#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_ACHILLES_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
NOC2L	26155	broad.mit.edu	37	1	880905	880905	+	Silent	SNP	C	C	A	rs149040522		TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr1:880905C>A	ENST00000327044.6	-	17	2095	c.2046G>T	c.(2044-2046)tcG>tcT	p.S682S		NM_015658.3	NP_056473	Q9Y3T9	NOC2L_HUMAN	nucleolar complex associated 2 homolog (S. cerevisiae)	682	Asp/Glu-rich (acidic).				apoptotic process (GO:0006915)|cellular response to UV (GO:0034644)|chromatin assembly (GO:0031497)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of histone acetylation (GO:0035067)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleolus to nucleoplasm transport (GO:0032066)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|nucleosome binding (GO:0031491)|poly(A) RNA binding (GO:0044822)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)	p.S682S(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	16	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		CACCTCTCTCCGAGAATCCCT	0.592																																							uc001abz.3		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(2044-2046)TCG>TCT		nucleolar complex associated 2 homolog							86.0	81.0	83.0					1																	880905		2203	4300	6503	SO:0001819	synonymous_variant	26155					nucleolus	protein binding	g.chr1:880905C>A	AL050019	CCDS3.1	1p36.33	2014-06-12			ENSG00000188976	ENSG00000188976			24517	protein-coding gene	gene with protein product	"""novel INHAT repressor"", ""protein phosphatase 1, regulatory subunit 12"""	610770					Standard	NM_015658		Approved	DKFZP564C186, NET7, NET15, NIR, PPP1R112	uc001abz.4	Q9Y3T9	OTTHUMG00000040720	ENST00000327044.6:c.2046G>T	1.37:g.880905C>A						NOC2L_uc001aby.3_Silent_p.S479S|NOC2L_uc009vjq.2_Silent_p.S682S	p.S682S	NM_015658	NP_056473	Q9Y3T9	NOC2L_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)	17	2105	-	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	682			Asp/Glu-rich (acidic).		Q5SVA3|Q9BTN6	Silent	SNP	ENST00000327044.6	37	c.2046G>T	CCDS3.1																																																																																				0.592	NOC2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097869.1	NM_015658		30	36	1	0	2.65835e-16	0.007291	4.39616e-16	30	36				
NOC2L	26155	broad.mit.edu	37	1	889421	889421	+	Missense_Mutation	SNP	C	C	A	rs3828050	byFrequency	TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr1:889421C>A	ENST00000327044.6	-	7	789	c.740G>T	c.(739-741)cGt>cTt	p.R247L	NOC2L_ENST00000487214.1_5'Flank	NM_015658.3	NP_056473	Q9Y3T9	NOC2L_HUMAN	nucleolar complex associated 2 homolog (S. cerevisiae)	247					apoptotic process (GO:0006915)|cellular response to UV (GO:0034644)|chromatin assembly (GO:0031497)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of histone acetylation (GO:0035067)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleolus to nucleoplasm transport (GO:0032066)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|nucleosome binding (GO:0031491)|poly(A) RNA binding (GO:0044822)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)	p.R247L(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	16	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		GATGTCCACACGAAGCTTCCC	0.647																																							uc001abz.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(739-741)CGT>CTT		nucleolar complex associated 2 homolog							87.0	84.0	85.0					1																	889421		2203	4300	6503	SO:0001583	missense	26155					nucleolus	protein binding	g.chr1:889421C>A	AL050019	CCDS3.1	1p36.33	2014-06-12			ENSG00000188976	ENSG00000188976			24517	protein-coding gene	gene with protein product	"""novel INHAT repressor"", ""protein phosphatase 1, regulatory subunit 12"""	610770					Standard	NM_015658		Approved	DKFZP564C186, NET7, NET15, NIR, PPP1R112	uc001abz.4	Q9Y3T9	OTTHUMG00000040720	ENST00000327044.6:c.740G>T	1.37:g.889421C>A	ENSP00000317992:p.Arg247Leu					NOC2L_uc001aby.3_Missense_Mutation_p.R44L|NOC2L_uc009vjq.2_Missense_Mutation_p.R247L	p.R247L	NM_015658	NP_056473	Q9Y3T9	NOC2L_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)	7	799	-	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	247					Q5SVA3|Q9BTN6	Missense_Mutation	SNP	ENST00000327044.6	37	c.740G>T	CCDS3.1	.	.	.	.	.	.	.	.	.	.	C	13.70	2.314645	0.40996	.	.	ENSG00000188976	ENST00000327044	T	0.64618	-0.11	4.11	4.11	0.48088	Armadillo-type fold (1);	0.152310	0.44688	D	0.000440	T	0.64929	0.2643	M	0.77103	2.36	0.53688	D	0.999973	P;P;P	0.41978	0.767;0.767;0.468	B;B;B	0.39706	0.307;0.307;0.176	T	0.74450	-0.3661	10	0.87932	D	0	-17.7817	15.5423	0.76062	0.0:1.0:0.0:0.0	.	247;247;14	B3KNC3;Q9Y3T9;Q9H9J5	.;NOC2L_HUMAN;.	L	247	ENSP00000317992:R247L	ENSP00000317992:R247L	R	-	2	0	NOC2L	879284	0.999000	0.42202	0.993000	0.49108	0.561000	0.35649	4.286000	0.58995	2.135000	0.66039	0.306000	0.20318	CGT		0.647	NOC2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097869.1	NM_015658		25	51	1	0	7.33532e-06	0.003954	8.68679e-06	25	51				
CFAP74	85452	broad.mit.edu	37	1	1854576	1854576	+	IGR	SNP	G	G	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr1:1854576G>A								TMEM52 (3864 upstream) : C1orf222 (64986 downstream)														p.R177W(1)									GGGCCTGGCCGGGAGCTGGCT	0.642																																							uc001aik.2		NA																	1	Substitution - Missense(1)		lung(1)		NA						c.(529-531)CGG>TGG		RecName: Full=Uncharacterized protein C1orf222;							16.0	17.0	17.0					1																	1854576		2192	4290	6482	SO:0001628	intergenic_variant	0							g.chr1:1854576G>A																													1.37:g.1854576G>A						uc001ail.2_Missense_Mutation_p.R177W	p.R177W							9	1379	-									Missense_Mutation	SNP		37	c.529C>T																																																																																				0	0.642									5	16	0	0	0	0.001168	0	5	16				
MEGF6	1953	broad.mit.edu	37	1	3440803	3440803	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr1:3440803G>C	ENST00000356575.4	-	5	715	c.489C>G	c.(487-489)gaC>gaG	p.D163E	MEGF6_ENST00000294599.4_Missense_Mutation_p.D58E	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	163	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.D163E(1)		cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		TTCGGCATTCGTCCACATCTG	0.652																																					Ovarian(73;978 3658)	Ovarian(73;978 3658)	uc001akl.2		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(487-489)GAC>GAG		EGF-like-domain, multiple 3 precursor							54.0	65.0	62.0					1																	3440803		2053	4203	6256	SO:0001583	missense	1953					extracellular region	calcium ion binding	g.chr1:3440803G>C	AB011539	CCDS41237.1	1p36.3	2008-02-05	2006-03-31	2006-03-31	ENSG00000162591	ENSG00000162591			3232	protein-coding gene	gene with protein product		604266	"""EGF-like-domain, multiple 3"""	EGFL3		9693030	Standard	NM_001409		Approved		uc001akl.3	O75095	OTTHUMG00000000611	ENST00000356575.4:c.489C>G	1.37:g.3440803G>C	ENSP00000348982:p.Asp163Glu					MEGF6_uc001akk.2_Missense_Mutation_p.D58E	p.D163E	NM_001409	NP_001400	O75095	MEGF6_HUMAN		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)	5	716	-	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)	163			EGF-like 2; calcium-binding (Potential).		Q4AC86|Q5VV39	Missense_Mutation	SNP	ENST00000356575.4	37	c.489C>G	CCDS41237.1	.	.	.	.	.	.	.	.	.	.	G	13.11	2.138710	0.37728	.	.	ENSG00000162591	ENST00000294599;ENST00000356575	D;D	0.91945	-2.55;-2.94	4.47	-5.38	0.02673	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.054278	0.64402	D	0.000001	D	0.96081	0.8723	H	0.95224	3.64	0.30616	N	0.759014	D;D	0.89917	0.994;1.0	D;D	0.80764	0.972;0.994	D	0.93406	0.6764	10	0.49607	T	0.09	-26.9228	13.1827	0.59663	0.6231:0.0:0.3769:0.0	.	163;58	O75095;O75095-2	MEGF6_HUMAN;.	E	58;163	ENSP00000294599:D58E;ENSP00000348982:D163E	ENSP00000294599:D58E	D	-	3	2	MEGF6	3430663	0.004000	0.15560	0.952000	0.39060	0.202000	0.24057	-1.337000	0.02657	-0.983000	0.03511	-0.320000	0.08662	GAC		0.652	MEGF6-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354866.1	NM_001409		9	26	0	0	0	0.001855	0	9	26				
CHD5	26038	broad.mit.edu	37	1	6184629	6184629	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr1:6184629G>C	ENST00000262450.3	-	30	4586	c.4487C>G	c.(4486-4488)tCc>tGc	p.S1496C	CHD5_ENST00000378021.1_Missense_Mutation_p.S353C	NM_015557.2	NP_056372.1	O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5	0					tail-anchored membrane protein insertion into ER membrane (GO:0071816)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)		p.S1496C(1)		breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		GTGCTGCCTGGAGAGGCCCTC	0.642																																							uc001amb.1		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(3)|breast(3)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1)	12						c.(4486-4488)TCC>TGC		chromodomain helicase DNA binding protein 5							57.0	49.0	52.0					1																	6184629		2203	4300	6503	SO:0001583	missense	26038				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding	g.chr1:6184629G>C	AF425231	CCDS57.1	1p36.3	2013-01-28			ENSG00000116254	ENSG00000116254		"""Zinc fingers, PHD-type"""	16816	protein-coding gene	gene with protein product		610771				11889561, 12592387	Standard	NM_015557		Approved		uc001amb.2	Q8TDI0	OTTHUMG00000000952	ENST00000262450.3:c.4487C>G	1.37:g.6184629G>C	ENSP00000262450:p.Ser1496Cys					CHD5_uc001alz.1_Missense_Mutation_p.S353C|CHD5_uc001ama.1_RNA|CHD5_uc001amc.1_RNA|CHD5_uc009vlx.1_Intron	p.S1496C	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)	30	4587	-	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)	1496					A8KAP8|A8MQ44|D3DSH9|O60740	Missense_Mutation	SNP	ENST00000262450.3	37	c.4487C>G	CCDS57.1	.	.	.	.	.	.	.	.	.	.	G	33	5.258669	0.95368	.	.	ENSG00000116254	ENST00000262450;ENST00000378006;ENST00000378021;ENST00000536802;ENST00000538279;ENST00000377999	D;T	0.91894	-2.93;2.04	5.1	5.1	0.69264	Domain of unknown function DUF1086 (1);	0.000000	0.64402	D	0.000002	D	0.92577	0.7642	M	0.64404	1.975	0.58432	D	0.999998	B;B	0.32101	0.065;0.356	B;B	0.39660	0.043;0.306	D	0.92433	0.5955	10	0.62326	D	0.03	-20.953	18.5117	0.90918	0.0:0.0:1.0:0.0	.	1496;353	Q8TDI0;Q5TG85	CHD5_HUMAN;.	C	1496;1012;353;904;904;353	ENSP00000262450:S1496C;ENSP00000367260:S353C	ENSP00000262450:S1496C	S	-	2	0	CHD5	6107216	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.458000	0.80787	2.368000	0.80403	0.561000	0.74099	TCC		0.642	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002823.2	NM_015557		3	20	0	0	0	0.004672	0	3	20				
KIF1B	23095	broad.mit.edu	37	1	10431226	10431226	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr1:10431226G>T	ENST00000377086.1	+	45	5054	c.4852G>T	c.(4852-4854)Gat>Tat	p.D1618Y	KIF1B_ENST00000263934.6_Missense_Mutation_p.D1572Y|KIF1B_ENST00000377081.1_Missense_Mutation_p.D1618Y			O60333	KIF1B_HUMAN	kinesin family member 1B	1618					anterograde axon cargo transport (GO:0008089)|apoptotic process (GO:0006915)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|mitochondrion transport along microtubule (GO:0047497)|neuromuscular synaptic transmission (GO:0007274)|neuron-neuron synaptic transmission (GO:0007270)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)	p.D1572Y(1)		breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		AATTGGACGGGATCCCTCTGA	0.483																																							uc001aqx.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)	3						c.(4852-4854)GAT>TAT		kinesin family member 1B isoform b							155.0	135.0	142.0					1																	10431226		2203	4300	6503	SO:0001583	missense	23095				anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding	g.chr1:10431226G>T	AF257176	CCDS111.1, CCDS112.1	1p36.22	2014-09-17			ENSG00000054523	ENSG00000054523		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	16636	protein-coding gene	gene with protein product		605995		CMT2A, CMT2		11389829, 10762626	Standard	NM_015074		Approved	KIAA0591, KLP, HMSNII	uc001aqw.4	O60333	OTTHUMG00000001817	ENST00000377086.1:c.4852G>T	1.37:g.10431226G>T	ENSP00000366290:p.Asp1618Tyr					KIF1B_uc001aqw.3_Missense_Mutation_p.D1572Y|KIF1B_uc001aqy.2_Missense_Mutation_p.D1592Y|KIF1B_uc001aqz.2_Missense_Mutation_p.D1618Y|KIF1B_uc001ara.2_Missense_Mutation_p.D1578Y|KIF1B_uc001arb.2_Missense_Mutation_p.D1604Y	p.D1618Y	NM_015074	NP_055889	O60333	KIF1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)	45	5054	+	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	1618					A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	Missense_Mutation	SNP	ENST00000377086.1	37	c.4852G>T		.	.	.	.	.	.	.	.	.	.	G	20.4	3.978320	0.74360	.	.	ENSG00000054523	ENST00000355249;ENST00000263934;ENST00000377086;ENST00000377081	T;T;T	0.11930	2.73;2.73;2.73	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.35189	0.0923	L	0.54323	1.7	0.80722	D	1	D;D;D;P;P;D	0.89917	0.993;0.989;1.0;0.939;0.651;0.997	P;P;D;P;B;P	0.72982	0.906;0.817;0.979;0.781;0.209;0.899	T	0.00780	-1.1569	10	0.51188	T	0.08	.	19.8228	0.96604	0.0:0.0:1.0:0.0	.	1604;1578;1618;1592;1618;1572	Q4R9M9;Q4R9M7;Q4VXC4;Q4R9M8;O60333;O60333-2	.;.;.;.;KIF1B_HUMAN;.	Y	1618;1572;1618;1618	ENSP00000263934:D1572Y;ENSP00000366290:D1618Y;ENSP00000366284:D1618Y	ENSP00000263934:D1572Y	D	+	1	0	KIF1B	10353813	1.000000	0.71417	0.996000	0.52242	0.969000	0.65631	7.598000	0.82745	2.759000	0.94783	0.650000	0.86243	GAT		0.483	KIF1B-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000005102.1			23	36	1	0	1.1804e-14	0.003954	1.89085e-14	23	36				
MTOR	2475	broad.mit.edu	37	1	11272478	11272478	+	Missense_Mutation	SNP	T	T	C	rs151082401		TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr1:11272478T>C	ENST00000361445.4	-	23	3528	c.3452A>G	c.(3451-3453)tAt>tGt	p.Y1151C		NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	1151					cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)	p.Y1151C(1)		breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	CCGGGAGGCATAGTCAGTGAA	0.507													T|||	1	0.000199681	0.0	0.0	5008	,	,		20235	0.0		0.001	False		,,,				2504	0.0						uc001asd.2		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(7)|lung(6)|ovary(6)|skin(3)|kidney(3)|large_intestine(2)|breast(2)	29						c.(3451-3453)TAT>TGT		FK506 binding protein 12-rapamycin associated		T	CYS/TYR	0,4406		0,0,2203	98.0	91.0	94.0		3452	5.2	1.0	1	dbSNP_134	94	2,8598	2.2+/-6.3	0,2,4298	no	missense	MTOR	NM_004958.3	194	0,2,6501	CC,CT,TT		0.0233,0.0,0.0154	probably-damaging	1151/2550	11272478	2,13004	2203	4300	6503	SO:0001583	missense	2475				cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity	g.chr1:11272478T>C	L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"""FK506 binding protein 12-rapamycin associated protein 2"", ""rapamycin target protein"", ""FKBP12-rapamycin complex-associated protein 1"", ""FKBP-rapamycin associated protein"", ""rapamycin associated protein FRAP2"", ""dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)"", ""rapamycin and FKBP12 target 1"", ""mammalian target of rapamycin"""	601231	"""FK506 binding protein 12-rapamycin associated protein 1"""	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.3452A>G	1.37:g.11272478T>C	ENSP00000354558:p.Tyr1151Cys						p.Y1151C	NM_004958	NP_004949	P42345	MTOR_HUMAN			23	3573	-			1151			HEAT 7.		Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Missense_Mutation	SNP	ENST00000361445.4	37	c.3452A>G	CCDS127.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	T	18.60	3.658964	0.67586	0.0	2.33E-4	ENSG00000198793	ENST00000361445;ENST00000539766	T	0.66460	-0.21	5.15	5.15	0.70609	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.70850	0.3271	M	0.79693	2.465	0.80722	D	1	D	0.58620	0.983	B	0.43783	0.431	T	0.77925	-0.2405	10	0.72032	D	0.01	-9.2268	15.0003	0.71466	0.0:0.0:0.0:1.0	.	1151	P42345	MTOR_HUMAN	C	1151	ENSP00000354558:Y1151C	ENSP00000354558:Y1151C	Y	-	2	0	MTOR	11195065	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	7.665000	0.83852	1.939000	0.56221	0.533000	0.62120	TAT		0.507	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005558.1	NM_004958		10	44	0	0	0	0.006214	0	10	44				
PTCHD2	57540	broad.mit.edu	37	1	11591678	11591678	+	Nonsense_Mutation	SNP	G	G	T	rs373830908		TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr1:11591678G>T	ENST00000294484.6	+	17	3424	c.3286G>T	c.(3286-3288)Gag>Tag	p.E1096*	PTCHD2_ENST00000389575.3_Nonsense_Mutation_p.E1096*|PTCHD2_ENST00000304391.6_5'Flank	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	1096					cholesterol homeostasis (GO:0042632)|regulation of lipid transport (GO:0032368)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	hedgehog receptor activity (GO:0008158)	p.E1313*(1)		NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		GGAGCTGCCCGAGCCCAACCT	0.662																																							uc001ash.3		NA																	1	Substitution - Nonsense(1)		lung(1)	skin(3)|ovary(2)|pancreas(1)|breast(1)	7						c.(3286-3288)GAG>TAG		patched domain containing 2							29.0	32.0	31.0					1																	11591678		2028	4162	6190	SO:0001587	stop_gained	57540				cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity	g.chr1:11591678G>T	AB037758	CCDS41247.1	1p36.22	2010-02-17			ENSG00000204624	ENSG00000204624			29251	protein-coding gene	gene with protein product		611251				15738394	Standard	NM_020780		Approved	KIAA1337, DISP3	uc001ash.4	Q9P2K9	OTTHUMG00000002074	ENST00000294484.6:c.3286G>T	1.37:g.11591678G>T	ENSP00000294484:p.Glu1096*						p.E1096*	NM_020780	NP_065831	Q9P2K9	PTHD2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)	17	3424	+	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	1096			Extracellular (Potential).		Q5VTU9|Q9UJD6	Nonsense_Mutation	SNP	ENST00000294484.6	37	c.3286G>T	CCDS41247.1	.	.	.	.	.	.	.	.	.	.	G	42	9.697019	0.99241	.	.	ENSG00000204624	ENST00000294484;ENST00000389575	.	.	.	5.1	4.12	0.48240	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20046	T	0.44	-31.9915	13.4245	0.61018	0.0:0.0:0.8426:0.1574	.	.	.	.	X	1096	.	ENSP00000294484:E1096X	E	+	1	0	PTCHD2	11514265	1.000000	0.71417	0.898000	0.35279	0.870000	0.49936	7.675000	0.84002	2.368000	0.80403	0.561000	0.74099	GAG		0.662	PTCHD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000005770.2	XM_052561		14	28	1	0	1.52009e-12	0.003163	2.30153e-12	14	28				
PTCHD2	57540	broad.mit.edu	37	1	11596643	11596643	+	Missense_Mutation	SNP	T	T	C			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr1:11596643T>C	ENST00000294484.6	+	21	4217	c.4079T>C	c.(4078-4080)cTg>cCg	p.L1360P	PTCHD2_ENST00000389575.3_Missense_Mutation_p.L1360P|PTCHD2_ENST00000304391.6_Silent_p.P246P	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	1360					cholesterol homeostasis (GO:0042632)|regulation of lipid transport (GO:0032368)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	hedgehog receptor activity (GO:0008158)	p.L1577P(1)		NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		CTCAAGGCCCTGGGTGCCGTG	0.672																																							uc001ash.3		NA																	1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)|pancreas(1)|breast(1)	7						c.(4078-4080)CTG>CCG		patched domain containing 2							28.0	31.0	30.0					1																	11596643		2110	4228	6338	SO:0001583	missense	57540				cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity	g.chr1:11596643T>C	AB037758	CCDS41247.1	1p36.22	2010-02-17			ENSG00000204624	ENSG00000204624			29251	protein-coding gene	gene with protein product		611251				15738394	Standard	NM_020780		Approved	KIAA1337, DISP3	uc001ash.4	Q9P2K9	OTTHUMG00000002074	ENST00000294484.6:c.4079T>C	1.37:g.11596643T>C	ENSP00000294484:p.Leu1360Pro						p.L1360P	NM_020780	NP_065831	Q9P2K9	PTHD2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)	21	4217	+	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	1360			Helical; (Potential).		Q5VTU9|Q9UJD6	Missense_Mutation	SNP	ENST00000294484.6	37	c.4079T>C	CCDS41247.1	.	.	.	.	.	.	.	.	.	.	T	14.85	2.657621	0.47467	.	.	ENSG00000204624	ENST00000294484;ENST00000389575	D;D	0.91180	-2.79;-2.8	5.02	5.02	0.67125	.	0.338522	0.23937	N	0.043084	D	0.87212	0.6121	N	0.19112	0.55	0.53688	D	0.999977	D	0.54397	0.966	P	0.49226	0.603	D	0.89151	0.3523	10	0.87932	D	0	-14.9301	13.9539	0.64135	0.0:0.0:0.0:1.0	.	1360	Q9P2K9	PTHD2_HUMAN	P	1360	ENSP00000294484:L1360P;ENSP00000374226:L1360P	ENSP00000294484:L1360P	L	+	2	0	PTCHD2	11519230	1.000000	0.71417	0.999000	0.59377	0.374000	0.29953	2.471000	0.45127	1.891000	0.54761	0.459000	0.35465	CTG		0.672	PTCHD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000005770.2	XM_052561		5	14	0	0	0	0.001984	0	5	14				
PTCHD2	57540	broad.mit.edu	37	1	11596647	11596647	+	Silent	SNP	T	T	G			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr1:11596647T>G	ENST00000294484.6	+	21	4221	c.4083T>G	c.(4081-4083)ggT>ggG	p.G1361G	PTCHD2_ENST00000389575.3_Silent_p.G1361G|PTCHD2_ENST00000304391.6_Missense_Mutation_p.C248G	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	1361					cholesterol homeostasis (GO:0042632)|regulation of lipid transport (GO:0032368)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	hedgehog receptor activity (GO:0008158)	p.G1578G(1)		NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		AGGCCCTGGGTGCCGTGCTGC	0.672																																							uc001ash.3		NA																	1	Substitution - coding silent(1)		lung(1)	skin(3)|ovary(2)|pancreas(1)|breast(1)	7						c.(4081-4083)GGT>GGG		patched domain containing 2							27.0	29.0	28.0					1																	11596647		2092	4214	6306	SO:0001819	synonymous_variant	57540				cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity	g.chr1:11596647T>G	AB037758	CCDS41247.1	1p36.22	2010-02-17			ENSG00000204624	ENSG00000204624			29251	protein-coding gene	gene with protein product		611251				15738394	Standard	NM_020780		Approved	KIAA1337, DISP3	uc001ash.4	Q9P2K9	OTTHUMG00000002074	ENST00000294484.6:c.4083T>G	1.37:g.11596647T>G							p.G1361G	NM_020780	NP_065831	Q9P2K9	PTHD2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)	21	4221	+	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	1361			Helical; (Potential).		Q5VTU9|Q9UJD6	Silent	SNP	ENST00000294484.6	37	c.4083T>G	CCDS41247.1	.	.	.	.	.	.	.	.	.	.	T	3.661	-0.069588	0.07228	.	.	ENSG00000204624	ENST00000304391	.	.	.	5.02	-10.0	0.00425	.	.	.	.	.	T	0.15912	0.0383	.	.	.	0.25408	N	0.988388	.	.	.	.	.	.	T	0.15435	-1.0437	4	.	.	.	-10.6573	3.7493	0.08561	0.1308:0.1034:0.314:0.4517	.	.	.	.	G	248	.	.	C	+	1	0	PTCHD2	11519234	0.000000	0.05858	0.039000	0.18376	0.188000	0.23474	-1.864000	0.01650	-1.642000	0.01521	-1.220000	0.01600	TGC		0.672	PTCHD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000005770.2	XM_052561		4	11	0	0	0	0.001168	0	4	11				
VPS13D	55187	broad.mit.edu	37	1	12328835	12328835	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr1:12328835G>C	ENST00000358136.3	+	16	2004	c.1874G>C	c.(1873-1875)cGg>cCg	p.R625P	VPS13D_ENST00000356315.4_Missense_Mutation_p.R625P	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)									p.R625P(1)		NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TTTGAGAGGCGGCTCAATGTC	0.463																																							uc001atv.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|pancreas(1)	5						c.(1873-1875)CGG>CCG		vacuolar protein sorting 13D isoform 1							132.0	138.0	136.0					1																	12328835		2203	4300	6503	SO:0001583	missense	55187				protein localization			g.chr1:12328835G>C	AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.1874G>C	1.37:g.12328835G>C	ENSP00000350854:p.Arg625Pro					VPS13D_uc001atw.2_Missense_Mutation_p.R625P	p.R625P	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)	16	2015	+	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	625						Missense_Mutation	SNP	ENST00000358136.3	37	c.1874G>C	CCDS30588.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.089421	0.76756	.	.	ENSG00000048707	ENST00000356315;ENST00000358136	T;T	0.51817	0.69;0.69	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	T	0.69459	0.3113	M	0.68593	2.085	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.67526	-0.5648	10	0.51188	T	0.08	.	20.2422	0.98381	0.0:0.0:1.0:0.0	.	625;625	Q5THJ4-2;Q5THJ4	.;VP13D_HUMAN	P	625	ENSP00000348666:R625P;ENSP00000350854:R625P	ENSP00000348666:R625P	R	+	2	0	VPS13D	12251422	1.000000	0.71417	0.995000	0.50966	0.279000	0.26890	9.444000	0.97578	2.788000	0.95919	0.650000	0.86243	CGG		0.463	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378		71	151	0	0	0	0.00361	0	71	151				
PRAMEF1	65121	broad.mit.edu	37	1	12854318	12854318	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr1:12854318G>T	ENST00000332296.7	+	3	645	c.542G>T	c.(541-543)tGc>tTc	p.C181F	PRAMEF1_ENST00000400814.3_5'Flank	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	181					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)			p.C181F(2)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GTACACCTGTGCTGTAGTAAG	0.403																																							uc001auj.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(541-543)TGC>TTC		PRAME family member 1							154.0	165.0	161.0					1																	12854318		2201	4297	6498	SO:0001583	missense	65121							g.chr1:12854318G>T	AL049686	CCDS148.1	1p36.21	2013-01-17			ENSG00000116721	ENSG00000116721		"""-"""	28840	protein-coding gene	gene with protein product							Standard	NM_023013		Approved		uc001auj.2	O95521	OTTHUMG00000001928	ENST00000332296.7:c.542G>T	1.37:g.12854318G>T	ENSP00000332134:p.Cys181Phe						p.C181F	NM_023013	NP_075389	O95521	PRAM1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	3	645	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	181					Q9UQP2	Missense_Mutation	SNP	ENST00000332296.7	37	c.542G>T	CCDS148.1	.	.	.	.	.	.	.	.	.	.	.	9.396	1.076731	0.20227	.	.	ENSG00000116721	ENST00000332296	T	0.11604	2.76	1.74	-1.27	0.09347	.	0.800432	0.11754	N	0.532782	T	0.26774	0.0655	M	0.86651	2.83	0.09310	N	1	D	0.69078	0.997	D	0.65874	0.939	T	0.13019	-1.0525	10	0.59425	D	0.04	.	1.6098	0.02691	0.357:0.0:0.3397:0.3033	.	181	O95521	PRAM1_HUMAN	F	181	ENSP00000332134:C181F	ENSP00000332134:C181F	C	+	2	0	PRAMEF1	12776905	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.845000	0.04340	-0.346000	0.08312	0.543000	0.68304	TGC		0.403	PRAMEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005458.1	NM_023013		9	651	1	0	5.04308e-16	0.00623	8.29956e-16	9	651				
HNRNPCL1	343069	broad.mit.edu	37	1	12907903	12907903	+	Silent	SNP	T	T	C			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr1:12907903T>C	ENST00000317869.6	-	2	465	c.240A>G	c.(238-240)gtA>gtG	p.V80V		NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1	O60812	HNRC1_HUMAN	heterogeneous nuclear ribonucleoprotein C-like 1	80	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.					nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.V80V(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						GGTTAATATCTACAACCTGGC	0.488																																							uc009vno.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(238-240)GTA>GTG		heterogeneous nuclear ribonucleoprotein C-like							133.0	132.0	132.0					1																	12907903		2203	4300	6503	SO:0001819	synonymous_variant	649330						nucleic acid binding|nucleotide binding	g.chr1:12907903T>C	BC002696	CCDS30591.1	1p36.21	2013-02-12		2008-04-18	ENSG00000179172	ENSG00000179172		"""RNA binding motif (RRM) containing"""	29295	protein-coding gene	gene with protein product				HNRPCL1			Standard	NM_001013631		Approved			O60812	OTTHUMG00000001931	ENST00000317869.6:c.240A>G	1.37:g.12907903T>C						HNRNPCL1_uc010obf.1_Silent_p.V80V	p.V80V	NM_001146181	NP_001139653	B7ZW38	B7ZW38_HUMAN			1	335	-			80					B2RP44	Silent	SNP	ENST00000317869.6	37	c.240A>G	CCDS30591.1																																																																																				0.488	HNRNPCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005462.1	NM_001013631		12	185	0	0	0	0.000978	0	12	185				
PDPN	10630	broad.mit.edu	37	1	13936946	13936946	+	Missense_Mutation	SNP	C	C	G			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr1:13936946C>G	ENST00000509009.1	+	3	295	c.251C>G	c.(250-252)aCa>aGa	p.T84R	PDPN_ENST00000376061.4_Missense_Mutation_p.T47R|PDPN_ENST00000376057.4_Missense_Mutation_p.T165R|PDPN_ENST00000513143.1_Missense_Mutation_p.T47R|PDPN_ENST00000475043.1_Missense_Mutation_p.T47R|PDPN_ENST00000487038.1_Missense_Mutation_p.T47R|PDPN_ENST00000294489.6_Missense_Mutation_p.T165R					podoplanin									p.T165R(1)		endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	16	Ovarian(185;0.249)	all_lung(284;2.29e-05)|Lung NSC(185;4.37e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00969)|Colorectal(212;4.48e-06)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000347)|Kidney(185;0.00087)|KIRC - Kidney renal clear cell carcinoma(229;0.0027)|STAD - Stomach adenocarcinoma(313;0.00802)|READ - Rectum adenocarcinoma(331;0.0678)		TCAGAAAGCACAGTCCACGCG	0.502																																							uc001avd.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(493-495)ACA>AGA		lung type-I cell membrane-associated							130.0	118.0	122.0					1																	13936946		2203	4300	6503	SO:0001583	missense	10630				cell morphogenesis|lymphangiogenesis|regulation of cell shape	filopodium membrane|integral to plasma membrane|lamellipodium membrane|microvillus membrane|ruffle membrane		g.chr1:13936946C>G	AB127958, AY194238	CCDS30602.1, CCDS41266.1, CCDS44060.1, CCDS53270.1	1p36.21	2008-02-05			ENSG00000162493	ENSG00000162493			29602	protein-coding gene	gene with protein product	"""lung type I cell membrane associated glycoprotein"""	608863				10393083, 9651190	Standard	NM_006474		Approved	T1A-2, Gp38, aggrus, GP40, PA2.26	uc001avd.3	Q86YL7	OTTHUMG00000007912	ENST00000509009.1:c.251C>G	1.37:g.13936946C>G	ENSP00000422977:p.Thr84Arg					PDPN_uc001avc.2_Missense_Mutation_p.T165R|PDPN_uc009vob.2_Missense_Mutation_p.T47R|PDPN_uc009voc.2_Missense_Mutation_p.T47R|PDPN_uc001ave.2_Missense_Mutation_p.T47R|PDPN_uc001avf.2_Missense_Mutation_p.T47R	p.T165R	NM_006474	NP_006465	Q86YL7	PDPN_HUMAN	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00969)|Colorectal(212;4.48e-06)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000347)|Kidney(185;0.00087)|KIRC - Kidney renal clear cell carcinoma(229;0.0027)|STAD - Stomach adenocarcinoma(313;0.00802)|READ - Rectum adenocarcinoma(331;0.0678)	3	543	+	Ovarian(185;0.249)	all_lung(284;2.29e-05)|Lung NSC(185;4.37e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	89			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000509009.1	37	c.494C>G		.	.	.	.	.	.	.	.	.	.	C	17.86	3.493215	0.64186	.	.	ENSG00000162493	ENST00000294489;ENST00000376057;ENST00000510906;ENST00000509009;ENST00000376061;ENST00000513143;ENST00000487038;ENST00000475043	T;T;T;T;T;T;T;T	0.35421	1.31;1.31;1.31;1.31;1.31;1.31;1.31;1.31	4.28	4.28	0.50868	.	0.643829	0.14573	N	0.311351	T	0.55847	0.1946	M	0.61703	1.905	0.21105	N	0.999786	D;D;D;D	0.76494	0.999;0.999;0.998;0.998	D;D;D;D	0.75020	0.985;0.985;0.974;0.974	T	0.43702	-0.9375	10	0.87932	D	0	1.0334	12.5999	0.56491	0.0:1.0:0.0:0.0	.	89;47;165;165	Q86YL7;E9PB68;Q86YL7-3;Q86YL7-4	PDPN_HUMAN;.;.;.	R	165;165;156;84;47;47;47;47	ENSP00000294489:T165R;ENSP00000365225:T165R;ENSP00000426302:T156R;ENSP00000422977:T84R;ENSP00000365229:T47R;ENSP00000425304:T47R;ENSP00000427537:T47R;ENSP00000426063:T47R	ENSP00000294489:T165R	T	+	2	0	PDPN	13809533	0.019000	0.18553	0.442000	0.26870	0.174000	0.22865	3.248000	0.51430	2.684000	0.91462	0.650000	0.86243	ACA		0.502	PDPN-009	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367736.1	NM_006474		9	49	0	0	0	0.004482	0	9	49				
TMEM51	55092	broad.mit.edu	37	1	15541749	15541749	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr1:15541749G>C	ENST00000428417.1	+	2	612	c.166G>C	c.(166-168)Ggc>Cgc	p.G56R	TMEM51_ENST00000376008.2_Missense_Mutation_p.G56R|TMEM51_ENST00000376014.3_Missense_Mutation_p.G56R|TMEM51_ENST00000434578.2_Missense_Mutation_p.G56R|TMEM51_ENST00000400796.3_Missense_Mutation_p.G56R	NM_001136217.1	NP_001129689.1	Q9NW97	TMM51_HUMAN	transmembrane protein 51	56						integral component of membrane (GO:0016021)		p.G56R(1)		breast(1)|central_nervous_system(1)|cervix(3)|large_intestine(2)|lung(5)|prostate(2)	14		Renal(390;0.00145)|Breast(348;0.00186)|Colorectal(325;0.00215)|all_lung(284;0.00459)|Lung NSC(340;0.0104)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;2.07e-06)|COAD - Colon adenocarcinoma(227;7.14e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000175)|KIRC - Kidney renal clear cell carcinoma(229;0.00141)|STAD - Stomach adenocarcinoma(313;0.00644)|READ - Rectum adenocarcinoma(331;0.0751)		GGTGGGTGGCGGCATCCTCAA	0.607																																							uc001avw.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(166-168)GGC>CGC		transmembrane protein 51							150.0	147.0	148.0					1																	15541749		2203	4300	6503	SO:0001583	missense	55092					integral to membrane		g.chr1:15541749G>C	AK098467	CCDS154.1	1p36.21	2008-02-05	2005-05-22	2005-05-22	ENSG00000171729	ENSG00000171729			25488	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 72"""	C1orf72		12477932	Standard	NM_018022		Approved	FLJ10199	uc001avx.3	Q9NW97	OTTHUMG00000002046	ENST00000428417.1:c.166G>C	1.37:g.15541749G>C	ENSP00000394899:p.Gly56Arg					TMEM51_uc010obk.1_Missense_Mutation_p.G56R|TMEM51_uc001avz.2_Missense_Mutation_p.G56R|TMEM51_uc001avy.2_Missense_Mutation_p.G56R|TMEM51_uc001avx.2_Missense_Mutation_p.G56R	p.G56R	NM_001136216	NP_001129688	Q9NW97	TMM51_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;2.07e-06)|COAD - Colon adenocarcinoma(227;7.14e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000175)|KIRC - Kidney renal clear cell carcinoma(229;0.00141)|STAD - Stomach adenocarcinoma(313;0.00644)|READ - Rectum adenocarcinoma(331;0.0751)	3	685	+		Renal(390;0.00145)|Breast(348;0.00186)|Colorectal(325;0.00215)|all_lung(284;0.00459)|Lung NSC(340;0.0104)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0798)	56					A8K819	Missense_Mutation	SNP	ENST00000428417.1	37	c.166G>C	CCDS154.1	.	.	.	.	.	.	.	.	.	.	G	17.63	3.438482	0.62955	.	.	ENSG00000171729	ENST00000428417;ENST00000376014;ENST00000451326;ENST00000434578;ENST00000400796;ENST00000376008;ENST00000303840	T;T;T;T;T;T	0.32272	1.46;1.46;1.46;1.46;1.46;1.46	5.43	3.55	0.40652	.	0.252795	0.38778	N	0.001574	T	0.36276	0.0961	L	0.47716	1.5	0.29676	N	0.842072	D;P	0.54772	0.968;0.784	P;P	0.52598	0.703;0.494	T	0.30060	-0.9991	10	0.87932	D	0	-10.2637	10.0269	0.42076	0.1593:0.0:0.8407:0.0	.	56;56	Q9BSA0;Q9NW97	.;TMM51_HUMAN	R	56	ENSP00000394899:G56R;ENSP00000365182:G56R;ENSP00000412298:G56R;ENSP00000409665:G56R;ENSP00000383600:G56R;ENSP00000365176:G56R	ENSP00000303666:G56R	G	+	1	0	TMEM51	15414336	0.693000	0.27728	0.884000	0.34674	0.708000	0.40852	1.468000	0.35332	1.312000	0.45043	-0.137000	0.14449	GGC		0.607	TMEM51-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005699.3	NM_018022		48	101	0	0	0	0.00361	0	48	101				
EPHA2	1969	broad.mit.edu	37	1	16464386	16464386	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr1:16464386C>A	ENST00000358432.5	-	5	1428	c.1274G>T	c.(1273-1275)cGc>cTc	p.R425L		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	425	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				activation of Rac GTPase activity (GO:0032863)|angiogenesis (GO:0001525)|axial mesoderm formation (GO:0048320)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|ephrin receptor signaling pathway (GO:0048013)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|keratinocyte differentiation (GO:0030216)|lens fiber cell morphogenesis (GO:0070309)|mammary gland epithelial cell proliferation (GO:0033598)|multicellular organismal development (GO:0007275)|negative regulation of protein kinase B signaling (GO:0051898)|neural tube development (GO:0021915)|neuron differentiation (GO:0030182)|notochord cell development (GO:0060035)|notochord formation (GO:0014028)|osteoblast differentiation (GO:0001649)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|post-anal tail morphogenesis (GO:0036342)|protein kinase B signaling (GO:0043491)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of lamellipodium assembly (GO:0010591)|response to growth factor (GO:0070848)|skeletal system development (GO:0001501)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell projection (GO:0042995)|cell surface (GO:0009986)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.R425L(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)|Regorafenib(DB08896)	ACGGAAGCTGCGGCTGGTTAC	0.632																																							uc001aya.1		NA																	1	Substitution - Missense(1)		lung(1)	lung(3)|central_nervous_system(3)|stomach(2)|ovary(2)	10						c.(1273-1275)CGC>CTC		ephrin receptor EphA2 precursor	Dasatinib(DB01254)						49.0	51.0	50.0					1																	16464386		2201	4300	6501	SO:0001583	missense	1969				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding	g.chr1:16464386C>A	BC037166	CCDS169.1	1p36	2013-02-11	2004-10-28		ENSG00000142627	ENSG00000142627	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3386	protein-coding gene	gene with protein product		176946	"""EphA2"""	ECK		9119409	Standard	NM_004431		Approved		uc001aya.2	P29317	OTTHUMG00000009527	ENST00000358432.5:c.1274G>T	1.37:g.16464386C>A	ENSP00000351209:p.Arg425Leu					EPHA2_uc010oca.1_Missense_Mutation_p.R425L	p.R425L	NM_004431	NP_004422	P29317	EPHA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	5	1411	-		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)	425			Extracellular (Potential).|Fibronectin type-III 1.		B5A968|Q8N3Z2	Missense_Mutation	SNP	ENST00000358432.5	37	c.1274G>T	CCDS169.1	.	.	.	.	.	.	.	.	.	.	C	13.66	2.303114	0.40795	.	.	ENSG00000142627	ENST00000358432	T	0.52754	0.65	4.85	4.85	0.62838	Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.121249	0.37261	N	0.002168	T	0.45856	0.1363	M	0.72479	2.2	0.51482	D	0.999927	B;P	0.35894	0.002;0.526	B;B	0.26310	0.001;0.068	T	0.55088	-0.8195	10	0.59425	D	0.04	.	15.8242	0.78686	0.0:1.0:0.0:0.0	.	425;425	B5A968;P29317	.;EPHA2_HUMAN	L	425	ENSP00000351209:R425L	ENSP00000351209:R425L	R	-	2	0	EPHA2	16336973	0.980000	0.34600	1.000000	0.80357	0.816000	0.46133	0.155000	0.16362	2.419000	0.82065	0.462000	0.41574	CGC		0.632	EPHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026322.1	NM_004431		15	38	1	0	1.15919e-05	0.008871	1.36171e-05	15	38				
PLA2G2A	5320	broad.mit.edu	37	1	20302256	20302256	+	Missense_Mutation	SNP	A	A	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr1:20302256A>T	ENST00000375111.3	-	6	644	c.373T>A	c.(373-375)Tac>Aac	p.Y125N	PLA2G2A_ENST00000496748.1_5'UTR|PLA2G2A_ENST00000400520.3_Missense_Mutation_p.Y125N	NM_000300.3|NM_001161727.1	NP_000291.1|NP_001155199.1	P14555	PA2GA_HUMAN	phospholipase A2, group IIA (platelets, synovial fluid)	125					defense response to Gram-positive bacterium (GO:0050830)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of epithelial cell proliferation (GO:0050680)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidic acid metabolic process (GO:0046473)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|positive regulation of inflammatory response (GO:0050729)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|small molecule metabolic process (GO:0044281)|somatic stem cell maintenance (GO:0035019)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|secretory granule (GO:0030141)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)|phospholipase A2 activity (GO:0004623)|phospholipid binding (GO:0005543)	p.Y125N(1)		central_nervous_system(1)|lung(6)|prostate(1)|stomach(1)	9		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000138)|Kidney(64;0.000171)|GBM - Glioblastoma multiforme(114;0.00032)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Diclofenac(DB00586)|Ginkgo biloba(DB01381)|Indomethacin(DB00328)|Suramin(DB04786)	TTTTTATTGTAGGTCGTCTTG	0.458																																							uc001bcu.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(373-375)TAC>AAC		phospholipase A2, group IIA precursor							169.0	160.0	163.0					1																	20302256		2203	4300	6503	SO:0001583	missense	5320				defense response to Gram-positive bacterium|lipid catabolic process|low-density lipoprotein particle remodeling|phosphatidic acid metabolic process|positive regulation of inflammatory response|positive regulation of macrophage derived foam cell differentiation	endoplasmic reticulum|extracellular space|membrane	calcium ion binding|calcium-dependent phospholipase A2 activity|phospholipid binding	g.chr1:20302256A>T	BC005919	CCDS201.1	1p35	2008-09-19			ENSG00000188257	ENSG00000188257	3.1.1.4		9031	protein-coding gene	gene with protein product		172411		PLA2B, PLA2L		8838795	Standard	NM_000300		Approved		uc010odb.2	P14555	OTTHUMG00000002699	ENST00000375111.3:c.373T>A	1.37:g.20302256A>T	ENSP00000364252:p.Tyr125Asn					PLA2G2A_uc001bcv.2_Missense_Mutation_p.Y125N|PLA2G2A_uc010oda.1_Missense_Mutation_p.Y125N|PLA2G2A_uc010odb.1_Missense_Mutation_p.Y125N	p.Y125N	NM_001161729	NP_001155201	P14555	PA2GA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000138)|Kidney(64;0.000171)|GBM - Glioblastoma multiforme(114;0.00032)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	5	591	-		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)	125					A8K5I7|Q6DN24|Q6IBD9|Q9UCD2	Missense_Mutation	SNP	ENST00000375111.3	37	c.373T>A	CCDS201.1	.	.	.	.	.	.	.	.	.	.	A	16.36	3.101696	0.56183	.	.	ENSG00000188257	ENST00000400520;ENST00000375111	T;T	0.44083	0.93;0.93	4.9	4.9	0.64082	Phospholipase A2 (3);	0.000000	0.44097	D	0.000486	T	0.75421	0.3847	H	0.98005	4.125	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.73588	-0.3935	10	0.87932	D	0	.	11.0786	0.48047	1.0:0.0:0.0:0.0	.	125	P14555	PA2GA_HUMAN	N	125	ENSP00000383364:Y125N;ENSP00000364252:Y125N	ENSP00000364252:Y125N	Y	-	1	0	PLA2G2A	20174843	0.771000	0.28555	0.040000	0.18447	0.004000	0.04260	2.702000	0.47102	2.180000	0.69256	0.460000	0.39030	TAC		0.458	PLA2G2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007675.1	NM_000300		11	49	0	0	0	0.001368	0	11	49				
ALPL	249	broad.mit.edu	37	1	21902372	21902372	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr1:21902372G>A	ENST00000374840.3	+	10	1394	c.1144G>A	c.(1144-1146)Gtc>Atc	p.V382I	ALPL_ENST00000374832.1_Missense_Mutation_p.V382I|ALPL_ENST00000539907.1_Missense_Mutation_p.V305I|ALPL_ENST00000374830.1_Missense_Mutation_p.V28I|ALPL_ENST00000374829.1_Missense_Mutation_p.V28I|ALPL_ENST00000540617.1_Missense_Mutation_p.V327I|ALPL_ENST00000425315.2_Missense_Mutation_p.V382I	NM_000478.4	NP_000469.3	P05186	PPBT_HUMAN	alkaline phosphatase, liver/bone/kidney	382			V -> I (in HOPS). {ECO:0000269|PubMed:9452105}.		cellular response to organic cyclic compound (GO:0071407)|cementum mineralization (GO:0071529)|developmental process involved in reproduction (GO:0003006)|endochondral ossification (GO:0001958)|osteoblast differentiation (GO:0001649)|response to antibiotic (GO:0046677)|response to glucocorticoid (GO:0051384)|response to lipopolysaccharide (GO:0032496)|response to vitamin D (GO:0033280)|skeletal system development (GO:0001501)	anchored component of membrane (GO:0031225)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)	p.V382I(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	26		all_lung(284;2.19e-05)|Lung NSC(340;2.22e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;8.7e-28)|COAD - Colon adenocarcinoma(152;1.57e-05)|GBM - Glioblastoma multiforme(114;2.66e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000177)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00856)|READ - Rectum adenocarcinoma(331;0.0623)|Lung(427;0.146)	Amifostine(DB01143)|Fospropofol(DB06716)	CCATTCCCACGTCTTCACATT	0.607																																							uc001bet.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(2)|skin(1)	5	GRCh37	CM980076	ALPL	M		c.(1144-1146)GTC>ATC		tissue-nonspecific alkaline phosphatase	Amifostine(DB01143)						156.0	149.0	151.0					1																	21902372		2203	4300	6503	SO:0001583	missense	249				response to vitamin D|skeletal system development	anchored to membrane|cytoplasm|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding	g.chr1:21902372G>A	BC021289	CCDS217.1, CCDS53274.1, CCDS53275.1	1p36.12	2008-02-05			ENSG00000162551	ENSG00000162551	3.1.3.1		438	protein-coding gene	gene with protein product		171760		HOPS		3532105, 3446011	Standard	NM_001127501		Approved	TNSALP	uc001bet.3	P05186	OTTHUMG00000002949	ENST00000374840.3:c.1144G>A	1.37:g.21902372G>A	ENSP00000363973:p.Val382Ile					ALPL_uc010odn.1_Missense_Mutation_p.V330I|ALPL_uc010odo.1_Missense_Mutation_p.V327I|ALPL_uc010odp.1_Missense_Mutation_p.V305I|ALPL_uc001beu.3_Missense_Mutation_p.V382I	p.V382I	NM_000478	NP_000469	P05186	PPBT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;8.7e-28)|COAD - Colon adenocarcinoma(152;1.57e-05)|GBM - Glioblastoma multiforme(114;2.66e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000177)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00856)|READ - Rectum adenocarcinoma(331;0.0623)|Lung(427;0.146)	10	1401	+		all_lung(284;2.19e-05)|Lung NSC(340;2.22e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	382		V -> I (in HOPS).			A1A4E7|B2RMP8|B7Z387|B7Z4Y6|O75090|Q2TAI7|Q59EJ7|Q5BKZ5|Q5VTG5|Q6NZI8|Q8WU32|Q9UBK0	Missense_Mutation	SNP	ENST00000374840.3	37	c.1144G>A	CCDS217.1	.	.	.	.	.	.	.	.	.	.	G	16.61	3.172292	0.57584	.	.	ENSG00000162551	ENST00000539907;ENST00000540617;ENST00000374840;ENST00000374832;ENST00000425315;ENST00000374830;ENST00000374829	D;D;D;D;D;D;D	0.97186	-4.28;-4.28;-4.28;-4.28;-4.28;-4.28;-4.28	4.91	4.91	0.64330	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.067519	0.64402	D	0.000019	D	0.97266	0.9106	M	0.94101	3.495	0.42572	D	0.993183	P;P;D	0.53619	0.608;0.941;0.961	B;B;B	0.40285	0.166;0.325;0.277	D	0.98368	1.0552	10	0.66056	D	0.02	-8.426	15.6037	0.76646	0.0:0.0:1.0:0.0	.	305;330;382	B7Z387;B7Z1D1;P05186	.;.;PPBT_HUMAN	I	305;327;382;382;382;28;28	ENSP00000437674:V305I;ENSP00000442672:V327I;ENSP00000363973:V382I;ENSP00000363965:V382I;ENSP00000394765:V382I;ENSP00000363963:V28I;ENSP00000363962:V28I	ENSP00000363962:V28I	V	+	1	0	ALPL	21774959	1.000000	0.71417	0.998000	0.56505	0.748000	0.42578	5.581000	0.67471	2.280000	0.76307	0.561000	0.74099	GTC		0.607	ALPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000008202.1	NM_000478		8	139	0	0	0	0.008291	0	8	139				
CELA3A	10136	broad.mit.edu	37	1	22333450	22333450	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr1:22333450G>A	ENST00000290122.3	+	5	461	c.442G>A	c.(442-444)Ggt>Agt	p.G148S		NM_005747.4	NP_005738.4	P09093	CEL3A_HUMAN	chymotrypsin-like elastase family, member 3A	148	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cholesterol metabolic process (GO:0008203)|digestion (GO:0007586)|proteolysis (GO:0006508)		serine-type endopeptidase activity (GO:0004252)	p.G148S(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CCCTCCCGCTGGTGACATCCT	0.602																																							uc001bfl.2		NA																	1	Substitution - Missense(1)		lung(1)	haematopoietic_and_lymphoid_tissue(1)	1						c.(442-444)GGT>AGT		elastase 3A, pancreatic preproprotein							129.0	113.0	119.0					1																	22333450		2200	4300	6500	SO:0001583	missense	10136				cholesterol metabolic process|digestion|proteolysis		serine-type endopeptidase activity	g.chr1:22333450G>A	D00306	CCDS220.1	1p36.12	2009-05-05	2009-05-05	2009-05-05	ENSG00000142789	ENSG00000142789			15944	protein-coding gene	gene with protein product	"""protease E"""		"""elastase 3A, pancreatic (protease E)"", ""elastase 3A, pancreatic"""	ELA3A		2826474, 2460440	Standard	NM_005747		Approved	ELA3		P09093	OTTHUMG00000002755	ENST00000290122.3:c.442G>A	1.37:g.22333450G>A	ENSP00000290122:p.Gly148Ser						p.G148S	NM_005747	NP_005738	P09093	CEL3A_HUMAN			5	461	+			148			Peptidase S1.		B1AQ53|Q9BRW4	Missense_Mutation	SNP	ENST00000290122.3	37	c.442G>A	CCDS220.1	.	.	.	.	.	.	.	.	.	.	G	16.74	3.205840	0.58234	.	.	ENSG00000142789	ENST00000290122;ENST00000374661	D	0.87887	-2.31	3.83	2.89	0.33648	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	D	0.84647	0.5518	N	0.11724	0.165	0.80722	D	1	D	0.56521	0.976	D	0.66497	0.944	D	0.85036	0.0920	9	0.72032	D	0.01	-21.3957	9.4608	0.38783	0.1103:0.0:0.8897:0.0	.	148	P09093	CEL3A_HUMAN	S	148;164	ENSP00000290122:G148S	ENSP00000290122:G148S	G	+	1	0	CELA3A	22206037	0.999000	0.42202	0.932000	0.37286	0.264000	0.26372	4.489000	0.60309	1.958000	0.56883	0.400000	0.26472	GGT		0.602	CELA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007791.1	NM_005747		37	69	0	0	0	0.005524	0	37	69				
SLC30A2	7780	broad.mit.edu	37	1	26371649	26371649	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr1:26371649C>A	ENST00000374278.3	-	2	326	c.110G>T	c.(109-111)gGc>gTc	p.G37V	SLC30A2_ENST00000498060.1_5'UTR|SLC30A2_ENST00000374276.3_Missense_Mutation_p.G37V	NM_032513.3	NP_115902.1	Q9BRI3	ZNT2_HUMAN	solute carrier family 30 (zinc transporter), member 2	37					positive regulation of sequestering of zinc ion (GO:0061090)|transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)	cation transmembrane transporter activity (GO:0008324)	p.G37V(1)		cervix(1)|endometrium(2)|kidney(1)|lung(8)|stomach(1)	13		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;7.09e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000728)|BRCA - Breast invasive adenocarcinoma(304;0.000969)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00614)|READ - Rectum adenocarcinoma(331;0.0649)		CAAGTCCAGGCCAGGTCGGGG	0.612																																							uc001blh.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(109-111)GGC>GTC		solute carrier family 30, member 2 isoform 2							75.0	72.0	73.0					1																	26371649		2203	4300	6503	SO:0001583	missense	7780				positive regulation of sequestering of zinc ion|zinc ion transport	integral to membrane|late endosome|lysosomal membrane	cation transmembrane transporter activity	g.chr1:26371649C>A	AK023491	CCDS272.1, CCDS30644.1	1p35.3	2013-05-22			ENSG00000158014	ENSG00000158014		"""Solute carriers"""	11013	protein-coding gene	gene with protein product		609617		ZNT2			Standard	NM_001004434		Approved		uc001blg.1	Q9BRI3	OTTHUMG00000007508	ENST00000374278.3:c.110G>T	1.37:g.26371649C>A	ENSP00000363396:p.Gly37Val					SLC30A2_uc001blg.1_Missense_Mutation_p.G37V	p.G37V	NM_032513	NP_115902	Q9BRI3	ZNT2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;7.09e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000728)|BRCA - Breast invasive adenocarcinoma(304;0.000969)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00614)|READ - Rectum adenocarcinoma(331;0.0649)	2	327	-		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)	37			Cytoplasmic (Potential).		Q71RC8	Missense_Mutation	SNP	ENST00000374278.3	37	c.110G>T	CCDS272.1	.	.	.	.	.	.	.	.	.	.	C	11.84	1.757967	0.31137	.	.	ENSG00000158014	ENST00000374278;ENST00000374276	T;T	0.64085	0.41;-0.08	4.6	-2.43	0.06522	.	1.387090	0.04474	N	0.376522	T	0.47783	0.1464	L	0.44542	1.39	0.09310	N	0.999997	B;B	0.29646	0.021;0.253	B;B	0.29942	0.017;0.109	T	0.14615	-1.0466	10	0.27785	T	0.31	-0.3798	1.3742	0.02217	0.2611:0.3242:0.2552:0.1595	.	37;37	Q9BRI3;Q9BRI3-2	ZNT2_HUMAN;.	V	37	ENSP00000363396:G37V;ENSP00000363394:G37V	ENSP00000363394:G37V	G	-	2	0	SLC30A2	26244236	0.017000	0.18338	0.000000	0.03702	0.075000	0.17131	0.247000	0.18179	-0.742000	0.04790	0.655000	0.94253	GGC		0.612	SLC30A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000019742.1	NM_032513		22	68	1	0	1.10513e-12	0.002299	1.68826e-12	22	68				
RPS6KA1	6195	broad.mit.edu	37	1	26887237	26887237	+	Silent	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr1:26887237G>T	ENST00000374168.2	+	15	1390	c.1236G>T	c.(1234-1236)ctG>ctT	p.L412L	RPS6KA1_ENST00000374166.4_Silent_p.L401L|RPS6KA1_ENST00000374162.2_Silent_p.L320L|RPS6KA1_ENST00000526792.1_Silent_p.L320L|RPS6KA1_ENST00000530003.1_Silent_p.L396L|RPS6KA1_ENST00000531382.1_Silent_p.L421L	NM_002953.3	NP_002944.2	Q15418	KS6A1_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 1	412					axon guidance (GO:0007411)|cell cycle (GO:0007049)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell growth (GO:0030307)|positive regulation of hepatic stellate cell activation (GO:2000491)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA-templated transcription in response to stress (GO:0043620)|regulation of translation in response to stress (GO:0043555)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)	p.L421L(1)		lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)		GGAAGAACCTGGTTTTTAGTG	0.537																																							uc001bmr.1		NA																	1	Substitution - coding silent(1)		lung(1)	lung(1)	1						c.(1234-1236)CTG>CTT		ribosomal protein S6 kinase, 90kDa, polypeptide							116.0	114.0	114.0					1																	26887237		2203	4300	6503	SO:0001819	synonymous_variant	6195				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr1:26887237G>T	BC014966	CCDS284.1, CCDS30649.1	1p	2011-04-05	2002-08-29		ENSG00000117676	ENSG00000117676			10430	protein-coding gene	gene with protein product		601684	"""ribosomal protein S6 kinase, 90kD, polypeptide 1"""			8141249	Standard	NM_001006665		Approved	RSK, RSK1, HU-1	uc001bms.1	Q15418	OTTHUMG00000004003	ENST00000374168.2:c.1236G>T	1.37:g.26887237G>T						RPS6KA1_uc010ofe.1_Silent_p.L320L|RPS6KA1_uc010off.1_Silent_p.L396L|RPS6KA1_uc001bms.1_Silent_p.L421L|RPS6KA1_uc009vsl.1_Silent_p.L255L	p.L412L	NM_002953	NP_002944	Q15418	KS6A1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)	15	1399	+		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	412					A6NGG4|A8K9K7|B2RDY8|B7Z5J0|Q5SVM5|Q5SVM8|Q5SVM9|Q96C05|Q9BQK2	Silent	SNP	ENST00000374168.2	37	c.1236G>T	CCDS284.1																																																																																				0.537	RPS6KA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011431.1	NM_002953		28	43	1	0	5.77227e-19	0.008361	9.91472e-19	28	43				
ARID1A	8289	broad.mit.edu	37	1	27100358	27100358	+	Missense_Mutation	SNP	A	A	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr1:27100358A>T	ENST00000324856.7	+	17	4441	c.4070A>T	c.(4069-4071)cAg>cTg	p.Q1357L	ARID1A_ENST00000540690.1_5'UTR|ARID1A_ENST00000457599.2_Missense_Mutation_p.Q1357L|ARID1A_ENST00000374152.2_Missense_Mutation_p.Q974L	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1357	Gln-rich.				androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)	p.Q1357L(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		TTCCCCAGCCAGCAGACTACA	0.502			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																		uc001bmv.1		NA		Rec	yes		1	1p35.3	8289	Mis|N|F|S|D	AT rich interactive domain 1A (SWI-like)			E			clear cell ovarian carcinoma|RCC		1	Substitution - Missense(1)		lung(1)	ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142						c.(4069-4071)CAG>CTG		AT rich interactive domain 1A isoform a							144.0	152.0	149.0					1																	27100358		2203	4300	6503	SO:0001583	missense	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27100358A>T	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.4070A>T	1.37:g.27100358A>T	ENSP00000320485:p.Gln1357Leu					ARID1A_uc001bmt.1_Missense_Mutation_p.Q1356L|ARID1A_uc001bmu.1_Missense_Mutation_p.Q1357L|ARID1A_uc001bmw.1_Missense_Mutation_p.Q974L|ARID1A_uc001bmx.1_Missense_Mutation_p.Q203L|ARID1A_uc009vsm.1_5'UTR|ARID1A_uc009vsn.1_5'Flank	p.Q1357L	NM_006015	NP_006006	O14497	ARI1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)	17	4443	+		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	1357			Gln-rich.		D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Missense_Mutation	SNP	ENST00000324856.7	37	c.4070A>T	CCDS285.1	.	.	.	.	.	.	.	.	.	.	A	14.12	2.440631	0.43326	.	.	ENSG00000117713	ENST00000324856;ENST00000457599;ENST00000374152	T;T;T	0.02737	4.37;4.18;4.19	5.57	5.57	0.84162	.	0.051872	0.85682	D	0.000000	T	0.09113	0.0225	L	0.42245	1.32	0.80722	D	1	P;P;D;D	0.63046	0.949;0.956;0.992;0.987	P;P;D;D	0.72982	0.6;0.549;0.979;0.953	T	0.49725	-0.8909	10	0.12430	T	0.62	-6.1263	15.7168	0.77674	1.0:0.0:0.0:0.0	.	974;1357;1357;1010	O14497-3;O14497;O14497-2;Q4LE49	.;ARI1A_HUMAN;.;.	L	1357;1357;974	ENSP00000320485:Q1357L;ENSP00000387636:Q1357L;ENSP00000363267:Q974L	ENSP00000320485:Q1357L	Q	+	2	0	ARID1A	26972945	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.013000	0.76373	2.124000	0.65301	0.533000	0.62120	CAG		0.502	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		69	151	0	0	0	0.00361	0	69	151				
MATN1	4146	broad.mit.edu	37	1	31194360	31194360	+	Silent	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr1:31194360G>T	ENST00000373765.4	-	2	368	c.333C>A	c.(331-333)atC>atA	p.I111I	MATN1_ENST00000477320.1_5'Flank|MATN1-AS1_ENST00000414763.1_RNA|MATN1-AS1_ENST00000454613.1_RNA|MATN1-AS1_ENST00000414532.2_RNA	NM_002379.3	NP_002370.1	P21941	MATN1_HUMAN	matrilin 1, cartilage matrix protein	111	VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				extracellular matrix organization (GO:0030198)|growth plate cartilage chondrocyte morphogenesis (GO:0003429)|protein complex assembly (GO:0006461)|regulation of bone mineralization (GO:0030500)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)	p.I111I(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.00792)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)|Ovarian(437;0.0563)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-05)|COAD - Colon adenocarcinoma(152;0.000726)|STAD - Stomach adenocarcinoma(196;0.0183)|READ - Rectum adenocarcinoma(331;0.0649)		ACAGCGGCTGGATACGGCGCA	0.637																																							uc001brz.2		NA																	1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(331-333)ATC>ATA		matrilin 1, cartilage matrix protein precursor							115.0	106.0	109.0					1																	31194360		2203	4300	6503	SO:0001819	synonymous_variant	4146				protein complex assembly	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding	g.chr1:31194360G>T	M55675	CCDS336.1	1p35	2008-02-05			ENSG00000162510	ENSG00000162510			6907	protein-coding gene	gene with protein product		115437		CRTM, CMP		2246248, 9083061	Standard	NM_002379		Approved		uc001brz.3	P21941	OTTHUMG00000003705	ENST00000373765.4:c.333C>A	1.37:g.31194360G>T						uc001bsb.1_RNA|MATN1_uc001bsa.1_5'Flank	p.I111I	NM_002379	NP_002370	P21941	MATN1_HUMAN		Colorectal(126;1.29e-05)|COAD - Colon adenocarcinoma(152;0.000726)|STAD - Stomach adenocarcinoma(196;0.0183)|READ - Rectum adenocarcinoma(331;0.0649)	2	367	-		Colorectal(325;0.00792)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)|Ovarian(437;0.0563)|Breast(348;0.0848)|Medulloblastoma(700;0.123)	111			VWFA 1.		B2R7E3|Q5TBB9	Silent	SNP	ENST00000373765.4	37	c.333C>A	CCDS336.1																																																																																				0.637	MATN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010458.1	NM_002379		25	85	1	0	2.50493e-22	0.004656	4.45224e-22	25	85				
CLSPN	63967	broad.mit.edu	37	1	36217085	36217085	+	Missense_Mutation	SNP	T	T	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr1:36217085T>A	ENST00000318121.3	-	10	1851	c.1794A>T	c.(1792-1794)aaA>aaT	p.K598N	CLSPN_ENST00000520551.1_Missense_Mutation_p.K598N|CLSPN_ENST00000373220.3_Missense_Mutation_p.K534N|CLSPN_ENST00000251195.5_Missense_Mutation_p.K598N	NM_022111.3	NP_071394.2	Q9HAW4	CLSPN_HUMAN	claspin	598					activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|G2 DNA damage checkpoint (GO:0031572)|mitotic DNA replication checkpoint (GO:0033314)|peptidyl-serine phosphorylation (GO:0018105)	nucleoplasm (GO:0005654)	anaphase-promoting complex binding (GO:0010997)|DNA binding (GO:0003677)	p.K598N(2)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GCAGTTTAGCTTTTAACACCT	0.378																																							uc001bzi.2		NA																	2	Substitution - Missense(2)		lung(2)	breast(2)|ovary(2)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)	8						c.(1792-1794)AAA>AAT		claspin							78.0	77.0	78.0					1																	36217085		2203	4300	6503	SO:0001583	missense	63967				activation of protein kinase activity|cell cycle|cellular component disassembly involved in apoptosis|DNA repair|DNA replication|G2/M transition DNA damage checkpoint|mitotic cell cycle DNA replication checkpoint|peptidyl-serine phosphorylation	nucleoplasm	anaphase-promoting complex binding|DNA binding	g.chr1:36217085T>A	AF297866	CCDS396.1, CCDS53297.1	1p34.3	2010-06-24	2010-06-24		ENSG00000092853	ENSG00000092853			19715	protein-coding gene	gene with protein product		605434	"""claspin homolog (Xenopus laevis)"""			11090622, 12766152	Standard	NM_022111		Approved		uc001bzi.3	Q9HAW4	OTTHUMG00000004168	ENST00000318121.3:c.1794A>T	1.37:g.36217085T>A	ENSP00000312995:p.Lys598Asn					CLSPN_uc009vux.2_Missense_Mutation_p.K534N	p.K598N	NM_022111	NP_071394	Q9HAW4	CLSPN_HUMAN			10	1874	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	598			Potential.		A6NFL4|Q1RMC6|Q2KHM3|Q5VYG0|Q6P6H5|Q8IWI1	Missense_Mutation	SNP	ENST00000318121.3	37	c.1794A>T	CCDS396.1	.	.	.	.	.	.	.	.	.	.	T	19.81	3.896001	0.72639	.	.	ENSG00000092853	ENST00000251195;ENST00000318121;ENST00000373220;ENST00000520551;ENST00000544356	T;T;T;T	0.52983	0.83;0.85;0.64;0.82	5.58	5.58	0.84498	.	0.139770	0.64402	D	0.000019	T	0.66187	0.2764	M	0.74258	2.255	0.44745	D	0.997745	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.69595	-0.5103	10	0.66056	D	0.02	-23.8269	10.0038	0.41944	0.0:0.1199:0.0:0.8801	.	534;598	Q9HAW4-2;Q9HAW4	.;CLSPN_HUMAN	N	598;598;534;598;598	ENSP00000251195:K598N;ENSP00000312995:K598N;ENSP00000362317:K534N;ENSP00000428848:K598N	ENSP00000251195:K598N	K	-	3	2	CLSPN	35989672	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	1.887000	0.39698	2.130000	0.65690	0.377000	0.23210	AAA		0.378	CLSPN-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377857.1	NM_022111		12	32	0	0	0	0.001855	0	12	32				
KCNQ4	9132	broad.mit.edu	37	1	41304035	41304035	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr1:41304035G>T	ENST00000347132.5	+	14	2010	c.1928G>T	c.(1927-1929)tGc>tTc	p.C643F	KCNQ4_ENST00000506017.1_3'UTR|KCNQ4_ENST00000509682.2_Missense_Mutation_p.C589F	NM_004700.3|NM_172163.2	NP_004691.2|NP_751895.1	P56696	KCNQ4_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 4	643	A-domain (Tetramerization).				inner ear morphogenesis (GO:0042472)|potassium ion transport (GO:0006813)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)	p.C643F(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(13)|skin(1)	26	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)		Ezogabine(DB04953)	TATTCGCGCTGCCTGCGCTCT	0.682																																							uc001cgh.1		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(1927-1929)TGC>TTC		potassium voltage-gated channel KQT-like protein							102.0	102.0	102.0					1																	41304035		2203	4300	6503	SO:0001583	missense	9132				sensory perception of sound	basal plasma membrane|voltage-gated potassium channel complex		g.chr1:41304035G>T	AF105202	CCDS456.1	1p34	2012-07-05			ENSG00000117013	ENSG00000117013		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6298	protein-coding gene	gene with protein product		603537		DFNA2		10025409, 16382104	Standard	NM_004700		Approved	Kv7.4	uc001cgh.2	P56696	OTTHUMG00000007730	ENST00000347132.5:c.1928G>T	1.37:g.41304035G>T	ENSP00000262916:p.Cys643Phe					KCNQ4_uc001cgi.1_Missense_Mutation_p.C589F	p.C643F	NM_004700	NP_004691	P56696	KCNQ4_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)		14	2010	+	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	643			|Cytoplasmic.|A-domain (Tetramerization).		O96025	Missense_Mutation	SNP	ENST00000347132.5	37	c.1928G>T	CCDS456.1	.	.	.	.	.	.	.	.	.	.	G	11.64	1.699190	0.30142	.	.	ENSG00000117013	ENST00000347132;ENST00000509682	D;D	0.99607	-6.27;-6.27	4.78	4.78	0.61160	Potassium channel, voltage dependent, KCNQ, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.99354	0.9773	L	0.54323	1.7	0.58432	D	0.999999	P;D	0.71674	0.637;0.998	B;D	0.68483	0.284;0.958	D	0.98735	1.0714	10	0.48119	T	0.1	-29.9133	15.2998	0.73940	0.0:0.0:1.0:0.0	.	589;643	P56696-2;P56696	.;KCNQ4_HUMAN	F	643;589	ENSP00000262916:C643F;ENSP00000423756:C589F	ENSP00000262916:C643F	C	+	2	0	KCNQ4	41076622	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	7.803000	0.85983	2.214000	0.71695	0.305000	0.20034	TGC		0.682	KCNQ4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000020812.1	NM_004700		27	77	1	0	4.87955e-14	0.005443	7.70774e-14	27	77				
CCDC30	728621	broad.mit.edu	37	1	43108212	43108212	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr1:43108212G>T	ENST00000340612.4	+	11	1707	c.1707G>T	c.(1705-1707)caG>caT	p.Q569H	CCDC30_ENST00000507855.1_Missense_Mutation_p.Q358H|CCDC30_ENST00000342022.4_Missense_Mutation_p.Q569H|CCDC30_ENST00000428554.2_Missense_Mutation_p.Q569H|CCDC30_ENST00000390640.4_Missense_Mutation_p.Q358H			Q5VVM6	CCD30_HUMAN	coiled-coil domain containing 30	569						extracellular vesicular exosome (GO:0070062)		p.Q569H(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						GGAAACTTCAGGAGCAAGTCA	0.458																																							uc009vwk.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1705-1707)CAG>CAT		coiled-coil domain containing 30							162.0	160.0	160.0					1																	43108212		2203	4300	6503	SO:0001583	missense	728621							g.chr1:43108212G>T	AY639646	CCDS30690.1	1p34.2	2009-07-09			ENSG00000186409	ENSG00000186409			26103	protein-coding gene	gene with protein product	"""prefoldin 6-like"""					16710767	Standard	NM_001080850		Approved	FLJ20972, PFD6L, LOC728621	uc009vwk.1	Q5VVM6	OTTHUMG00000007334	ENST00000340612.4:c.1707G>T	1.37:g.43108212G>T	ENSP00000340378:p.Gln569His					CCDC30_uc001chm.2_Missense_Mutation_p.Q267H|CCDC30_uc001chn.2_Missense_Mutation_p.Q358H	p.Q569H	NM_001080850	NP_001074319	Q5VVM6	CCD30_HUMAN			12	1817	+			569			Potential.		Q14F06|Q5VVM5	Missense_Mutation	SNP	ENST00000340612.4	37	c.1707G>T	CCDS30690.1	.	.	.	.	.	.	.	.	.	.	G	13.90	2.376120	0.42105	.	.	ENSG00000186409	ENST00000428554;ENST00000507855;ENST00000340612;ENST00000342022;ENST00000390640	T;T;T;T;T	0.42513	0.97;0.97;0.97;0.97;0.97	5.62	0.993	0.19825	.	0.073998	0.53938	D	0.000053	T	0.16471	0.0396	N	0.08118	0	0.21933	N	0.999465	P;P	0.44946	0.456;0.846	B;B	0.37346	0.247;0.243	T	0.13629	-1.0502	10	0.49607	T	0.09	.	3.6483	0.08194	0.3447:0.1893:0.466:0.0	.	569;358	Q5VVM6;Q5VVM6-2	CCD30_HUMAN;.	H	569;358;569;569;358	ENSP00000397035:Q569H;ENSP00000426711:Q358H;ENSP00000340378:Q569H;ENSP00000339280:Q569H;ENSP00000375051:Q358H	ENSP00000340378:Q569H	Q	+	3	2	CCDC30	42880799	0.973000	0.33851	0.953000	0.39169	0.753000	0.42808	-0.043000	0.12043	0.295000	0.22570	0.655000	0.94253	CAG		0.458	CCDC30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019524.3	NM_025030		52	132	1	0	9.79885e-19	0.00361	1.68027e-18	52	132				
PDE4B	5142	broad.mit.edu	37	1	66833714	66833714	+	Missense_Mutation	SNP	T	T	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr1:66833714T>A	ENST00000329654.4	+	15	1815	c.1628T>A	c.(1627-1629)gTt>gAt	p.V543D	PDE4B_ENST00000480109.2_Missense_Mutation_p.V310D|PDE4B_ENST00000371049.3_Missense_Mutation_p.V543D|PDE4B_ENST00000423207.2_Missense_Mutation_p.V528D|PDE4B_ENST00000371045.5_Missense_Mutation_p.V371D	NM_001037341.1	NP_001032418.1	Q07343	PDE4B_HUMAN	phosphodiesterase 4B, cAMP-specific	543					cAMP catabolic process (GO:0006198)|cellular response to drug (GO:0035690)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to lipopolysaccharide (GO:0071222)|leukocyte migration (GO:0050900)|negative regulation of relaxation of cardiac muscle (GO:1901898)|neutrophil chemotaxis (GO:0030593)|neutrophil homeostasis (GO:0001780)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 production (GO:0032743)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of high voltage-gated calcium channel activity (GO:1901841)|T cell receptor signaling pathway (GO:0050852)	cell periphery (GO:0071944)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)	p.V543D(1)|p.V528D(1)|p.V371D(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	37					Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Dyphylline(DB00651)|Enprofylline(DB00824)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Roflumilast(DB01656)|Theobromine(DB01412)|Theophylline(DB00277)	AGTTCAGGCGTTCTTCTCCTA	0.383																																							uc001dcn.2		NA																	3	Substitution - Missense(3)		lung(3)	ovary(2)|central_nervous_system(1)	3						c.(1627-1629)GTT>GAT		phosphodiesterase 4B isoform 1	Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Cilostazol(DB01166)|Dyphylline(DB00651)|Enprofylline(DB00824)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Theophylline(DB00277)						91.0	89.0	90.0					1																	66833714		2203	4300	6503	SO:0001583	missense	5142				signal transduction	cytosol|insoluble fraction|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	g.chr1:66833714T>A	L20971	CCDS632.1, CCDS30742.1, CCDS30743.1, CCDS72802.1	1p31	2010-06-24	2010-06-24		ENSG00000184588	ENSG00000184588		"""Phosphodiesterases"""	8781	protein-coding gene	gene with protein product	"""phosphodiesterase E4 dunce homolog (Drosophila)"""	600127	"""phosphodiesterase 4B, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E4)"", ""phosphodiesterase 4B, cAMP-specific (phosphodiesterase E4 dunce homolog, Drosophila)"""	DPDE4			Standard	XM_005270925		Approved		uc001dco.3	Q07343	OTTHUMG00000009088	ENST00000329654.4:c.1628T>A	1.37:g.66833714T>A	ENSP00000332116:p.Val543Asp					PDE4B_uc009war.2_Missense_Mutation_p.V451D|PDE4B_uc001dco.2_Missense_Mutation_p.V543D|PDE4B_uc001dcp.2_Missense_Mutation_p.V528D|PDE4B_uc001dcq.2_Missense_Mutation_p.V371D|PDE4B_uc009was.2_Missense_Mutation_p.V310D	p.V543D	NM_001037341	NP_001032418	Q07343	PDE4B_HUMAN			15	1819	+			543					A5YW33|O15443|Q13945|Q5TEK4|Q5TEK5|Q5TEK6	Missense_Mutation	SNP	ENST00000329654.4	37	c.1628T>A	CCDS632.1	.	.	.	.	.	.	.	.	.	.	T	17.70	3.455256	0.63401	.	.	ENSG00000184588	ENST00000329654;ENST00000341517;ENST00000371049;ENST00000423207;ENST00000371045;ENST00000480109	T;T;T;T;T;T	0.70869	-0.52;-0.52;-0.52;-0.52;-0.52;-0.52	5.11	5.11	0.69529	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.000000	0.85682	D	0.000000	T	0.73598	0.3607	L	0.45422	1.42	0.80722	D	1	D;D;D;D;D	0.89917	0.988;1.0;1.0;1.0;1.0	P;D;D;D;D	0.97110	0.633;0.999;0.999;1.0;1.0	T	0.75741	-0.3211	10	0.49607	T	0.09	.	15.0639	0.71977	0.0:0.0:0.0:1.0	.	310;528;413;533;543	A5YW33;Q07343-3;Q13945;Q59GM8;Q07343	.;.;.;.;PDE4B_HUMAN	D	543;543;543;528;371;310	ENSP00000332116:V543D;ENSP00000342637:V543D;ENSP00000360088:V543D;ENSP00000392947:V528D;ENSP00000360084:V371D;ENSP00000432592:V310D	ENSP00000332116:V543D	V	+	2	0	PDE4B	66606302	1.000000	0.71417	0.996000	0.52242	0.356000	0.29392	7.857000	0.86963	2.143000	0.66587	0.482000	0.46254	GTT		0.383	PDE4B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000025188.3	NM_002600		6	41	0	0	0	0.001984	0	6	41				
LRRC7	57554	broad.mit.edu	37	1	70505179	70505179	+	Silent	SNP	G	G	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr1:70505179G>A	ENST00000035383.5	+	19	3588	c.3558G>A	c.(3556-3558)gcG>gcA	p.A1186A	LRRC7_ENST00000415775.2_Silent_p.A470A|LRRC7_ENST00000310961.5_Silent_p.A1191A	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1186						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)		p.A1186A(1)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						AAGCTCAGGCGGGAAGTTTTC	0.488																																							uc001dep.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(9)|breast(2)|central_nervous_system(2)|liver(1)	14						c.(3556-3558)GCG>GCA		leucine rich repeat containing 7							59.0	58.0	59.0					1																	70505179		2203	4300	6503	SO:0001819	synonymous_variant	57554					centrosome|focal adhesion|nucleolus	protein binding	g.chr1:70505179G>A		CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.3558G>A	1.37:g.70505179G>A						LRRC7_uc009wbg.2_Silent_p.A470A|LRRC7_uc001deq.2_Silent_p.A427A	p.A1186A	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN			19	3588	+			1186					Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Silent	SNP	ENST00000035383.5	37	c.3558G>A	CCDS645.1																																																																																				0.488	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794		6	26	0	0	0	0.001168	0	6	26				
LRRC7	57554	broad.mit.edu	37	1	70505385	70505385	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr1:70505385C>A	ENST00000035383.5	+	19	3794	c.3764C>A	c.(3763-3765)aCt>aAt	p.T1255N	LRRC7_ENST00000415775.2_Missense_Mutation_p.T539N|LRRC7_ENST00000310961.5_Missense_Mutation_p.T1260N	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1255						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)		p.T1255N(1)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						ACGAGGCCTACTCCTGTGAAG	0.448																																							uc001dep.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(9)|breast(2)|central_nervous_system(2)|liver(1)	14						c.(3763-3765)ACT>AAT		leucine rich repeat containing 7							87.0	85.0	86.0					1																	70505385		2203	4300	6503	SO:0001583	missense	57554					centrosome|focal adhesion|nucleolus	protein binding	g.chr1:70505385C>A		CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.3764C>A	1.37:g.70505385C>A	ENSP00000035383:p.Thr1255Asn					LRRC7_uc009wbg.2_Missense_Mutation_p.T539N|LRRC7_uc001deq.2_Missense_Mutation_p.T496N	p.T1255N	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN			19	3794	+			1255					Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Missense_Mutation	SNP	ENST00000035383.5	37	c.3764C>A	CCDS645.1	.	.	.	.	.	.	.	.	.	.	C	0.005	-2.191892	0.00302	.	.	ENSG00000033122	ENST00000310961;ENST00000035383;ENST00000415775;ENST00000370957	T;T;T	0.36699	1.24;1.31;2.41	6.16	5.25	0.73442	.	0.232564	0.45361	D	0.000365	T	0.03959	0.0111	N	0.02539	-0.55	0.21290	N	0.99973	B;B;B	0.11235	0.004;0.001;0.001	B;B;B	0.09377	0.004;0.001;0.001	T	0.35599	-0.9782	10	0.02654	T	1	.	11.6109	0.51059	0.1402:0.7251:0.1347:0.0	.	539;1255;1255	F8WE45;Q96NW7-2;Q96NW7	.;.;LRRC7_HUMAN	N	1260;1255;539;1078	ENSP00000309245:T1260N;ENSP00000035383:T1255N;ENSP00000394867:T539N	ENSP00000035383:T1255N	T	+	2	0	LRRC7	70277973	0.650000	0.27331	0.608000	0.28969	0.005000	0.04900	2.820000	0.48057	1.605000	0.50152	-0.181000	0.13052	ACT		0.448	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794		14	77	1	0	0.000151284	0.001855	0.000169346	14	77				
GBP6	163351	broad.mit.edu	37	1	89847391	89847391	+	Missense_Mutation	SNP	A	A	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr1:89847391A>T	ENST00000370456.4	+	7	1103	c.1010A>T	c.(1009-1011)cAg>cTg	p.Q337L	GBP6_ENST00000535065.1_Missense_Mutation_p.Q207L	NM_198460.2	NP_940862.2	Q6ZN66	GBP6_HUMAN	guanylate binding protein family, member 6	337					cellular response to interferon-gamma (GO:0071346)|defense response to bacterium (GO:0042742)|immune response (GO:0006955)	extracellular vesicular exosome (GO:0070062)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.Q337L(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42		Lung NSC(277;0.0908)		all cancers(265;0.0108)|Epithelial(280;0.0398)		TACAGCCAGCAGATGGCCCAG	0.587																																							uc001dnf.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1009-1011)CAG>CTG		guanylate binding protein family, member 6							79.0	74.0	75.0					1																	89847391		2203	4300	6503	SO:0001583	missense	163351						GTP binding|GTPase activity	g.chr1:89847391A>T	BX537949	CCDS723.1	1p22	2008-02-05			ENSG00000183347	ENSG00000183347			25395	protein-coding gene	gene with protein product		612467					Standard	NM_198460		Approved	DKFZp686G0786	uc001dnf.2	Q6ZN66	OTTHUMG00000010123	ENST00000370456.4:c.1010A>T	1.37:g.89847391A>T	ENSP00000359485:p.Gln337Leu					GBP6_uc010ost.1_Missense_Mutation_p.Q207L	p.Q337L	NM_198460	NP_940862	Q6ZN66	GBP6_HUMAN		all cancers(265;0.0108)|Epithelial(280;0.0398)	7	1284	+		Lung NSC(277;0.0908)	337					A2RRM3|Q6ZN86|Q7Z3F0	Missense_Mutation	SNP	ENST00000370456.4	37	c.1010A>T	CCDS723.1	.	.	.	.	.	.	.	.	.	.	A	10.51	1.370469	0.24771	.	.	ENSG00000183347	ENST00000544311;ENST00000370456;ENST00000535065	T;T	0.56103	0.48;0.48	4.97	2.44	0.29823	Guanylate-binding protein, C-terminal (3);	0.280748	0.28977	N	0.013525	T	0.37376	0.1001	M	0.74546	2.27	0.36672	D	0.878576	B	0.25904	0.137	B	0.34873	0.191	T	0.29579	-1.0007	10	0.41790	T	0.15	-16.9023	8.2108	0.31481	0.6818:0.0:0.0:0.3182	.	337	Q6ZN66	GBP6_HUMAN	L	308;337;207	ENSP00000359485:Q337L;ENSP00000442530:Q207L	ENSP00000359485:Q337L	Q	+	2	0	GBP6	89619979	0.468000	0.25839	0.937000	0.37676	0.204000	0.24138	0.396000	0.20867	0.717000	0.32145	-0.481000	0.04817	CAG		0.587	GBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028001.1	NM_198460		4	36	0	0	0	0.001984	0	4	36				
PLPPR5	163404	broad.mit.edu	37	1	99418782	99418782	+	Nonsense_Mutation	SNP	A	A	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr1:99418782A>T	ENST00000263177.4	-	3	686	c.465T>A	c.(463-465)tgT>tgA	p.C155*	LPPR5_ENST00000370188.3_Nonsense_Mutation_p.C155*	NM_001037317.1	NP_001032394.1	Q32ZL2	LPPR5_HUMAN		155						integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)	p.C155*(1)									AATTGGGCTTACACAGGGCAA	0.458																																							uc001dsb.2		NA																	1	Substitution - Nonsense(1)		lung(1)		0						c.(463-465)TGT>TGA		phosphatidic acid phosphatase type 2d isoform 1							105.0	99.0	101.0					1																	99418782		2203	4300	6503	SO:0001587	stop_gained	163404					integral to membrane	hydrolase activity	g.chr1:99418782A>T																												ENST00000263177.4:c.465T>A	1.37:g.99418782A>T	ENSP00000263177:p.Cys155*					LPPR5_uc001dsc.2_Nonsense_Mutation_p.C155*	p.C155*	NM_001037317	NP_001032394	Q32ZL2	LPPR5_HUMAN			3	687	-			155					A8MPX4|B7UCH3|Q32ZD0|Q3ZCU7	Nonsense_Mutation	SNP	ENST00000263177.4	37	c.465T>A	CCDS30778.1	.	.	.	.	.	.	.	.	.	.	A	37	6.631671	0.97722	.	.	ENSG00000117598	ENST00000370188;ENST00000263177	.	.	.	4.9	2.54	0.30619	.	0.045594	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.1762	0.37114	0.8403:0.0:0.1597:0.0	.	.	.	.	X	155	.	ENSP00000263177:C155X	C	-	3	2	AL161744.1	99191370	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.487000	0.35540	0.815000	0.34398	0.533000	0.62120	TGT		0.458	LPPR5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000393221.1			20	54	0	0	0	0.00333	0	20	54				
PLPPR4	9890	broad.mit.edu	37	1	99772039	99772039	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr1:99772039C>A	ENST00000370185.3	+	7	2262	c.1765C>A	c.(1765-1767)Ctc>Atc	p.L589I	LPPR4_ENST00000457765.1_Missense_Mutation_p.L531I|LPPR4_ENST00000370184.1_Missense_Mutation_p.L431I	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		589					axonogenesis (GO:0007409)|inner ear development (GO:0048839)|phospholipid dephosphorylation (GO:0046839)	integral component of plasma membrane (GO:0005887)	lipid phosphatase activity (GO:0042577)|phosphatidate phosphatase activity (GO:0008195)	p.L589I(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		GCAGGGTGTCCTCCAAAGCAG	0.532																																							uc001dse.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(1765-1767)CTC>ATC		plasticity related gene 1							64.0	64.0	64.0					1																	99772039		2203	4300	6503	SO:0001583	missense	9890						phosphatidate phosphatase activity	g.chr1:99772039C>A																												ENST00000370185.3:c.1765C>A	1.37:g.99772039C>A	ENSP00000359204:p.Leu589Ile					LPPR4_uc010oue.1_Missense_Mutation_p.L531I	p.L589I	NM_014839	NP_055654	Q7Z2D5	LPPR4_HUMAN		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)	7	1871	+		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)	589					E7EPS1|O75043|Q5T9R9|Q86XQ5|Q8N3F1|Q96MP0	Missense_Mutation	SNP	ENST00000370185.3	37	c.1765C>A	CCDS757.1	.	.	.	.	.	.	.	.	.	.	C	19.53	3.844837	0.71603	.	.	ENSG00000117600	ENST00000370185;ENST00000457765;ENST00000370184	T;T;T	0.26067	2.32;2.28;1.76	5.9	5.9	0.94986	.	0.066011	0.64402	D	0.000008	T	0.38374	0.1038	L	0.47716	1.5	0.53688	D	0.999974	D;D	0.67145	0.996;0.983	D;P	0.75484	0.986;0.804	T	0.01316	-1.1387	9	.	.	.	-21.0296	20.2822	0.98520	0.0:1.0:0.0:0.0	.	531;589	E7EPS1;Q7Z2D5	.;LPPR4_HUMAN	I	589;531;431	ENSP00000359204:L589I;ENSP00000394913:L531I;ENSP00000359203:L431I	.	L	+	1	0	RP4-788L13.1	99544627	0.996000	0.38824	0.995000	0.50966	0.880000	0.50808	3.462000	0.53042	2.806000	0.96561	0.655000	0.94253	CTC		0.532	LPPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029670.2			11	19	1	0	6.40141e-05	0.000978	7.26916e-05	11	19				
SASS6	163786	broad.mit.edu	37	1	100588014	100588014	+	Missense_Mutation	SNP	A	A	C			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr1:100588014A>C	ENST00000287482.5	-	4	373	c.233T>G	c.(232-234)gTa>gGa	p.V78G	SASS6_ENST00000535161.1_5'UTR|SASS6_ENST00000462159.1_5'UTR	NM_194292.1	NP_919268.1	Q6UVJ0	SAS6_HUMAN	spindle assembly 6 homolog (C. elegans)	78	PISA.				centriole replication (GO:0007099)|centrosome duplication (GO:0051298)	centriole (GO:0005814)|centrosome (GO:0005813)|deuterosome (GO:0098536)		p.V78G(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	19		all_epithelial(167;4.58e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.085)|all cancers(265;0.139)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.197)		TAAGAAGTCTACCAGAAGACC	0.308																																							uc001dsu.2		NA																	1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(232-234)GTA>GGA		spindle assembly abnormal protein 6							72.0	73.0	73.0					1																	100588014		2203	4300	6503	SO:0001583	missense	163786				centriole replication	centriole		g.chr1:100588014A>C	AL834265	CCDS764.1	1p21.3	2008-02-05			ENSG00000156876	ENSG00000156876			25403	protein-coding gene	gene with protein product		609321				15665853, 14654843	Standard	NM_194292		Approved	DKFZp761A078, SAS-6, FLJ22097, SAS6	uc001dsu.3	Q6UVJ0	OTTHUMG00000010754	ENST00000287482.5:c.233T>G	1.37:g.100588014A>C	ENSP00000287482:p.Val78Gly					SASS6_uc009wdz.2_5'UTR	p.V78G	NM_194292	NP_919268	Q6UVJ0	SAS6_HUMAN		Epithelial(280;0.085)|all cancers(265;0.139)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.197)	4	374	-		all_epithelial(167;4.58e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)	78			PISA.		D3DT55|Q8N3K0	Missense_Mutation	SNP	ENST00000287482.5	37	c.233T>G	CCDS764.1	.	.	.	.	.	.	.	.	.	.	A	23.1	4.380290	0.82682	.	.	ENSG00000156876	ENST00000287482;ENST00000539329	T	0.45276	0.9	5.92	5.92	0.95590	.	0.183843	0.47852	D	0.000205	T	0.60818	0.2298	M	0.80616	2.505	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.67345	-0.5694	10	0.87932	D	0	-13.2424	16.0245	0.80532	1.0:0.0:0.0:0.0	.	78	Q6UVJ0	SAS6_HUMAN	G	78;51	ENSP00000287482:V78G	ENSP00000287482:V78G	V	-	2	0	SASS6	100360602	1.000000	0.71417	0.994000	0.49952	0.996000	0.88848	7.965000	0.87945	2.266000	0.75297	0.533000	0.62120	GTA		0.308	SASS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029656.2	NM_194292		8	75	0	0	0	0.004482	0	8	75				
COL11A1	1301	broad.mit.edu	37	1	103343713	103343713	+	Missense_Mutation	SNP	T	T	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr1:103343713T>A	ENST00000370096.3	-	67	5595	c.5283A>T	c.(5281-5283)aaA>aaT	p.K1761N	COL11A1_ENST00000353414.4_Missense_Mutation_p.K1722N|COL11A1_ENST00000358392.2_Missense_Mutation_p.K1773N|COL11A1_ENST00000512756.1_Missense_Mutation_p.K1645N	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1761	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)	p.K1773N(1)|p.K1761N(1)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TTTCATAGCCTTTTCTGGACT	0.303																																							uc001dul.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12						c.(5281-5283)AAA>AAT		alpha 1 type XI collagen isoform A							73.0	67.0	69.0					1																	103343713		2203	4300	6503	SO:0001583	missense	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103343713T>A	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.5283A>T	1.37:g.103343713T>A	ENSP00000359114:p.Lys1761Asn					COL11A1_uc001duk.2_Missense_Mutation_p.K957N|COL11A1_uc001dum.2_Missense_Mutation_p.K1773N|COL11A1_uc001dun.2_Missense_Mutation_p.K1722N|COL11A1_uc009weh.2_Missense_Mutation_p.K1645N	p.K1761N	NM_001854	NP_001845	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	67	5601	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	1761			Fibrillar collagen NC1.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	c.5283A>T	CCDS778.1	.	.	.	.	.	.	.	.	.	.	T	14.56	2.570525	0.45798	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000370090;ENST00000512756	T;T;T;T	0.73789	-0.78;-0.78;-0.78;-0.78	5.36	5.36	0.76844	Fibrillar collagen, C-terminal (4);	0.157431	0.56097	D	0.000031	T	0.55970	0.1954	L	0.49455	1.56	0.54753	D	0.999984	B;B;B;B;B	0.13145	0.004;0.005;0.005;0.007;0.003	B;B;B;B;B	0.14578	0.007;0.004;0.006;0.011;0.003	T	0.62877	-0.6761	10	0.72032	D	0.01	.	10.1866	0.43002	0.0:0.0831:0.0:0.9169	.	1645;1722;1773;1761;981	E9PCU0;P12107-3;P12107-2;P12107;F5H5Z5	.;.;.;COBA1_HUMAN;.	N	1761;1773;1722;981;1645	ENSP00000359114:K1761N;ENSP00000351163:K1773N;ENSP00000302551:K1722N;ENSP00000426533:K1645N	ENSP00000302551:K1722N	K	-	3	2	COL11A1	103116301	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.461000	0.35255	2.239000	0.73571	0.533000	0.62120	AAA		0.303	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		4	18	0	0	0	0.009096	0	4	18				
COL11A1	1301	broad.mit.edu	37	1	103544219	103544219	+	Missense_Mutation	SNP	G	G	T	rs557000127		TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr1:103544219G>T	ENST00000370096.3	-	3	795	c.483C>A	c.(481-483)gaC>gaA	p.D161E	COL11A1_ENST00000353414.4_Missense_Mutation_p.D161E|COL11A1_ENST00000358392.2_Missense_Mutation_p.D161E|COL11A1_ENST00000512756.1_Missense_Mutation_p.D161E	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	161	Laminin G-like.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)	p.D161E(2)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CTTACTTCCCGTCAGCGATGT	0.363																																							uc001dul.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12						c.(481-483)GAC>GAA		alpha 1 type XI collagen isoform A							75.0	79.0	78.0					1																	103544219		2203	4300	6503	SO:0001583	missense	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103544219G>T	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.483C>A	1.37:g.103544219G>T	ENSP00000359114:p.Asp161Glu					COL11A1_uc001dum.2_Missense_Mutation_p.D161E|COL11A1_uc001dun.2_Missense_Mutation_p.D161E|COL11A1_uc009weh.2_Missense_Mutation_p.D161E	p.D161E	NM_001854	NP_001845	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	3	801	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	161			TSP N-terminal.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	c.483C>A	CCDS778.1	.	.	.	.	.	.	.	.	.	.	A	15.38	2.815146	0.50527	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000512756;ENST00000427239;ENST00000447608	D;D;D;D;D;D	0.85411	-1.98;-1.98;-1.98;-1.98;-1.98;-1.98	5.52	4.39	0.52855	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);Laminin G, thrombospondin-type, N-terminal (1);Laminin G, subdomain 2 (1);	0.000000	0.85682	D	0.000000	D	0.92420	0.7594	H	0.95224	3.64	0.49798	D	0.999826	D;D;D;D	0.76494	0.997;0.996;0.999;0.999	D;D;D;D	0.85130	0.995;0.992;0.995;0.997	D	0.92603	0.6093	10	0.87932	D	0	.	10.1088	0.42550	0.8634:0.0:0.1366:0.0	.	161;161;161;161	E9PCU0;P12107-3;P12107-2;P12107	.;.;.;COBA1_HUMAN	E	161;161;161;161;161;88	ENSP00000359114:D161E;ENSP00000351163:D161E;ENSP00000302551:D161E;ENSP00000426533:D161E;ENSP00000408640:D161E;ENSP00000410177:D88E	ENSP00000302551:D161E	D	-	3	2	COL11A1	103316807	1.000000	0.71417	0.999000	0.59377	0.827000	0.46813	1.644000	0.37228	0.387000	0.25024	-0.269000	0.10298	GAC		0.363	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		7	39	1	0	2.0095e-06	0.001984	2.43619e-06	7	39				
NTNG1	22854	broad.mit.edu	37	1	107973450	107973450	+	Missense_Mutation	SNP	A	A	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr1:107973450A>T	ENST00000370068.1	+	6	2012	c.1166A>T	c.(1165-1167)cAc>cTc	p.H389L	NTNG1_ENST00000370072.3_Missense_Mutation_p.H389L|NTNG1_ENST00000370065.1_Missense_Mutation_p.H389L|NTNG1_ENST00000370074.4_Intron|NTNG1_ENST00000370067.1_Intron|NTNG1_ENST00000370070.2_Intron|NTNG1_ENST00000370061.3_Intron|NTNG1_ENST00000542803.1_Missense_Mutation_p.H389L|NTNG1_ENST00000370066.1_Intron|NTNG1_ENST00000370073.2_Missense_Mutation_p.H389L|NTNG1_ENST00000370071.2_Intron			Q9Y2I2	NTNG1_HUMAN	netrin G1	389	Laminin EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axonogenesis (GO:0007409)	anchored component of plasma membrane (GO:0046658)		p.H389P(2)|p.H389L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		AGCTGTAAACACAACACTAGA	0.453																																							uc001dvh.3		NA																	3	Substitution - Missense(3)		lung(3)	large_intestine(2)|ovary(2)|skin(2)	6						c.(1165-1167)CAC>CTC		netrin G1 isoform 1							122.0	105.0	110.0					1																	107973450		1568	3582	5150	SO:0001583	missense	22854				axonogenesis	anchored to plasma membrane	protein binding	g.chr1:107973450A>T	AB023193	CCDS30785.1, CCDS44179.1, CCDS44180.1	1p13.2-p13.1	2013-03-01			ENSG00000162631	ENSG00000162631		"""Netrins"""	23319	protein-coding gene	gene with protein product	"""netrin G1f"", ""Netrin-G1"""	608818				10964959	Standard	NM_001113226		Approved	KIAA0976, Lmnt1	uc001dvh.4	Q9Y2I2	OTTHUMG00000010965	ENST00000370068.1:c.1166A>T	1.37:g.107973450A>T	ENSP00000359085:p.His389Leu					NTNG1_uc001dvf.3_Intron|NTNG1_uc010out.1_Intron|NTNG1_uc001dvc.3_Intron|NTNG1_uc001dvi.2_Intron|NTNG1_uc001dve.2_RNA|NTNG1_uc009wek.2_Intron|NTNG1_uc001dvg.2_Intron|NTNG1_uc009wem.2_Intron	p.H389L	NM_001113226	NP_001106697	Q9Y2I2	NTNG1_HUMAN		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)	6	1884	+		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)	389			Laminin EGF-like 2.		Q5VU86|Q5VU87|Q5VU89|Q5VU90|Q5VU91|Q7Z2Y3|Q8N633	Missense_Mutation	SNP	ENST00000370068.1	37	c.1166A>T	CCDS44180.1	.	.	.	.	.	.	.	.	.	.	A	25.1	4.599879	0.87055	.	.	ENSG00000162631	ENST00000370073;ENST00000542803;ENST00000370072;ENST00000370064;ENST00000370068;ENST00000370065	T;T;T;T;T	0.65732	0.06;0.06;-0.17;0.06;-0.17	5.58	5.58	0.84498	EGF-like, laminin (4);	0.000000	0.64402	D	0.000007	T	0.66218	0.2767	H	0.95917	3.74	0.80722	D	1	B	0.13145	0.007	B	0.17433	0.018	T	0.71203	-0.4662	10	0.45353	T	0.12	.	15.7516	0.77989	1.0:0.0:0.0:0.0	.	389	Q9Y2I2	NTNG1_HUMAN	L	389;389;389;192;389;389	ENSP00000359090:H389L;ENSP00000440561:H389L;ENSP00000359089:H389L;ENSP00000359085:H389L;ENSP00000359082:H389L	ENSP00000359081:H192L	H	+	2	0	NTNG1	107774973	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.332000	0.96446	2.126000	0.65437	0.533000	0.62120	CAC		0.453	NTNG1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000030340.1	NM_014917		3	27	0	0	0	0.009096	0	3	27				
VAV3	10451	broad.mit.edu	37	1	108303503	108303503	+	Splice_Site	SNP	T	T	A	rs565773939		TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr1:108303503T>A	ENST00000370056.4	-	10	1196		c.e10-2		VAV3_ENST00000343258.4_Splice_Site|VAV3_ENST00000371846.4_Splice_Site|VAV3_ENST00000527011.1_Splice_Site	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor						angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cellular response to DNA damage stimulus (GO:0006974)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell adhesion (GO:0045785)|positive regulation of GTPase activity (GO:0043547)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of signal transduction (GO:0009967)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to drug (GO:0042493)|small GTPase mediated signal transduction (GO:0007264)|vesicle fusion (GO:0006906)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|SH3/SH2 adaptor activity (GO:0005070)	p.?(1)		NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		GGAACATTCCTAATGAAATGT	0.363																																							uc001dvk.1		NA																	1	Unknown(1)		lung(1)	ovary(5)|lung(2)|breast(2)	9						c.e10-1		vav 3 guanine nucleotide exchange factor isoform							61.0	52.0	55.0					1																	108303503		2203	4299	6502	SO:0001630	splice_region_variant	10451				angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity	g.chr1:108303503T>A	AF118886	CCDS785.1, CCDS44181.1	1p13.3	2013-02-14	2007-07-25		ENSG00000134215	ENSG00000134215		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	12659	protein-coding gene	gene with protein product		605541	"""vav 3 oncogene"""				Standard	NM_001079874		Approved		uc001dvk.1	Q9UKW4	OTTHUMG00000010995	ENST00000370056.4:c.922-2A>T	1.37:g.108303503T>A						VAV3_uc010ouw.1_Splice_Site_p.E308_splice|VAV3_uc001dvl.1_Splice_Site_p.E132_splice|VAV3_uc010oux.1_Splice_Site_p.E308_splice	p.E308_splice	NM_006113	NP_006104	Q9UKW4	VAV3_HUMAN		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)	10	976	-		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)						B1AMM0|B1APV5|B4E232|B7ZLR1|E9PQ97|O60498|O95230|Q9Y5X8	Splice_Site	SNP	ENST00000370056.4	37	c.922_splice	CCDS785.1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.308856	0.81247	.	.	ENSG00000134215	ENST00000370056;ENST00000527011;ENST00000490388;ENST00000371846	.	.	.	5.66	5.66	0.87406	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.898	0.79350	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	VAV3	108105026	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	7.650000	0.83521	2.152000	0.67230	0.528000	0.53228	.		0.363	VAV3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030242.2	NM_006113	Intron	5	19	0	0	0	0.000602	0	5	19				
SLC25A24	29957	broad.mit.edu	37	1	108681711	108681711	+	Silent	SNP	C	C	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr1:108681711C>T	ENST00000565488.1	-	9	1437	c.1218G>A	c.(1216-1218)ttG>ttA	p.L406L	SLC25A24_ENST00000370041.4_Silent_p.L387L	NM_013386.4	NP_037518.3	Q6NUK1	SCMC1_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 24	406					ATP transport (GO:0015867)|cellular response to calcium ion (GO:0071277)|cellular response to oxidative stress (GO:0034599)|mitochondrial transport (GO:0006839)|regulation of cell death (GO:0010941)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP transmembrane transporter activity (GO:0005347)|calcium ion binding (GO:0005509)	p.L387L(1)|p.L406L(1)		endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	16		all_epithelial(167;3.72e-05)|all_lung(203;0.000567)|Lung NSC(277;0.0011)|Melanoma(281;0.211)		Colorectal(144;0.0345)|Lung(183;0.0971)|COAD - Colon adenocarcinoma(174;0.127)|Epithelial(280;0.134)		TCACCAAAGCCAATGGGTAGC	0.473																																							uc001dvn.3		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(1216-1218)TTG>TTA		solute carrier family 25 member 24 isoform 1							74.0	72.0	73.0					1																	108681711		2203	4300	6503	SO:0001819	synonymous_variant	29957				transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding	g.chr1:108681711C>T	AJ619961	CCDS786.1, CCDS41361.1	1p13.2	2013-05-22			ENSG00000085491	ENSG00000085491		"""Solute carriers"", ""EF-hand domain containing"""	20662	protein-coding gene	gene with protein product		608744				15123600	Standard	NM_013386		Approved	DKFZp586G0123, APC1	uc001dvn.5	Q6NUK1	OTTHUMG00000011013	ENST00000565488.1:c.1218G>A	1.37:g.108681711C>T						SLC25A24_uc001dvm.2_Silent_p.L387L	p.L406L	NM_013386	NP_037518	Q6NUK1	SCMC1_HUMAN		Colorectal(144;0.0345)|Lung(183;0.0971)|COAD - Colon adenocarcinoma(174;0.127)|Epithelial(280;0.134)	9	1432	-		all_epithelial(167;3.72e-05)|all_lung(203;0.000567)|Lung NSC(277;0.0011)|Melanoma(281;0.211)	406			Solcar 3.|Helical; Name=5; (Potential).		B7ZAI9|Q5T331|Q5T485|Q6PJJ9|Q705K4|Q9P129	Silent	SNP	ENST00000565488.1	37	c.1218G>A	CCDS41361.1																																																																																				0.473	SLC25A24-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000030280.2	NM_013386		21	37	0	0	0	0.010504	0	21	37				
GNAI3	2773	broad.mit.edu	37	1	110134684	110134684	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr1:110134684G>T	ENST00000369851.4	+	8	1004	c.894G>T	c.(892-894)gaG>gaT	p.E298D	RNU6V_ENST00000384105.1_RNA	NM_006496.3	NP_006487.1	P08754	GNAI3_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3	298					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cell division (GO:0051301)|negative regulation of adenylate cyclase activity (GO:0007194)|platelet activation (GO:0030168)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vesicle fusion (GO:0006906)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane raft (GO:0045121)|midbody (GO:0030496)|plasma membrane (GO:0005886)|zymogen granule (GO:0042588)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled serotonin receptor binding (GO:0031821)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)	p.E298D(1)		NS(1)|endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.046)|Colorectal(144;0.119)|Epithelial(280;0.139)|all cancers(265;0.147)|LUSC - Lung squamous cell carcinoma(189;0.237)		CATATGAAGAGGCAGCTGCCT	0.413																																							uc001dxz.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(892-894)GAG>GAT		guanine nucleotide binding protein (G protein),							84.0	77.0	80.0					1																	110134684		2203	4300	6503	SO:0001583	missense	2773				cell cycle|cell division|inhibition of adenylate cyclase activity by G-protein signaling pathway|platelet activation|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity	g.chr1:110134684G>T	M27543	CCDS802.1	1p13	2012-10-02			ENSG00000065135	ENSG00000065135			4387	protein-coding gene	gene with protein product		139370				3109953	Standard	NM_006496		Approved	87U6	uc001dxz.3	P08754	OTTHUMG00000011648	ENST00000369851.4:c.894G>T	1.37:g.110134684G>T	ENSP00000358867:p.Glu298Asp						p.E298D	NM_006496	NP_006487	P08754	GNAI3_HUMAN		Lung(183;0.046)|Colorectal(144;0.119)|Epithelial(280;0.139)|all cancers(265;0.147)|LUSC - Lung squamous cell carcinoma(189;0.237)	8	1051	+		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)	298					P17539|Q5TZX1	Missense_Mutation	SNP	ENST00000369851.4	37	c.894G>T	CCDS802.1	.	.	.	.	.	.	.	.	.	.	G	7.580	0.668548	0.14776	.	.	ENSG00000065135	ENST00000369851	D	0.88818	-2.43	5.78	1.57	0.23409	.	0.000000	0.85682	D	0.000000	T	0.66973	0.2844	N	0.25825	0.765	0.58432	D	0.999999	B	0.10296	0.003	B	0.21360	0.034	T	0.55088	-0.8195	10	0.21014	T	0.42	.	9.4338	0.38626	0.4697:0.0:0.5303:0.0	.	298	P08754	GNAI3_HUMAN	D	298	ENSP00000358867:E298D	ENSP00000358867:E298D	E	+	3	2	GNAI3	109936207	1.000000	0.71417	0.999000	0.59377	0.978000	0.69477	1.254000	0.32897	0.077000	0.16863	-0.218000	0.12543	GAG		0.413	GNAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032222.1	NM_006496		11	44	1	0	9.70103e-10	0.008291	1.33259e-09	11	44				
GNAI3	2773	broad.mit.edu	37	1	110134687	110134687	+	Silent	SNP	A	A	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr1:110134687A>T	ENST00000369851.4	+	8	1007	c.897A>T	c.(895-897)gcA>gcT	p.A299A	RNU6V_ENST00000384105.1_RNA	NM_006496.3	NP_006487.1	P08754	GNAI3_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3	299					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cell division (GO:0051301)|negative regulation of adenylate cyclase activity (GO:0007194)|platelet activation (GO:0030168)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vesicle fusion (GO:0006906)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane raft (GO:0045121)|midbody (GO:0030496)|plasma membrane (GO:0005886)|zymogen granule (GO:0042588)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled serotonin receptor binding (GO:0031821)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)	p.A299A(1)		NS(1)|endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.046)|Colorectal(144;0.119)|Epithelial(280;0.139)|all cancers(265;0.147)|LUSC - Lung squamous cell carcinoma(189;0.237)		ATGAAGAGGCAGCTGCCTATA	0.418																																							uc001dxz.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(895-897)GCA>GCT		guanine nucleotide binding protein (G protein),							86.0	79.0	81.0					1																	110134687		2203	4300	6503	SO:0001819	synonymous_variant	2773				cell cycle|cell division|inhibition of adenylate cyclase activity by G-protein signaling pathway|platelet activation|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity	g.chr1:110134687A>T	M27543	CCDS802.1	1p13	2012-10-02			ENSG00000065135	ENSG00000065135			4387	protein-coding gene	gene with protein product		139370				3109953	Standard	NM_006496		Approved	87U6	uc001dxz.3	P08754	OTTHUMG00000011648	ENST00000369851.4:c.897A>T	1.37:g.110134687A>T							p.A299A	NM_006496	NP_006487	P08754	GNAI3_HUMAN		Lung(183;0.046)|Colorectal(144;0.119)|Epithelial(280;0.139)|all cancers(265;0.147)|LUSC - Lung squamous cell carcinoma(189;0.237)	8	1054	+		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)	299					P17539|Q5TZX1	Silent	SNP	ENST00000369851.4	37	c.897A>T	CCDS802.1																																																																																				0.418	GNAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032222.1	NM_006496		11	44	0	0	0	0.008291	0	11	44				
IGSF3	3321	broad.mit.edu	37	1	117122426	117122426	+	Silent	SNP	A	A	G			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr1:117122426A>G	ENST00000369486.3	-	10	3687	c.2922T>C	c.(2920-2922)tgT>tgC	p.C974C	IGSF3_ENST00000318837.6_Silent_p.C994C|IGSF3_ENST00000369483.1_Silent_p.C994C	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	974	Ig-like C2-type 8.				lacrimal gland development (GO:0032808)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)		p.C974C(1)|p.C994C(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		ACACGATGCTACAGTCCAGCT	0.602																																							uc001egr.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(2)	2						c.(2920-2922)TGT>TGC		immunoglobulin superfamily, member 3 isoform 2							37.0	34.0	35.0					1																	117122426		2203	4300	6503	SO:0001819	synonymous_variant	3321					integral to membrane		g.chr1:117122426A>G	AF031174	CCDS30813.1, CCDS30814.1	1p13	2013-01-29			ENSG00000143061	ENSG00000143061		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5950	protein-coding gene	gene with protein product		603491				9790749	Standard	NM_001007237		Approved	V8, EWI-3, MGC117164	uc031pnr.1	O75054	OTTHUMG00000022751	ENST00000369486.3:c.2922T>C	1.37:g.117122426A>G						IGSF3_uc001egq.1_Silent_p.C994C	p.C974C	NM_001007237	NP_001007238	O75054	IGSF3_HUMAN		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)	10	3627	-	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)	974			Ig-like C2-type 8.|Extracellular (Potential).		A6NJZ6|A6NMC7	Silent	SNP	ENST00000369486.3	37	c.2922T>C	CCDS30813.1																																																																																				0.602	IGSF3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000059040.1	NM_001542		12	24	0	0	0	0.001368	0	12	24				
Unknown	0	broad.mit.edu	37	1	144619896	144619896	+	IGR	SNP	G	G	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr1:144619896G>A								RP11-640M9.2 (14005 upstream) : NBPF9 (191847 downstream)																							GGTGCAGAAGGCTGAAGTGAG	0.527																																							uc009wig.1		NA																	0					0						c.(580-582)GCT>ACT		hypothetical protein LOC400818																																				SO:0001628	intergenic_variant	400818					cytoplasm		g.chr1:144619896G>A																													1.37:g.144619896G>A						NBPF9_uc010oxn.1_Intron|NBPF9_uc010oxo.1_Missense_Mutation_p.A194T|NBPF9_uc010oxr.1_Intron|NBPF9_uc010oxt.1_Intron|NBPF9_uc001ekg.1_Intron|NBPF9_uc001ekk.1_Intron|NBPF10_uc009wir.2_Intron|NBPF9_uc010oyd.1_Intron|NBPF9_uc010oye.1_Missense_Mutation_p.A125T|NBPF9_uc001eli.3_RNA|NBPF9_uc010oyf.1_Missense_Mutation_p.A125T|NBPF9_uc010oyg.1_Missense_Mutation_p.A159T|NBPF9_uc009wii.1_5'UTR	p.A194T	NM_001037675	NP_001032764	Q3BBV1	NBPFK_HUMAN			8	656	+			194			NBPF 1.			Missense_Mutation	SNP		37	c.580G>A																																																																																				0	0.527									3	22	0	0	0	0.004672	0	3	22				
S100A5	6276	broad.mit.edu	37	1	153512581	153512581	+	Silent	SNP	C	C	G			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr1:153512581C>G	ENST00000368718.1	-	3	368	c.87G>C	c.(85-87)ctG>ctC	p.L29L	S100A5_ENST00000359215.1_Silent_p.L47L|S100A5_ENST00000368717.2_Silent_p.L29L	NM_002962.1	NP_002953.2	P33763	S10A5_HUMAN	S100 calcium binding protein A5	29	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.					neuronal cell body (GO:0043025)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|copper ion binding (GO:0005507)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)	p.L47L(1)		endometrium(1)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	4	all_lung(78;5.98e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			CCTTCCTACTCAGGGTCAGTT	0.522																																							uc001fbx.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(139-141)CTG>CTC		S100 calcium binding protein A5							259.0	195.0	217.0					1																	153512581		2203	4300	6503	SO:0001819	synonymous_variant	6276					nucleus	calcium ion binding|copper ion binding|protein homodimerization activity|zinc ion binding	g.chr1:153512581C>G	Z18954	CCDS1041.1, CCDS1041.2	1q21	2013-01-10	2001-11-28		ENSG00000196420	ENSG00000196420		"""S100 calcium binding proteins"", ""EF-hand domain containing"""	10495	protein-coding gene	gene with protein product		176991	"""S100 calcium-binding protein A5"""	S100D		8341667	Standard	NM_002962		Approved		uc001fbx.3	P33763	OTTHUMG00000013547	ENST00000368718.1:c.87G>C	1.37:g.153512581C>G							p.L47L	NM_002962	NP_002953	P33763	S10A5_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		3	369	-	all_lung(78;5.98e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		29			1; low affinity (Potential).|EF-hand 1.		Q52LE7|Q5RHS3	Silent	SNP	ENST00000368718.1	37	c.141G>C	CCDS1041.2																																																																																				0.522	S100A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000037719.1	NM_002962		17	116	0	0	0	0.006122	0	17	116				
FLAD1	80308	broad.mit.edu	37	1	154962050	154962050	+	Missense_Mutation	SNP	A	A	G			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr1:154962050A>G	ENST00000292180.3	+	3	1454	c.1132A>G	c.(1132-1134)Aaa>Gaa	p.K378E	FLAD1_ENST00000295530.2_Intron|FLAD1_ENST00000368428.1_5'UTR|FLAD1_ENST00000368433.1_Missense_Mutation_p.K378E|FLAD1_ENST00000368432.1_Missense_Mutation_p.K281E|FLAD1_ENST00000315144.10_Missense_Mutation_p.K281E|FLAD1_ENST00000405236.2_Intron	NM_025207.4	NP_079483.3	Q8NFF5	FAD1_HUMAN	flavin adenine dinucleotide synthetase 1	378					FAD biosynthetic process (GO:0006747)|Mo-molybdopterin cofactor biosynthetic process (GO:0006777)|riboflavin metabolic process (GO:0006771)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|FMN adenylyltransferase activity (GO:0003919)	p.K378E(3)		endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|ovary(3)|skin(3)	22	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			TTCTTTGGGGAAAAAGGTGGC	0.567																																							uc001fgf.1		NA																	3	Substitution - Missense(3)		large_intestine(1)|lung(1)|endometrium(1)	ovary(2)|skin(1)	3						c.(1132-1134)AAA>GAA		flavin adenine dinucleotide synthetase isoform							92.0	91.0	92.0					1																	154962050		2203	4300	6503	SO:0001583	missense	80308				FAD biosynthetic process|Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|FMN adenylyltransferase activity	g.chr1:154962050A>G		CCDS1078.1, CCDS1079.1, CCDS53371.1, CCDS53372.1	1q22	2013-03-05	2013-03-05		ENSG00000160688	ENSG00000160688	2.7.7.2		24671	protein-coding gene	gene with protein product		610595	"""Fad1, flavin adenine dinucleotide synthetase, homolog (yeast)"", ""FAD1 flavin adenine dinucleotide synthetase homolog (S. cerevisiae)"", ""flavin adenine dinucleotide synthetase"""				Standard	NM_001184891		Approved	PP591, FAD1	uc001fgf.2	Q8NFF5	OTTHUMG00000037416	ENST00000292180.3:c.1132A>G	1.37:g.154962050A>G	ENSP00000292180:p.Lys378Glu					FLAD1_uc001fgd.1_Missense_Mutation_p.K378E|FLAD1_uc001fge.1_Missense_Mutation_p.K281E|FLAD1_uc001fgg.1_Missense_Mutation_p.K281E|FLAD1_uc001fgh.1_Intron	p.K378E	NM_025207	NP_079483	Q8NFF5	FAD1_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)		3	1486	+	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		378					Q8N5J1|Q8N686|Q8WU93|Q8WUJ4|Q96CR8|Q99764|Q9HBN6	Missense_Mutation	SNP	ENST00000292180.3	37	c.1132A>G	CCDS1078.1	.	.	.	.	.	.	.	.	.	.	A	1.104	-0.660206	0.03454	.	.	ENSG00000160688	ENST00000368433;ENST00000315144;ENST00000368432;ENST00000292180	.	.	.	5.31	-5.81	0.02340	Rossmann-like alpha/beta/alpha sandwich fold (1);	0.847275	0.10907	N	0.620948	T	0.03695	0.0105	N	0.03948	-0.315	0.20196	N	0.999928	B	0.02656	0.0	B	0.04013	0.001	T	0.43261	-0.9402	9	0.12766	T	0.61	4.4652	10.7693	0.46312	0.4491:0.1689:0.382:0.0	.	378	Q8NFF5	FAD1_HUMAN	E	378;281;281;378	.	ENSP00000292180:K378E	K	+	1	0	FLAD1	153228674	0.001000	0.12720	0.002000	0.10522	0.948000	0.59901	0.337000	0.19841	-1.281000	0.02399	-1.937000	0.00501	AAA		0.567	FLAD1-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000091089.1	NM_025207		5	102	0	0	0	0.001168	0	5	102				
INSRR	3645	broad.mit.edu	37	1	156812857	156812857	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr1:156812857C>T	ENST00000368195.3	-	17	3461	c.3065G>A	c.(3064-3066)cGg>cAg	p.R1022Q	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	1022	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton reorganization (GO:0031532)|cellular response to alkaline pH (GO:0071469)|male sex determination (GO:0030238)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.R1022Q(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					AATGCATTCCCGTGGGCTGGC	0.537																																							uc010pht.1		NA																	1	Substitution - Missense(1)		lung(1)	lung(11)|ovary(5)|skin(2)|kidney(1)|central_nervous_system(1)	20						c.(3064-3066)CGG>CAG		insulin receptor-related receptor precursor							75.0	74.0	74.0					1																	156812857		2203	4300	6503	SO:0001583	missense	3645				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:156812857C>T	J05046	CCDS1160.1	1q21-q23	2013-02-11			ENSG00000027644	ENSG00000027644		"""Fibronectin type III domain containing"""	6093	protein-coding gene	gene with protein product		147671				2768234, 2249481	Standard	NM_014215		Approved	IRR	uc010pht.2	P14616	OTTHUMG00000041291	ENST00000368195.3:c.3065G>A	1.37:g.156812857C>T	ENSP00000357178:p.Arg1022Gln					NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron	p.R1022Q	NM_014215	NP_055030	P14616	INSRR_HUMAN			17	3319	-	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		1022			Cytoplasmic (Potential).|Protein kinase.		O60724|Q5VZS3	Missense_Mutation	SNP	ENST00000368195.3	37	c.3065G>A	CCDS1160.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.550535	0.86127	.	.	ENSG00000027644	ENST00000368195	D	0.82255	-1.59	5.13	4.22	0.49857	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.43416	D	0.000575	T	0.62454	0.2429	.	.	.	0.47441	D	0.999422	P	0.35328	0.495	B	0.16289	0.015	T	0.70831	-0.4765	9	0.87932	D	0	.	12.3135	0.54942	0.0:0.9177:0.0:0.0823	.	1022	P14616	INSRR_HUMAN	Q	1022	ENSP00000357178:R1022Q	ENSP00000357178:R1022Q	R	-	2	0	INSRR	155079481	1.000000	0.71417	0.998000	0.56505	0.913000	0.54294	7.651000	0.83577	1.389000	0.46526	0.655000	0.94253	CGG		0.537	INSRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098929.1	NM_014215		31	38	0	0	0	0.002445	0	31	38				
FCER1A	2205	broad.mit.edu	37	1	159277583	159277583	+	Missense_Mutation	SNP	T	T	C	rs535656043		TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr1:159277583T>C	ENST00000368115.1	+	6	734	c.635T>C	c.(634-636)gTg>gCg	p.V212A	FCER1A_ENST00000368114.1_Missense_Mutation_p.V179A	NM_002001.3	NP_001992.1	P12319	FCERA_HUMAN	Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide	212					activation of JUN kinase activity (GO:0007257)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|leukotriene biosynthetic process (GO:0019370)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process (GO:0045425)|positive regulation of interleukin-3 biosynthetic process (GO:0045401)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of type I hypersensitivity (GO:0001812)|serotonin secretion (GO:0001820)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	IgE receptor activity (GO:0019767)	p.V212A(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_hematologic(112;0.0429)				Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)	CCATTGTTGGTGGTGATTCTG	0.408																																							uc001ftq.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(2)|skin(2)|prostate(1)	5						c.(634-636)GTG>GCG		Fc fragment of IgE, high affinity I, receptor	Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)						129.0	117.0	121.0					1																	159277583		2203	4300	6503	SO:0001583	missense	2205					integral to plasma membrane		g.chr1:159277583T>C	BC015195	CCDS1184.1	1q23	2013-01-11			ENSG00000179639	ENSG00000179639		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3609	protein-coding gene	gene with protein product		147140		FCE1A		8245459	Standard	NM_002001		Approved		uc001ftq.3	P12319	OTTHUMG00000037176	ENST00000368115.1:c.635T>C	1.37:g.159277583T>C	ENSP00000357097:p.Val212Ala						p.V212A	NM_002001	NP_001992	P12319	FCERA_HUMAN			6	734	+	all_hematologic(112;0.0429)		212			Helical; (Potential).			Missense_Mutation	SNP	ENST00000368115.1	37	c.635T>C	CCDS1184.1	.	.	.	.	.	.	.	.	.	.	T	9.197	1.027423	0.19512	.	.	ENSG00000179639	ENST00000368115;ENST00000368114	T;T	0.02236	4.8;4.38	5.37	2.96	0.34315	.	1.532230	0.04331	N	0.352290	T	0.01222	0.0040	L	0.43152	1.355	0.28960	N	0.889883	D	0.53312	0.959	B	0.43623	0.425	T	0.48007	-0.9072	10	0.42905	T	0.14	.	7.2648	0.26224	0.0:0.178:0.0:0.822	.	212	P12319	FCERA_HUMAN	A	212;179	ENSP00000357097:V212A;ENSP00000357096:V179A	ENSP00000357096:V179A	V	+	2	0	FCER1A	157544207	0.987000	0.35691	0.872000	0.34217	0.061000	0.15899	1.132000	0.31418	1.012000	0.39366	0.528000	0.53228	GTG		0.408	FCER1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090328.2	NM_002001		22	104	0	0	0	0.005443	0	22	104				
LRRC52	440699	broad.mit.edu	37	1	165532835	165532835	+	Missense_Mutation	SNP	A	A	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr1:165532835A>T	ENST00000294818.1	+	2	1006	c.716A>T	c.(715-717)cAc>cTc	p.H239L	RP11-280O1.2_ENST00000438275.1_RNA|RP11-280O1.2_ENST00000421273.1_RNA|RP11-280O1.2_ENST00000416424.1_RNA	NM_001005214.3	NP_001005214.2	Q8N7C0	LRC52_HUMAN	leucine rich repeat containing 52	239					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.H239L(1)		NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)	18	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)					TGCATCACGCACCTGGACCAC	0.572																																							uc001gde.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(715-717)CAC>CTC		leucine rich repeat containing 52 precursor							79.0	61.0	67.0					1																	165532835		2203	4300	6503	SO:0001583	missense	440699					integral to membrane		g.chr1:165532835A>T	AK098677	CCDS30930.1	1q23.3	2008-02-05			ENSG00000162763	ENSG00000162763			32156	protein-coding gene	gene with protein product		615218					Standard	NM_001005214		Approved	FLJ25811	uc001gde.2	Q8N7C0	OTTHUMG00000034625	ENST00000294818.1:c.716A>T	1.37:g.165532835A>T	ENSP00000294818:p.His239Leu					LOC400794_uc001gdc.2_Intron|LOC400794_uc001gdd.2_Intron|LOC400794_uc009wvd.2_Intron	p.H239L	NM_001005214	NP_001005214	Q8N7C0	LRC52_HUMAN			2	772	+	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)		239			Extracellular (Potential).		A2RUN7|Q5T9K5	Missense_Mutation	SNP	ENST00000294818.1	37	c.716A>T	CCDS30930.1	.	.	.	.	.	.	.	.	.	.	A	11.91	1.781008	0.31502	.	.	ENSG00000162763	ENST00000294818	T	0.64260	-0.09	4.22	4.22	0.49857	.	0.510863	0.23305	N	0.049638	T	0.39809	0.1092	L	0.60455	1.87	0.33002	D	0.526337	B	0.18610	0.029	B	0.14023	0.01	T	0.40850	-0.9541	9	0.39692	T	0.17	.	10.0002	0.41924	1.0:0.0:0.0:0.0	.	239	Q8N7C0	LRC52_HUMAN	L	239	ENSP00000294818:H239L	ENSP00000294818:H239L	H	+	2	0	LRRC52	163799459	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	3.207000	0.51106	1.667000	0.50832	0.533000	0.62120	CAC		0.572	LRRC52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083793.1	NM_001005214		12	23	0	0	0	0.001368	0	12	23				
FMO4	2329	broad.mit.edu	37	1	171306562	171306562	+	Silent	SNP	A	A	G			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr1:171306562A>G	ENST00000367749.3	+	9	1578	c.1248A>G	c.(1246-1248)aaA>aaG	p.K416K		NM_002022.1	NP_002013.1	P31512	FMO4_HUMAN	flavin containing monooxygenase 4	416					drug catabolic process (GO:0042737)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)	p.K416K(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					AGCTCATTAAAAGGTATGAAA	0.378																																					Pancreas(24;816 862 7754 7993 32832)	Pancreas(24;816 862 7754 7993 32832)	uc001gho.2		NA																	1	Substitution - coding silent(1)		lung(1)	kidney(2)|skin(1)	3						c.(1246-1248)AAA>AAG		flavin containing monooxygenase 4							102.0	96.0	98.0					1																	171306562		2203	4300	6503	SO:0001819	synonymous_variant	2329				xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding	g.chr1:171306562A>G	BC002780	CCDS1295.1	1q24.3	2011-08-04			ENSG00000076258	ENSG00000076258	1.14.13.8		3772	protein-coding gene	gene with protein product		136131		FMO2		8311461	Standard	NM_002022		Approved		uc001gho.3	P31512	OTTHUMG00000035506	ENST00000367749.3:c.1248A>G	1.37:g.171306562A>G						TOP1P1_uc010pmf.1_5'Flank	p.K416K	NM_002022	NP_002013	P31512	FMO4_HUMAN			9	1465	+	all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)		416					Q53XR0	Silent	SNP	ENST00000367749.3	37	c.1248A>G	CCDS1295.1																																																																																				0.378	FMO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086223.1	NM_002022		20	44	0	0	0	0.008871	0	20	44				
GPR52	9293	broad.mit.edu	37	1	174417343	174417343	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr1:174417343G>T	ENST00000367685.2	+	1	132	c.94G>T	c.(94-96)Ggc>Tgc	p.G32C	RABGAP1L_ENST00000251507.4_Intron|RABGAP1L_ENST00000367689.3_Intron|RABGAP1L_ENST00000357444.6_Intron	NM_005684.4	NP_005675.3	Q9Y2T5	GPR52_HUMAN	G protein-coupled receptor 52	32					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)	p.G32C(1)		breast(3)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|prostate(1)|skin(2)	20						ACTTGGATTTGGCCACTACAG	0.473																																					Ovarian(92;924 1390 1930 16467 40583)	Ovarian(92;924 1390 1930 16467 40583)	uc001gka.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(94-96)GGC>TGC		G protein-coupled receptor 52							216.0	179.0	192.0					1																	174417343		2203	4300	6503	SO:0001583	missense	9293					integral to plasma membrane	G-protein coupled receptor activity	g.chr1:174417343G>T	AF096784	CCDS30941.1	1q24	2012-08-21			ENSG00000203737	ENSG00000203737		"""GPCR / Class A : Orphans"""	4508	protein-coding gene	gene with protein product		604106				9931487	Standard	NM_005684		Approved		uc001gka.1	Q9Y2T5	OTTHUMG00000034901	ENST00000367685.2:c.94G>T	1.37:g.174417343G>T	ENSP00000356658:p.Gly32Cys					RABGAP1L_uc001gjw.2_Intron|RABGAP1L_uc001gjx.2_Intron|RABGAP1L_uc001gjy.2_Intron|RABGAP1L_uc001gjz.2_Intron	p.G32C	NM_005684	NP_005675	Q9Y2T5	GPR52_HUMAN			1	132	+			32			Extracellular (Potential).		O75654|Q4VBL6|Q6ISM0	Missense_Mutation	SNP	ENST00000367685.2	37	c.94G>T	CCDS30941.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.014938	0.75161	.	.	ENSG00000203737	ENST00000367685	T	0.45668	0.89	5.68	5.68	0.88126	.	0.000000	0.64402	D	0.000003	T	0.52725	0.1752	L	0.27053	0.805	0.58432	D	0.999994	D	0.76494	0.999	D	0.64042	0.921	T	0.54827	-0.8235	10	0.66056	D	0.02	-10.7627	19.8158	0.96568	0.0:0.0:1.0:0.0	.	32	Q9Y2T5	GPR52_HUMAN	C	32	ENSP00000356658:G32C	ENSP00000356658:G32C	G	+	1	0	GPR52	172683966	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.340000	0.97038	2.680000	0.91292	0.655000	0.94253	GGC		0.473	GPR52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084511.1	NM_005684		10	52	1	0	2.17888e-05	0.006214	2.54784e-05	10	52				
RFWD2	64326	broad.mit.edu	37	1	175956124	175956124	+	Silent	SNP	T	T	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr1:175956124T>A	ENST00000367669.3	-	18	2602	c.2088A>T	c.(2086-2088)acA>acT	p.T696T	RFWD2_ENST00000308769.8_Silent_p.T672T	NM_022457.5	NP_071902.2	Q8NHY2	RFWD2_HUMAN	ring finger and WD repeat domain 2, E3 ubiquitin protein ligase	696					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|response to ionizing radiation (GO:0010212)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin protein ligase activity (GO:0061630)|zinc ion binding (GO:0008270)	p.T696T(1)		endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						CAAATTCATTTGTATCATCTT	0.363																																					Ovarian(134;1413 1765 5706 35534 51541)	Ovarian(134;1413 1765 5706 35534 51541)	uc001gku.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(2086-2088)ACA>ACT		ring finger and WD repeat domain 2 isoform a							117.0	107.0	110.0					1																	175956124		2203	4300	6503	SO:0001819	synonymous_variant	64326				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest	centrosome|cytosol|focal adhesion|nuclear speck	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:175956124T>A	AK001278	CCDS30944.1, CCDS44279.1	1q25.1-q25.2	2013-01-09	2012-02-23		ENSG00000143207	ENSG00000143207		"""WD repeat domain containing"", ""RING-type (C3HC4) zinc fingers"""	17440	protein-coding gene	gene with protein product		608067	"""ring finger and WD repeat domain 2"""			10395541	Standard	XM_005245447		Approved	FLJ10416, COP1, RNF200	uc001gku.1	Q8NHY2	OTTHUMG00000034986	ENST00000367669.3:c.2088A>T	1.37:g.175956124T>A						RFWD2_uc001gkv.1_Silent_p.T672T|RFWD2_uc001gkw.1_Silent_p.T456T|RFWD2_uc009wwv.2_Silent_p.T495T|RFWD2_uc001gkt.1_Silent_p.T535T	p.T696T	NM_022457	NP_071902	Q8NHY2	RFWD2_HUMAN			18	2344	-			696			WD 7.		E9PKI0|Q504W6|Q6H103|Q9H6L7|X5D9B4	Silent	SNP	ENST00000367669.3	37	c.2088A>T	CCDS30944.1																																																																																				0.363	RFWD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084672.2	NM_022457		36	65	0	0	0	0.00874	0	36	65				
BRINP2	57795	broad.mit.edu	37	1	177250308	177250308	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr1:177250308C>A	ENST00000361539.4	+	8	2308	c.1996C>A	c.(1996-1998)Ctg>Atg	p.L666M	BRINP2_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	BRNP2_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 2	666					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	extracellular region (GO:0005576)		p.L666M(1)									CTATGAGCCCCTGGAGATGAC	0.468																																							uc001glf.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)|upper_aerodigestive_tract(1)	6						c.(1996-1998)CTG>ATG		family with sequence similarity 5, member B							69.0	66.0	67.0					1																	177250308		2203	4300	6503	SO:0001583	missense	57795					extracellular region		g.chr1:177250308C>A		CCDS1320.1	1q24	2013-08-06	2013-08-06	2013-07-31	ENSG00000198797	ENSG00000198797			13746	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member B"""	FAM5B		15193423	Standard	NM_021165		Approved	DBCCR1L2	uc001glf.3	Q9C0B6	OTTHUMG00000034953	ENST00000361539.4:c.1996C>A	1.37:g.177250308C>A	ENSP00000354481:p.Leu666Met					FAM5B_uc001glg.2_Missense_Mutation_p.L561M	p.L666M	NM_021165	NP_066988	Q9C0B6	FAM5B_HUMAN			8	2308	+			666					O95560|Q6ZWC1|Q7LCZ9|Q8N360	Missense_Mutation	SNP	ENST00000361539.4	37	c.1996C>A	CCDS1320.1	.	.	.	.	.	.	.	.	.	.	C	12.92	2.081342	0.36758	.	.	ENSG00000198797	ENST00000536589;ENST00000361539	T	0.19394	2.15	5.16	4.24	0.50183	.	0.080192	0.51477	D	0.000081	T	0.39886	0.1095	M	0.63843	1.955	0.45097	D	0.998117	D;D	0.89917	1.0;0.983	D;P	0.75484	0.986;0.742	T	0.19289	-1.0310	10	0.72032	D	0.01	-10.6083	8.945	0.35753	0.0:0.7808:0.0:0.2192	.	561;666	Q9C0B6-2;Q9C0B6	.;FAM5B_HUMAN	M	419;666	ENSP00000354481:L666M	ENSP00000354481:L666M	L	+	1	2	FAM5B	175516931	0.013000	0.17824	0.993000	0.49108	0.934000	0.57294	0.124000	0.15728	1.153000	0.42468	0.313000	0.20887	CTG		0.468	BRINP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084599.1	NM_021165		12	78	1	0	3.07112e-06	0.000978	3.68823e-06	12	78				
KIAA1614	57710	broad.mit.edu	37	1	180905361	180905361	+	Silent	SNP	C	C	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr1:180905361C>T	ENST00000367588.4	+	5	2371	c.2316C>T	c.(2314-2316)tcC>tcT	p.S772S	KIAA1614_ENST00000367587.1_Silent_p.S393S	NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN	KIAA1614	772								p.S772S(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						GCCACGAGTCCCTGGAAATTG	0.612																																							uc001gok.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(1)	4						c.(2314-2316)TCC>TCT		hypothetical protein LOC57710							87.0	93.0	91.0					1																	180905361		2069	4198	6267	SO:0001819	synonymous_variant	57710							g.chr1:180905361C>T	AB046834	CCDS41442.1	1q25.3	2008-02-05			ENSG00000135835	ENSG00000135835			29327	protein-coding gene	gene with protein product							Standard	NM_020950		Approved		uc001gok.2	Q5VZ46	OTTHUMG00000035183	ENST00000367588.4:c.2316C>T	1.37:g.180905361C>T						KIAA1614_uc001gol.1_Silent_p.S393S|KIAA1614_uc001gom.1_Intron	p.S772S	NM_020950	NP_066001	Q5VZ46	K1614_HUMAN			5	2383	+			772					Q5VZ45|Q9HCF8	Silent	SNP	ENST00000367588.4	37	c.2316C>T	CCDS41442.1																																																																																				0.612	KIAA1614-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085151.1	XM_046531		14	26	0	0	0	0.003163	0	14	26				
RNF2	6045	broad.mit.edu	37	1	185060780	185060780	+	Missense_Mutation	SNP	A	A	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr1:185060780A>T	ENST00000367510.3	+	3	445	c.157A>T	c.(157-159)Att>Ttt	p.I53F	RNF2_ENST00000367509.4_Missense_Mutation_p.I53F	NM_007212.3	NP_009143.1	Q99496	RING2_HUMAN	ring finger protein 2	53	Interaction with HIP2.				anterior/posterior axis specification (GO:0009948)|gastrulation with mouth forming second (GO:0001702)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K119 monoubiquitination (GO:0036353)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|MLL1 complex (GO:0071339)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|RING-like zinc finger domain binding (GO:0071535)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.I53F(1)		breast(3)|endometrium(2)|large_intestine(4)|lung(3)|skin(2)	14		Breast(1374;0.000496)		Colorectal(1306;6.9e-08)|KIRC - Kidney renal clear cell carcinoma(1967;8.12e-06)		AATGTGCCCAATTTGTTTGGA	0.383																																							uc001grc.1		NA																	1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(157-159)ATT>TTT		ring finger protein 2							191.0	175.0	181.0					1																	185060780		2203	4300	6503	SO:0001583	missense	6045				histone H2A monoubiquitination|transcription, DNA-dependent	MLL1 complex|PcG protein complex|ubiquitin ligase complex	RING-like zinc finger domain binding|zinc ion binding	g.chr1:185060780A>T	BC012583, Y10571	CCDS1365.1	1q25.3	2013-01-09			ENSG00000121481	ENSG00000121481		"""RING-type (C3HC4) zinc fingers"""	10061	protein-coding gene	gene with protein product		608985				11513855	Standard	XM_005245413		Approved	BAP-1, BAP1, DING, HIPI3, RING1B, RING2	uc001grc.1	Q99496	OTTHUMG00000035391	ENST00000367510.3:c.157A>T	1.37:g.185060780A>T	ENSP00000356480:p.Ile53Phe					RNF2_uc001grd.1_Missense_Mutation_p.I53F|RNF2_uc001gre.1_5'Flank	p.I53F	NM_007212	NP_009143	Q99496	RING2_HUMAN		Colorectal(1306;6.9e-08)|KIRC - Kidney renal clear cell carcinoma(1967;8.12e-06)	3	390	+		Breast(1374;0.000496)	53			Interaction with HIP2.|RING-type.		B2RBS7|B3KRH1|Q5TEN1|Q5TEN2	Missense_Mutation	SNP	ENST00000367510.3	37	c.157A>T	CCDS1365.1	.	.	.	.	.	.	.	.	.	.	A	27.8	4.861970	0.91433	.	.	ENSG00000121481	ENST00000367510;ENST00000367509;ENST00000453650	T;T;T	0.80824	-1.42;-1.42;-1.42	4.66	4.66	0.58398	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.000000	0.85682	D	0.000000	D	0.90428	0.7003	M	0.87180	2.865	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.993	D	0.92240	0.5800	10	0.87932	D	0	-23.1114	14.3901	0.66973	1.0:0.0:0.0:0.0	.	53;53	B3KRH1;Q99496	.;RING2_HUMAN	F	53	ENSP00000356480:I53F;ENSP00000356479:I53F;ENSP00000400722:I53F	ENSP00000356479:I53F	I	+	1	0	RNF2	183327403	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.742000	0.91588	1.871000	0.54225	0.528000	0.53228	ATT		0.383	RNF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085793.1	NM_007212		68	118	0	0	0	0.00361	0	68	118				
BRINP3	339479	broad.mit.edu	37	1	190067568	190067568	+	Silent	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr1:190067568G>T	ENST00000367462.3	-	8	2112	c.1881C>A	c.(1879-1881)atC>atA	p.I627I	BRINP3_ENST00000534846.1_Silent_p.I525I	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	627					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)		p.I627I(1)									TTCTCAGGTAGATGTGTACTG	0.458																																							uc001gse.1		NA																	1	Substitution - coding silent(1)		lung(1)	lung(2)|ovary(1)|kidney(1)|skin(1)	5						c.(1879-1881)ATC>ATA		family with sequence similarity 5, member C							226.0	236.0	233.0					1																	190067568		2203	4300	6503	SO:0001819	synonymous_variant	339479					extracellular region		g.chr1:190067568G>T	AB111893	CCDS1373.1	1q31.1	2013-09-18	2013-09-18	2013-09-18	ENSG00000162670	ENSG00000162670			22393	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member C"""	FAM5C		16018821, 15193423	Standard	NM_199051		Approved	DBCCR1L, DBCCR1L1	uc001gse.1	Q76B58	OTTHUMG00000035533	ENST00000367462.3:c.1881C>A	1.37:g.190067568G>T						FAM5C_uc010pot.1_Silent_p.I525I	p.I627I	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN			8	2113	-	Prostate(682;0.198)		627					B3KVP1|B7Z260|O95726|Q2M330	Silent	SNP	ENST00000367462.3	37	c.1881C>A	CCDS1373.1																																																																																				0.458	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086278.1	NM_199051		102	170	1	0	1.32035e-51	0.00361	2.53646e-51	102	170				
CFH	3075	broad.mit.edu	37	1	196706738	196706738	+	Missense_Mutation	SNP	A	A	C			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr1:196706738A>C	ENST00000367429.4	+	17	2970	c.2730A>C	c.(2728-2730)gaA>gaC	p.E910D		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	910	Sushi 15. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)	p.E910D(1)		NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						TATCTGAAGAAAATGAAACAA	0.368																																							uc001gtj.3		NA																	1	Substitution - Missense(1)		lung(1)	skin(4)|ovary(1)|breast(1)	6						c.(2728-2730)GAA>GAC		complement factor H isoform a precursor							91.0	84.0	87.0					1																	196706738		2203	4300	6503	SO:0001583	missense	3075				complement activation, alternative pathway	extracellular space		g.chr1:196706738A>C	Y00716	CCDS1385.1	1q32	2014-09-17	2004-08-09	2004-08-12	ENSG00000000971	ENSG00000000971		"""Complement system"""	4883	protein-coding gene	gene with protein product	"""beta-1H"", ""H factor 2 (complement)"", ""age-related maculopathy susceptibility 1"""	134370	"""H factor 1 (complement)"""	HF, HF1, HF2		2889480, 2963625	Standard	NM_000186		Approved	HUS, FHL1, ARMS1, ARMD4	uc001gtj.4	P08603	OTTHUMG00000035607	ENST00000367429.4:c.2730A>C	1.37:g.196706738A>C	ENSP00000356399:p.Glu910Asp						p.E910D	NM_000186	NP_000177	P08603	CFAH_HUMAN			17	2970	+			910			Sushi 15.		A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	Missense_Mutation	SNP	ENST00000367429.4	37	c.2730A>C	CCDS1385.1	.	.	.	.	.	.	.	.	.	.	.	12.68	2.010880	0.35511	.	.	ENSG00000000971	ENST00000367429	T	0.64085	-0.08	6.04	-5.29	0.02747	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.41811	0.1175	L	0.42245	1.32	0.09310	N	1	B	0.18741	0.03	B	0.18263	0.021	T	0.30149	-0.9988	9	0.19147	T	0.46	.	1.7329	0.02935	0.2709:0.3857:0.1324:0.211	.	910	P08603	CFAH_HUMAN	D	910	ENSP00000356399:E910D	ENSP00000356399:E910D	E	+	3	2	CFH	194973361	0.000000	0.05858	0.000000	0.03702	0.064000	0.16182	-0.925000	0.03992	-0.785000	0.04522	-0.323000	0.08544	GAA		0.368	CFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086412.2	NM_000186		8	37	0	0	0	0.004482	0	8	37				
CFHR1	3078	broad.mit.edu	37	1	196796100	196796100	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr1:196796100G>C	ENST00000320493.5	+	3	483	c.395G>C	c.(394-396)cGg>cCg	p.R132P	CFHR2_ENST00000367421.3_Intron|CFHR1_ENST00000367424.4_Missense_Mutation_p.R132P	NM_002113.2	NP_002104.2	Q03591	FHR1_HUMAN	complement factor H-related 1	132	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.R132P(1)		NS(1)|kidney(1)|large_intestine(2)|lung(7)	11						TGTGTAGAACGGGGCTGGTCC	0.393																																							uc001gtn.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(394-396)CGG>CCG		complement factor H-related 1 precursor							91.0	100.0	97.0					1																	196796100		1876	4122	5998	SO:0001583	missense	3078				complement activation	extracellular space		g.chr1:196796100G>C	M65292	CCDS1386.1	1q32	2014-09-17	2004-08-09	2006-02-28	ENSG00000244414	ENSG00000244414		"""Complement system"""	4888	protein-coding gene	gene with protein product		134371	"""H factor (complement)-like 1"", ""complement factor H-related 1 pseudogene"", ""H factor (complement)-like 2"""	HFL1, CFHL1, CFHR1P, HFL2, CFHL1P		1711047, 1826708	Standard	NM_002113		Approved	H36-1, FHR1, CFHL, H36-2		Q03591	OTTHUMG00000036276	ENST00000320493.5:c.395G>C	1.37:g.196796100G>C	ENSP00000314299:p.Arg132Pro					CFHR1_uc001gtm.2_Intron	p.R132P	NM_002113	NP_002104	Q03591	FHR1_HUMAN			3	509	+			132			Sushi 2.		A8K465|Q3B774|Q9UJ17	Missense_Mutation	SNP	ENST00000320493.5	37	c.395G>C	CCDS1386.1	.	.	.	.	.	.	.	.	.	.	.	6.146	0.395196	0.11638	.	.	ENSG00000244414	ENST00000367424;ENST00000320493	T;T	0.64803	-0.12;-0.12	2.99	-5.98	0.02220	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.59115	0.2170	L	0.53249	1.67	0.09310	N	1	D	0.58970	0.984	P	0.52710	0.707	T	0.57219	-0.7849	9	0.54805	T	0.06	.	5.6028	0.17363	0.2446:0.3065:0.4489:0.0	.	132	Q03591	FHR1_HUMAN	P	132	ENSP00000356394:R132P;ENSP00000314299:R132P	ENSP00000314299:R132P	R	+	2	0	CFHR1	195062723	0.000000	0.05858	0.000000	0.03702	0.060000	0.15804	-1.303000	0.02743	-1.942000	0.01040	0.184000	0.17185	CGG		0.393	CFHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088251.2	NM_002113		28	58	0	0	0	0.009535	0	28	58				
PLEKHA6	22874	broad.mit.edu	37	1	204198174	204198174	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr1:204198174C>A	ENST00000272203.3	-	19	2958	c.2642G>T	c.(2641-2643)cGg>cTg	p.R881L	PLEKHA6_ENST00000414478.1_Missense_Mutation_p.R901L	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	pleckstrin homology domain containing, family A member 6	881								p.R881L(1)		breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			CTCCTCTGCCCGCAGGGCTGC	0.617																																							uc001hau.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|pancreas(1)	4						c.(2641-2643)CGG>CTG		phosphoinositol 3-phosphate-binding protein-3							50.0	53.0	52.0					1																	204198174		2203	4300	6503	SO:0001583	missense	22874							g.chr1:204198174C>A	AB023186	CCDS1444.1	1q32	2013-01-10			ENSG00000143850	ENSG00000143850		"""Pleckstrin homology (PH) domain containing"""	17053	protein-coding gene	gene with protein product		607771				11001876	Standard	NM_014935		Approved	PEPP3, KIAA0969	uc001hau.4	Q9Y2H5	OTTHUMG00000036057	ENST00000272203.3:c.2642G>T	1.37:g.204198174C>A	ENSP00000272203:p.Arg881Leu						p.R881L	NM_014935	NP_055750	Q9Y2H5	PKHA6_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)		19	2959	-	all_cancers(21;0.0222)|Breast(84;0.179)		881					A7MD51|Q5VTI6	Missense_Mutation	SNP	ENST00000272203.3	37	c.2642G>T	CCDS1444.1	.	.	.	.	.	.	.	.	.	.	C	33	5.287636	0.95517	.	.	ENSG00000143850	ENST00000272203;ENST00000414478	T;T	0.13901	2.55;3.01	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.39009	0.1062	M	0.72894	2.215	0.58432	D	0.999998	D	0.65815	0.995	D	0.70227	0.968	T	0.07539	-1.0767	10	0.59425	D	0.04	-25.8086	19.115	0.93334	0.0:1.0:0.0:0.0	.	881	Q9Y2H5	PKHA6_HUMAN	L	881;901	ENSP00000272203:R881L;ENSP00000402046:R901L	ENSP00000272203:R881L	R	-	2	0	PLEKHA6	202464797	1.000000	0.71417	0.999000	0.59377	0.978000	0.69477	6.735000	0.74806	2.607000	0.88179	0.563000	0.77884	CGG		0.617	PLEKHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087889.3	NM_014935		7	44	1	0	5.18039e-06	0.00308	6.17778e-06	7	44				
PM20D1	148811	broad.mit.edu	37	1	205809437	205809437	+	Silent	SNP	G	G	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr1:205809437G>A	ENST00000367136.4	-	10	1103	c.1059C>T	c.(1057-1059)ccC>ccT	p.P353P	PM20D1_ENST00000460624.1_5'UTR	NM_152491.4	NP_689704.4	Q6GTS8	P20D1_HUMAN	peptidase M20 domain containing 1	353					negative regulation of neuron death (GO:1901215)|regulation of defense response to virus by host (GO:0050691)|regulation of viral process (GO:0050792)	extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|peptidase activity (GO:0008233)	p.P353P(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)	28	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			GGGCCACTGGGGGGATGACAT	0.498																																							uc001hdj.2		NA																	1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(1057-1059)CCC>CCT		peptidase M20 domain containing 1 precursor							99.0	92.0	95.0					1																	205809437		2203	4300	6503	SO:0001819	synonymous_variant	148811					extracellular region	metal ion binding|peptidase activity	g.chr1:205809437G>A		CCDS1460.1	1q32.1	2008-02-05			ENSG00000162877	ENSG00000162877			26518	protein-coding gene	gene with protein product							Standard	NM_152491		Approved	FLJ32569, Cps1	uc001hdj.3	Q6GTS8	OTTHUMG00000035999	ENST00000367136.4:c.1059C>T	1.37:g.205809437G>A						PM20D1_uc009xbr.2_RNA	p.P353P	NM_152491	NP_689704	Q6GTS8	P20D1_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0252)		10	1104	-	Breast(84;0.201)		353					Q6P4E3|Q96DM4	Silent	SNP	ENST00000367136.4	37	c.1059C>T	CCDS1460.1																																																																																				0.498	PM20D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087736.1	NM_152491		13	23	0	0	0	0.00245	0	13	23				
IKBKE	9641	broad.mit.edu	37	1	206653244	206653244	+	Silent	SNP	A	A	G			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr1:206653244A>G	ENST00000367120.3	+	11	1588	c.1215A>G	c.(1213-1215)aaA>aaG	p.K405K	IKBKE_ENST00000537984.1_Silent_p.K320K	NM_001193322.1|NM_014002.3	NP_001180251.1|NP_054721.1	Q14164	IKKE_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon	405	Interaction with DDX3X.				immune response (GO:0006955)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of type I interferon production (GO:0032480)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein phosphorylation (GO:0006468)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|IkappaB kinase activity (GO:0008384)|NF-kappaB-inducing kinase activity (GO:0004704)	p.K405K(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|skin(2)	32	Breast(84;0.137)					TCGTCCCCAAAGTGGACCTGC	0.602											OREG0014170	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc001hdz.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)|lung(3)|central_nervous_system(1)|skin(1)	8						c.(1213-1215)AAA>AAG		IKK-related kinase epsilon							45.0	44.0	44.0					1																	206653244		2203	4300	6503	SO:0001819	synonymous_variant	9641				DNA damage response, signal transduction resulting in induction of apoptosis|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane|PML body	ATP binding|IkappaB kinase activity|NF-kappaB-inducing kinase activity|protein binding	g.chr1:206653244A>G	AB016590	CCDS30996.1, CCDS53464.1, CCDS73019.1	1q31	2014-05-06			ENSG00000143466				14552	protein-coding gene	gene with protein product		605048				10421793, 10882136	Standard	NM_001193321		Approved	IKKE, IKK-i, KIAA0151	uc001hdz.2	Q14164	OTTHUMG00000184613	ENST00000367120.3:c.1215A>G	1.37:g.206653244A>G			OREG0014170	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2161	IKBKE_uc009xbv.1_Silent_p.K405K|IKBKE_uc001hea.1_Silent_p.K320K	p.K405K	NM_014002	NP_054721	Q14164	IKKE_HUMAN			11	1583	+	Breast(84;0.137)		405					D3DT78|Q3B754|Q3KR43|Q5JTS6	Silent	SNP	ENST00000367120.3	37	c.1215A>G	CCDS30996.1																																																																																				0.602	IKBKE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088484.1			4	24	0	0	0	0.009096	0	4	24				
IRF6	3664	broad.mit.edu	37	1	209974728	209974728	+	Nonsense_Mutation	SNP	T	T	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr1:209974728T>A	ENST00000367021.3	-	3	203	c.31A>T	c.(31-33)Aag>Tag	p.K11*	IRF6_ENST00000542854.1_Intron	NM_006147.3	NP_006138.1	O14896	IRF6_HUMAN	interferon regulatory factor 6	11					cell cycle arrest (GO:0007050)|cell development (GO:0048468)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell proliferation (GO:0008285)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K11*(1)		cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		AGCCAGGGCTTTAGCCGGACT	0.597										HNSCC(57;0.16)																													uc001hhq.1		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(2)	2						c.(31-33)AAG>TAG		interferon regulatory factor 6							54.0	62.0	59.0					1																	209974728		2203	4300	6503	SO:0001587	stop_gained	3664				cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr1:209974728T>A	AL022398	CCDS1492.1, CCDS55681.1	1q32.2-q32.3	2011-02-10			ENSG00000117595	ENSG00000117595			6121	protein-coding gene	gene with protein product		607199	"""Van der Woude syndrome"""	VWS, LPS		12219090	Standard	NM_006147		Approved	OFC6, VWS1	uc001hhq.2	O14896	OTTHUMG00000036521	ENST00000367021.3:c.31A>T	1.37:g.209974728T>A	ENSP00000355988:p.Lys11*	HNSCC(57;0.16)				IRF6_uc010psm.1_Intron|IRF6_uc009xct.1_Nonsense_Mutation_p.K11*	p.K11*	NM_006147	NP_006138	O14896	IRF6_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0351)	3	294	-			11			IRF tryptophan pentad repeat.		B4DLE2|D3DT90|F5GWX8|G0ZTL0	Nonsense_Mutation	SNP	ENST00000367021.3	37	c.31A>T	CCDS1492.1	.	.	.	.	.	.	.	.	.	.	T	39	7.465910	0.98302	.	.	ENSG00000117595	ENST00000367021;ENST00000456314	.	.	.	6.17	6.17	0.99709	.	0.042820	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.8222	0.85835	0.0:0.0:0.0:1.0	.	.	.	.	X	11	.	.	K	-	1	0	IRF6	208041351	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	7.516000	0.81772	2.371000	0.80710	0.533000	0.62120	AAG		0.597	IRF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088827.1	NM_006147		41	64	0	0	0	0.002522	0	41	64				
USH2A	7399	broad.mit.edu	37	1	216062061	216062061	+	Missense_Mutation	SNP	A	A	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr1:216062061A>T	ENST00000307340.3	-	41	8316	c.7930T>A	c.(7930-7932)Tgg>Agg	p.W2644R	RP5-1111A8.3_ENST00000414995.1_RNA|USH2A_ENST00000366943.2_Missense_Mutation_p.W2644R	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2644	Fibronectin type-III 13. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.W2644R(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GGGGGTTGCCAAGATATAATC	0.507										HNSCC(13;0.011)																													uc001hku.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(7930-7932)TGG>AGG		usherin isoform B							77.0	84.0	82.0					1																	216062061		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216062061A>T	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.7930T>A	1.37:g.216062061A>T	ENSP00000305941:p.Trp2644Arg	HNSCC(13;0.011)					p.W2644R	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	41	8317	-			2644			Extracellular (Potential).|Fibronectin type-III 13.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.7930T>A	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	A	21.9	4.212110	0.79240	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	D;D	0.86297	-2.1;-2.1	5.84	4.72	0.59763	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.40728	N	0.001037	D	0.93465	0.7915	M	0.89601	3.045	0.54753	D	0.999987	D	0.57899	0.981	D	0.63033	0.91	D	0.93776	0.7079	10	0.87932	D	0	.	11.5864	0.50920	0.9308:0.0:0.0692:0.0	.	2644	O75445	USH2A_HUMAN	R	2644	ENSP00000305941:W2644R;ENSP00000355910:W2644R	ENSP00000305941:W2644R	W	-	1	0	USH2A	214128684	1.000000	0.71417	0.991000	0.47740	0.942000	0.58702	8.609000	0.90898	1.043000	0.40175	0.533000	0.62120	TGG		0.507	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		10	50	0	0	0	0.000978	0	10	50				
USH2A	7399	broad.mit.edu	37	1	216219923	216219923	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr1:216219923C>A	ENST00000307340.3	-	32	6561	c.6175G>T	c.(6175-6177)Gtt>Ttt	p.V2059F	USH2A_ENST00000366943.2_Missense_Mutation_p.V2059F	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2059	Fibronectin type-III 7. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.V2059F(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GGTGGCTGAACCTCTTGTGGG	0.378										HNSCC(13;0.011)																													uc001hku.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(6175-6177)GTT>TTT		usherin isoform B							71.0	68.0	69.0					1																	216219923		2203	4299	6502	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216219923C>A	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.6175G>T	1.37:g.216219923C>A	ENSP00000305941:p.Val2059Phe	HNSCC(13;0.011)					p.V2059F	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	32	6562	-			2059			Extracellular (Potential).|Fibronectin type-III 7.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.6175G>T	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.028381	0.75390	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.56275	0.47;0.47	5.68	4.76	0.60689	Fibronectin, type III (4);	0.000000	0.39544	N	0.001333	T	0.77226	0.4099	M	0.91510	3.215	0.51767	D	0.999931	D	0.89917	1.0	D	0.85130	0.997	T	0.82018	-0.0665	10	0.54805	T	0.06	.	13.7961	0.63171	0.0:0.9264:0.0:0.0736	.	2059	O75445	USH2A_HUMAN	F	2059	ENSP00000305941:V2059F;ENSP00000355910:V2059F	ENSP00000305941:V2059F	V	-	1	0	USH2A	214286546	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.139000	0.50577	1.531000	0.49152	0.655000	0.94253	GTT		0.378	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		11	48	1	0	1.5842e-08	0.001855	2.06776e-08	11	48				
ITPKB	3707	broad.mit.edu	37	1	226923458	226923458	+	Missense_Mutation	SNP	C	C	G			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr1:226923458C>G	ENST00000272117.3	-	1	1701	c.1702G>C	c.(1702-1704)Gct>Cct	p.A568P	ITPKB_ENST00000429204.1_Missense_Mutation_p.A568P|ITPKB_ENST00000366784.1_Missense_Mutation_p.A568P			P27987	IP3KB_HUMAN	inositol-trisphosphate 3-kinase B	568					cell surface receptor signaling pathway (GO:0007166)|inositol phosphate metabolic process (GO:0043647)|MAPK cascade (GO:0000165)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of Ras protein signal transduction (GO:0046579)|positive thymic T cell selection (GO:0045059)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)	p.A94P(1)|p.A568P(1)		central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30		Prostate(94;0.0773)				ATGATGACAGCAGGTATGTTG	0.617																																					Colon(84;110 1851 5306 33547)	Colon(84;110 1851 5306 33547)	uc010pvo.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)|central_nervous_system(1)	5						c.(1702-1704)GCT>CCT		1D-myo-inositol-trisphosphate 3-kinase B							52.0	47.0	49.0					1																	226923458		2203	4300	6503	SO:0001583	missense	3707						ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity	g.chr1:226923458C>G	AJ242780	CCDS1555.1	1q42.12	2011-04-28	2011-04-28		ENSG00000143772	ENSG00000143772	2.7.1.127		6179	protein-coding gene	gene with protein product		147522	"""inositol 1,4,5-trisphosphate 3-kinase B"""			1654894, 1330886	Standard	NM_002221		Approved	IP3KB, IP3-3KB	uc010pvo.2	P27987	OTTHUMG00000037582	ENST00000272117.3:c.1702G>C	1.37:g.226923458C>G	ENSP00000272117:p.Ala568Pro					ITPKB_uc001hqh.2_Missense_Mutation_p.A568P	p.A568P	NM_002221	NP_002212	P27987	IP3KB_HUMAN			2	2042	-		Prostate(94;0.0773)	568					Q5VWL9|Q5VWM0|Q96BZ2|Q96JS1|Q9UH47	Missense_Mutation	SNP	ENST00000272117.3	37	c.1702G>C	CCDS1555.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.379753	0.82682	.	.	ENSG00000143772	ENST00000272117;ENST00000429204;ENST00000366784	T;T;T	0.47528	1.53;1.53;0.84	5.54	5.54	0.83059	.	0.123897	0.56097	D	0.000033	T	0.57007	0.2024	L	0.27053	0.805	0.36589	D	0.873971	D	0.89917	1.0	D	0.74674	0.984	T	0.55964	-0.8057	10	0.25751	T	0.34	-21.4638	19.8397	0.96678	0.0:1.0:0.0:0.0	.	568	P27987	IP3KB_HUMAN	P	568	ENSP00000272117:A568P;ENSP00000411152:A568P;ENSP00000355748:A568P	ENSP00000272117:A568P	A	-	1	0	ITPKB	224990081	0.980000	0.34600	0.959000	0.39883	0.918000	0.54935	2.553000	0.45837	2.768000	0.95171	0.491000	0.48974	GCT		0.617	ITPKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091632.1	NM_002221		8	18	0	0	0	0.00308	0	8	18				
TRIM17	51127	broad.mit.edu	37	1	228596162	228596162	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr1:228596162G>C	ENST00000366697.2	-	6	2130	c.1174C>G	c.(1174-1176)Cag>Gag	p.Q392E	TRIM17_ENST00000366698.2_Missense_Mutation_p.Q392E|TRIM11_ENST00000366699.3_5'Flank|TRIM11_ENST00000284551.6_5'Flank|RP11-245P10.4_ENST00000436779.1_RNA|TRIM17_ENST00000295033.3_Missense_Mutation_p.Q392E|TRIM11_ENST00000493030.2_5'Flank			Q9Y577	TRI17_HUMAN	tripartite motif containing 17	392	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				protein autoubiquitination (GO:0051865)	intracellular (GO:0005622)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.Q392E(1)		NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	10		Prostate(94;0.0724)				TTGGACAGCTGCACCACCCAG	0.612																																							uc001hsu.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1174-1176)CAG>GAG		tripartite motif-containing 17 isoform 1							82.0	90.0	87.0					1																	228596162		2203	4300	6503	SO:0001583	missense	51127				protein autoubiquitination	intracellular	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:228596162G>C	AF156271	CCDS1571.1, CCDS44327.1	1q42	2013-01-09	2011-01-25	2001-11-30	ENSG00000162931	ENSG00000162931		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	13430	protein-coding gene	gene with protein product	"""ring finger protein 16"", ""RING finger protein terf"", ""testis RING finger protein"""	606123	"""tripartite motif-containing 17"""	RNF16		9792805, 10894938	Standard	NM_016102		Approved	terf, RBCC	uc001hsv.3	Q9Y577	OTTHUMG00000039974	ENST00000366697.2:c.1174C>G	1.37:g.228596162G>C	ENSP00000355658:p.Gln392Glu					TRIM11_uc001hss.2_5'Flank|TRIM11_uc010pvx.1_5'Flank|TRIM11_uc001hst.1_5'Flank|TRIM17_uc001hsv.2_Missense_Mutation_p.Q392E|TRIM17_uc001hsw.2_Missense_Mutation_p.Q365E	p.Q392E	NM_016102	NP_057186	Q9Y577	TRI17_HUMAN			7	1559	-		Prostate(94;0.0724)	392			B30.2/SPRY.		B4DVJ2|Q5VST8	Missense_Mutation	SNP	ENST00000366697.2	37	c.1174C>G	CCDS1571.1	.	.	.	.	.	.	.	.	.	.	G	15.64	2.892881	0.52121	.	.	ENSG00000162931	ENST00000366697;ENST00000366698;ENST00000295033	T;T;T	0.67698	-0.28;-0.28;-0.28	4.71	4.71	0.59529	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.356190	0.21113	N	0.079948	T	0.56031	0.1958	N	0.17872	0.535	0.80722	D	1	P	0.34934	0.476	B	0.39419	0.299	T	0.55431	-0.8142	10	0.30854	T	0.27	.	15.9788	0.80091	0.0:0.0:1.0:0.0	.	392	Q9Y577	TRI17_HUMAN	E	392	ENSP00000355658:Q392E;ENSP00000355659:Q392E;ENSP00000295033:Q392E	ENSP00000295033:Q392E	Q	-	1	0	TRIM17	226662785	0.571000	0.26659	0.998000	0.56505	0.933000	0.57130	0.520000	0.22878	2.531000	0.85337	0.655000	0.94253	CAG		0.612	TRIM17-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096439.2	NM_016102		12	42	0	0	0	0.001855	0	12	42				
MAP10	54627	broad.mit.edu	37	1	232943500	232943500	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr1:232943500G>T	ENST00000418460.1	+	1	2858	c.2731G>T	c.(2731-2733)Ggg>Tgg	p.G911W		NM_019090.2	NP_061963.2	Q9P2G4	MAP10_HUMAN	microtubule-associated protein 10	769					cytoplasmic microtubule organization (GO:0031122)|positive regulation of cytokinesis (GO:0032467)|regulation of microtubule-based process (GO:0032886)|spindle midzone assembly involved in mitosis (GO:0051256)	centrosome (GO:0005813)|cytoplasmic microtubule (GO:0005881)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|mitotic spindle pole (GO:0097431)	microtubule binding (GO:0008017)	p.G911W(4)									TTTTTCAGCCGGGTCACCTGT	0.378																																							uc001hvh.2		NA																	4	Substitution - Missense(4)		lung(2)|endometrium(2)	ovary(1)	1						c.(2731-2733)GGG>TGG		hypothetical protein LOC54627							46.0	46.0	46.0					1																	232943500		1847	4078	5925	SO:0001583	missense	54627							g.chr1:232943500G>T	AB037804	CCDS44334.1	1q42.2	2013-02-12	2013-02-12	2013-02-12	ENSG00000212916	ENSG00000212916			29265	protein-coding gene	gene with protein product	"""microtubule regulator 120 KDa"""		"""KIAA1383"""	KIAA1383		23264731	Standard	NM_019090		Approved	MTR120	uc001hvh.2	Q9P2G4	OTTHUMG00000037819	ENST00000418460.1:c.2731G>T	1.37:g.232943500G>T	ENSP00000403208:p.Gly911Trp						p.G911W	NM_019090	NP_061963	Q9P2G4	K1383_HUMAN			1	2863	+		all_cancers(173;0.00528)|Prostate(94;0.122)|all_epithelial(177;0.169)	769			Ser-rich.		A8K2F1|Q32MI1|Q58EZ9|Q5VV83	Missense_Mutation	SNP	ENST00000418460.1	37	c.2731G>T	CCDS44334.1	.	.	.	.	.	.	.	.	.	.	G	10.20	1.284422	0.23392	.	.	ENSG00000212916	ENST00000418460	.	.	.	5.78	3.9	0.45041	.	0.493623	0.14939	U	0.289629	T	0.64724	0.2624	M	0.69823	2.125	0.09310	N	0.999999	D	0.89917	1.0	D	0.87578	0.998	T	0.54146	-0.8337	9	0.87932	D	0	-5.1359	8.3572	0.32338	0.1382:0.0:0.7284:0.1334	.	769	Q9P2G4	K1383_HUMAN	W	911	.	ENSP00000403208:G911W	G	+	1	0	KIAA1383	231010123	1.000000	0.71417	0.078000	0.20375	0.117000	0.20001	2.969000	0.49232	0.783000	0.33636	0.467000	0.42956	GGG		0.378	MAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092317.3	NM_019090		11	42	1	0	1.08611e-07	0.000978	1.37377e-07	11	42				
PCNXL2	80003	broad.mit.edu	37	1	233394783	233394783	+	Silent	SNP	C	C	A	rs371142631		TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr1:233394783C>A	ENST00000258229.9	-	5	1059	c.825G>T	c.(823-825)ccG>ccT	p.P275P	PCNXL2_ENST00000430153.1_5'UTR	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	275						integral component of membrane (GO:0016021)		p.P275P(2)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				CACTCCCCCACGGCTGGAAAG	0.522																																							uc001hvl.2		NA																	2	Substitution - coding silent(2)		large_intestine(1)|lung(1)	central_nervous_system(1)|pancreas(1)	2						c.(823-825)CCG>CCT		pecanex-like 2							56.0	59.0	58.0					1																	233394783		1928	4121	6049	SO:0001819	synonymous_variant	80003					integral to membrane		g.chr1:233394783C>A	AK055374	CCDS44335.1	1q42.2	2008-02-05	2001-11-28		ENSG00000135749	ENSG00000135749			8736	protein-coding gene	gene with protein product			"""pecanex (Drosophila)-like 2"""			12477932	Standard	NM_014801		Approved	KIAA0435, FLJ11383	uc001hvl.2	A6NKB5	OTTHUMG00000037824	ENST00000258229.9:c.825G>T	1.37:g.233394783C>A						PCNXL2_uc009xfu.2_RNA|PCNXL2_uc009xfv.1_RNA	p.P275P	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN			5	1060	-		all_cancers(173;0.0347)|Prostate(94;0.137)	275					O43162|Q5T9Z8|Q5TDF1|Q8TEP4|Q96HP9|Q9HAL8	Silent	SNP	ENST00000258229.9	37	c.825G>T	CCDS44335.1																																																																																				0.522	PCNXL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092480.3	NM_014801		28	19	1	0	1.42536e-11	0.004656	2.08102e-11	28	19				
RYR2	6262	broad.mit.edu	37	1	237881823	237881823	+	Splice_Site	SNP	T	T	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr1:237881823T>A	ENST00000366574.2	+	73	10871		c.e73+2		RYR2_ENST00000609119.1_Splice_Site|RYR2_ENST00000360064.6_Splice_Site|RYR2_ENST00000542537.1_Splice_Site	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)						BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.?(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CAAGGCAAGGTAAGCCAAATT	0.289																																							uc001hyl.1		NA																	1	Unknown(1)		lung(1)	ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.e73+2		cardiac muscle ryanodine receptor							71.0	66.0	68.0					1																	237881823		1836	4084	5920	SO:0001630	splice_region_variant	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237881823T>A	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.10554+2T>A	1.37:g.237881823T>A						RYR2_uc010pxz.1_Splice_Site_p.K473_splice	p.K3518_splice	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		73	10674	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)						Q15411|Q546N8|Q5T3P2	Splice_Site	SNP	ENST00000366574.2	37	c.10554_splice	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	T	26.0	4.694678	0.88830	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288	.	.	.	5.66	5.66	0.87406	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.898	0.79350	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	RYR2	235948446	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.765000	0.85310	2.150000	0.67090	0.528000	0.53228	.		0.289	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035	Intron	3	20	0	0	0	0.009096	0	3	20				
RYR2	6262	broad.mit.edu	37	1	237936818	237936818	+	Splice_Site	SNP	A	A	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr1:237936818A>T	ENST00000366574.2	+	87	11963		c.e87-1		RYR2_ENST00000609119.1_Splice_Site|RYR2_ENST00000360064.6_Splice_Site|RYR2_ENST00000542537.1_Splice_Site	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)						BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.?(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TCTATTTCCCAGGAATCAATT	0.323																																							uc001hyl.1		NA																	1	Unknown(1)		lung(1)	ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.e87-2		cardiac muscle ryanodine receptor							86.0	83.0	84.0					1																	237936818		1808	4065	5873	SO:0001630	splice_region_variant	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237936818A>T	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.11647-1A>T	1.37:g.237936818A>T						RYR2_uc010pya.1_Splice_Site_p.E298_splice	p.E3883_splice	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		87	11767	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)						Q15411|Q546N8|Q5T3P2	Splice_Site	SNP	ENST00000366574.2	37	c.11647_splice	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	A	22.4	4.288348	0.80803	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288	.	.	.	5.13	5.13	0.70059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.2625	0.73634	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RYR2	236003441	1.000000	0.71417	0.993000	0.49108	0.904000	0.53231	9.287000	0.95975	2.057000	0.61298	0.523000	0.50628	.		0.323	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035	Intron	11	18	0	0	0	0.000978	0	11	18				
KIF26B	55083	broad.mit.edu	37	1	245582977	245582977	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr1:245582977G>A	ENST00000407071.2	+	4	1536	c.1096G>A	c.(1096-1098)Gcc>Acc	p.A366T		NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	366					establishment of cell polarity (GO:0030010)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|ureteric bud invasion (GO:0072092)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)	p.A366T(2)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			CAGTGTCCCAGCCTCGCAGGG	0.582																																							uc001ibf.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)	3						c.(1096-1098)GCC>ACC		kinesin family member 26B							78.0	81.0	80.0					1																	245582977		1988	4159	6147	SO:0001583	missense	55083				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr1:245582977G>A	AK001019	CCDS44342.1	1q44	2008-02-05			ENSG00000162849	ENSG00000162849		"""Kinesins"""	25484	protein-coding gene	gene with protein product		614026					Standard	NM_018012		Approved	FLJ10157	uc001ibf.1	Q2KJY2	OTTHUMG00000040079	ENST00000407071.2:c.1096G>A	1.37:g.245582977G>A	ENSP00000385545:p.Ala366Thr					KIF26B_uc010pyq.1_Missense_Mutation_p.A366T	p.A366T	NM_018012	NP_060482	Q2KJY2	KI26B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.022)		4	1536	+	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		366					Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	Missense_Mutation	SNP	ENST00000407071.2	37	c.1096G>A	CCDS44342.1	.	.	.	.	.	.	.	.	.	.	G	16.50	3.140041	0.56936	.	.	ENSG00000162849	ENST00000407071	T	0.77229	-1.08	5.45	5.45	0.79879	.	.	.	.	.	T	0.74191	0.3684	L	0.51422	1.61	0.80722	D	1	B	0.09022	0.002	B	0.04013	0.001	T	0.67929	-0.5543	9	0.25751	T	0.34	.	19.2769	0.94034	0.0:0.0:1.0:0.0	.	366	Q2KJY2	KI26B_HUMAN	T	366	ENSP00000385545:A366T	ENSP00000385545:A366T	A	+	1	0	KIF26B	243649600	0.150000	0.22732	0.740000	0.30986	0.366000	0.29705	2.503000	0.45407	2.529000	0.85273	0.643000	0.83706	GCC		0.582	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381037.1	XM_371354		14	65	0	0	0	0.00245	0	14	65				
KIF26B	55083	broad.mit.edu	37	1	245848767	245848767	+	Missense_Mutation	SNP	A	A	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr1:245848767A>T	ENST00000407071.2	+	12	2922	c.2482A>T	c.(2482-2484)Acc>Tcc	p.T828S	KIF26B_ENST00000366518.4_Missense_Mutation_p.T447S	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	828					establishment of cell polarity (GO:0030010)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|ureteric bud invasion (GO:0072092)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)	p.T828S(2)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			GCGCAGGCCCACCCAGCTGAG	0.642																																							uc001ibf.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)	3						c.(2482-2484)ACC>TCC		kinesin family member 26B							54.0	62.0	59.0					1																	245848767		2186	4265	6451	SO:0001583	missense	55083				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr1:245848767A>T	AK001019	CCDS44342.1	1q44	2008-02-05			ENSG00000162849	ENSG00000162849		"""Kinesins"""	25484	protein-coding gene	gene with protein product		614026					Standard	NM_018012		Approved	FLJ10157	uc001ibf.1	Q2KJY2	OTTHUMG00000040079	ENST00000407071.2:c.2482A>T	1.37:g.245848767A>T	ENSP00000385545:p.Thr828Ser					KIF26B_uc001ibg.1_Missense_Mutation_p.T446S|KIF26B_uc001ibh.1_Missense_Mutation_p.T70S	p.T828S	NM_018012	NP_060482	Q2KJY2	KI26B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.022)		12	2922	+	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		828					Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	Missense_Mutation	SNP	ENST00000407071.2	37	c.2482A>T	CCDS44342.1	.	.	.	.	.	.	.	.	.	.	A	16.32	3.091186	0.55968	.	.	ENSG00000162849	ENST00000407071;ENST00000366518;ENST00000413001	T;T	0.77750	-1.12;-1.11	5.84	5.84	0.93424	.	.	.	.	.	D	0.83362	0.5238	M	0.76574	2.34	0.58432	D	0.999999	D;B	0.56746	0.977;0.337	P;B	0.52909	0.713;0.138	T	0.82281	-0.0535	9	0.29301	T	0.29	.	16.2045	0.82114	1.0:0.0:0.0:0.0	.	447;828	B7WPD9;Q2KJY2	.;KI26B_HUMAN	S	828;447;444	ENSP00000385545:T828S;ENSP00000355475:T447S	ENSP00000355475:T447S	T	+	1	0	KIF26B	243915390	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.184000	0.65070	2.234000	0.73211	0.459000	0.35465	ACC		0.642	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381037.1	XM_371354		10	15	0	0	0	0.008291	0	10	15				
ZNF695	57116	broad.mit.edu	37	1	247150365	247150365	+	Silent	SNP	T	T	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr1:247150365T>A	ENST00000339986.7	-	4	1599	c.1452A>T	c.(1450-1452)acA>acT	p.T484T	ZNF695_ENST00000487338.2_Intron|ZNF695_ENST00000498046.2_Intron	NM_020394.4	NP_065127	Q8IW36	ZN695_HUMAN	zinc finger protein 695	484					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.T484T(1)		endometrium(1)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	13	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			TGGTATGAATTGTCTTATGTT	0.398																																							uc009xgu.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(1450-1452)ACA>ACT		zinc finger protein SBZF3							114.0	118.0	117.0					1																	247150365		2096	4249	6345	SO:0001819	synonymous_variant	57116				regulation of transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr1:247150365T>A		CCDS44344.1, CCDS55694.1	1q44	2013-01-08			ENSG00000197472	ENSG00000197472		"""Zinc fingers, C2H2-type"", ""-"""	30954	protein-coding gene	gene with protein product						12477932	Standard	NM_020394		Approved	SBZF3	uc009xgu.3	Q8IW36	OTTHUMG00000040707	ENST00000339986.7:c.1452A>T	1.37:g.247150365T>A						ZNF695_uc001ica.2_Intron|ZNF695_uc001icb.1_Intron|ZNF695_uc009xgt.1_Intron|ZNF695_uc001ibx.2_Intron|ZNF695_uc001iby.2_Intron	p.T484T	NM_020394	NP_065127	Q8IW36	ZN695_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00271)		4	1597	-	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	484			C2H2-type 12.		Q5T0N9|Q5T0P1|Q5T0P3|Q7Z2W8|Q7Z648	Silent	SNP	ENST00000339986.7	37	c.1452A>T	CCDS44344.1																																																																																				0.398	ZNF695-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097823.5	NM_020394		19	30	0	0	0	0.007413	0	19	30				
NLRP3	114548	broad.mit.edu	37	1	247588321	247588321	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr1:247588321C>A	ENST00000336119.3	+	3	2322	c.1576C>A	c.(1576-1578)Cag>Aag	p.Q526K	NLRP3_ENST00000366496.2_Missense_Mutation_p.Q526K|NLRP3_ENST00000348069.2_Missense_Mutation_p.Q526K|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000391828.3_Missense_Mutation_p.Q526K|NLRP3_ENST00000391827.2_Missense_Mutation_p.Q526K|NLRP3_ENST00000366497.2_Missense_Mutation_p.Q526K	NM_001127462.2|NM_001243133.1|NM_004895.4	NP_001120934.1|NP_001230062.1|NP_004886.3	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	526	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to lipopolysaccharide (GO:0071222)|defense response (GO:0006952)|defense response to virus (GO:0051607)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|interleukin-1 secretion (GO:0050701)|interleukin-18 production (GO:0032621)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta secretion (GO:0050713)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|NLRP3 inflammasome complex assembly (GO:0044546)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|NLRP3 inflammasome complex (GO:0072559)	ATP binding (GO:0005524)|peptidoglycan binding (GO:0042834)	p.Q526K(2)		NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			CATGACTTTCCAGGAGTTCTT	0.517																																							uc001icr.2		NA																	2	Substitution - Missense(2)		large_intestine(1)|lung(1)	lung(8)|skin(8)|ovary(7)|upper_aerodigestive_tract(1)|breast(1)|pancreas(1)	26						c.(1576-1578)CAG>AAG		NLR family, pyrin domain containing 3 isoform a							66.0	60.0	62.0					1																	247588321		2203	4300	6503	SO:0001583	missense	114548				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	g.chr1:247588321C>A	AF054176	CCDS1632.1, CCDS1633.1, CCDS44346.1, CCDS44347.1	1q44	2014-09-17	2006-12-08	2006-12-08	ENSG00000162711	ENSG00000162711		"""Nucleotide-binding domain and leucine rich repeat containing"""	16400	protein-coding gene	gene with protein product	"""Cryopyrin"", ""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3"""	606416	"""cold autoinflammatory syndrome 1"""	C1orf7, CIAS1		10741953	Standard	NM_183395		Approved	AGTAVPRL, AII, AVP, FCAS, FCU, NALP3, PYPAF1, MWS, CLR1.1	uc001icr.3	Q96P20	OTTHUMG00000040647	ENST00000336119.3:c.1576C>A	1.37:g.247588321C>A	ENSP00000337383:p.Gln526Lys					NLRP3_uc001ics.2_Missense_Mutation_p.Q526K|NLRP3_uc001icu.2_Missense_Mutation_p.Q526K|NLRP3_uc001icw.2_Missense_Mutation_p.Q526K|NLRP3_uc001icv.2_Missense_Mutation_p.Q526K|NLRP3_uc010pyw.1_Missense_Mutation_p.Q524K|NLRP3_uc001ict.1_Missense_Mutation_p.Q524K	p.Q526K	NM_001079821	NP_001073289	Q96P20	NALP3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0141)		5	1714	+	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	526			NACHT.		B2RC97|B7ZKS9|B7ZKT2|B7ZKT3|O75434|Q17RS2|Q59H68|Q5JQS8|Q5JQS9|Q6TG35|Q8TCW0|Q8TEU9|Q8WXH9	Missense_Mutation	SNP	ENST00000336119.3	37	c.1576C>A	CCDS1632.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.364473	0.82463	.	.	ENSG00000162711	ENST00000391828;ENST00000366497;ENST00000336119;ENST00000348069;ENST00000366496;ENST00000391827	D;D;D;D;D;D	0.88664	-2.41;-2.41;-2.41;-2.41;-2.41;-2.41	4.17	4.17	0.49024	NACHT nucleoside triphosphatase (1);	0.000000	0.50627	D	0.000118	D	0.95686	0.8597	H	0.95574	3.69	0.47245	D	0.999362	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;0.999;0.999;1.0	D	0.96047	0.9028	10	0.87932	D	0	.	12.2773	0.54744	0.0:1.0:0.0:0.0	.	526;526;526;526;526	B7ZKS9;Q96P20-4;Q96P20-2;Q96P20-5;Q96P20	.;.;.;.;NALP3_HUMAN	K	526	ENSP00000375704:Q526K;ENSP00000355453:Q526K;ENSP00000337383:Q526K;ENSP00000294752:Q526K;ENSP00000355452:Q526K;ENSP00000375703:Q526K	ENSP00000337383:Q526K	Q	+	1	0	NLRP3	245654944	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.757000	0.74924	2.612000	0.88384	0.655000	0.94253	CAG		0.517	NLRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097740.1	NM_004895		13	21	1	0	0.00316338	0.003163	0.00338531	13	21				
OR2C3	81472	broad.mit.edu	37	1	247695185	247695185	+	Missense_Mutation	SNP	A	A	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr1:247695185A>T	ENST00000366487.3	-	2	990	c.629T>A	c.(628-630)cTg>cAg	p.L210Q	GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000366491.2_Intron	NM_198074.4	NP_932340	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C, member 3	210						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L209Q(1)		breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			CCCCAGAGGCAGGACAACAAA	0.532																																							uc009xgy.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(628-630)CTG>CAG		olfactory receptor, family 2, subfamily C,							94.0	90.0	91.0					1																	247695185		2203	4300	6503	SO:0001583	missense	81472				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247695185A>T	BC030717	CCDS1634.2	1q44	2014-02-19	2002-02-28		ENSG00000196242	ENSG00000196242		"""GPCR / Class A : Olfactory receptors"""	15005	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily C, member 4"""	OR2C4, OR2C5P			Standard	NM_198074		Approved	OST742	uc009xgy.3	Q8N628	OTTHUMG00000040579	ENST00000366487.3:c.629T>A	1.37:g.247695185A>T	ENSP00000355443:p.Leu210Gln					C1orf150_uc009xgw.2_Intron|C1orf150_uc001ida.3_Intron|C1orf150_uc001idb.3_Intron|C1orf150_uc009xgx.2_Intron|LOC148824_uc001idd.2_5'Flank	p.L210Q	NM_198074	NP_932340	Q8N628	OR2C3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0241)		2	991	-	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	210			Helical; Name=5; (Potential).		Q5JQS4|Q6IEZ1|Q8NGW7	Missense_Mutation	SNP	ENST00000366487.3	37	c.629T>A	CCDS1634.2	.	.	.	.	.	.	.	.	.	.	A	13.96	2.392511	0.42410	.	.	ENSG00000196242	ENST00000366487	T	0.46819	0.86	3.89	3.89	0.44902	GPCR, rhodopsin-like superfamily (1);	0.628271	0.12043	U	0.504885	T	0.66992	0.2846	M	0.80332	2.49	0.09310	N	1	D	0.89917	1.0	D	0.77004	0.989	T	0.55042	-0.8202	10	0.87932	D	0	.	7.5358	0.27710	0.7812:0.2188:0.0:0.0	.	210	Q8N628	OR2C3_HUMAN	Q	210	ENSP00000355443:L210Q	ENSP00000355443:L210Q	L	-	2	0	OR2C3	245761808	0.001000	0.12720	0.584000	0.28653	0.701000	0.40568	1.078000	0.30754	1.752000	0.51891	0.528000	0.53228	CTG		0.532	OR2C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097626.2	NM_198074		8	22	0	0	0	0.00308	0	8	22				
OR14A16	284532	broad.mit.edu	37	1	247978138	247978138	+	Silent	SNP	C	C	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr1:247978138C>T	ENST00000357627.1	-	1	893	c.894G>A	c.(892-894)ctG>ctA	p.L298L		NM_001001966.1	NP_001001966.1	Q8NHC5	O14AG_HUMAN	olfactory receptor, family 14, subfamily A, member 16	298						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L298L(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						TCAACATCCCCAGAGCCACCT	0.358																																					Ovarian(112;180 1586 15073 21914 33526)	Ovarian(112;180 1586 15073 21914 33526)	uc001idm.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(892-894)CTG>CTA		olfactory receptor, family 14, subfamily A,							59.0	57.0	58.0					1																	247978138		2203	4300	6503	SO:0001819	synonymous_variant	284532				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247978138C>T	BK004366	CCDS31097.1	1q44	2012-08-09	2008-04-02	2008-04-02	ENSG00000196772	ENSG00000196772		"""GPCR / Class A : Olfactory receptors"""	15022	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily AT, member 1"""	OR5AT1			Standard	NM_001001966		Approved		uc001idm.1	Q8NHC5	OTTHUMG00000040199	ENST00000357627.1:c.894G>A	1.37:g.247978138C>T							p.L298L	NM_001001966	NP_001001966	Q8NHC5	O14AG_HUMAN			1	894	-			298			Cytoplasmic (Potential).		Q6IF96	Silent	SNP	ENST00000357627.1	37	c.894G>A	CCDS31097.1																																																																																				0.358	OR14A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096856.1	NM_001001966		23	43	0	0	0	0.005443	0	23	43				
OR2M3	127062	broad.mit.edu	37	1	248366414	248366414	+	Silent	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr1:248366414G>T	ENST00000456743.1	+	1	83	c.45G>T	c.(43-45)ctG>ctT	p.L15L		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	15						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L15L(1)		endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TCATCCTCCTGGGAATCTTCA	0.463																																							uc010pzg.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(43-45)CTG>CTT		olfactory receptor, family 2, subfamily M,							217.0	219.0	218.0					1																	248366414		2203	4300	6503	SO:0001819	synonymous_variant	127062				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248366414G>T		CCDS31107.1	1q44	2012-08-09		2004-03-10	ENSG00000228198	ENSG00000228198		"""GPCR / Class A : Olfactory receptors"""	8269	protein-coding gene	gene with protein product				OR2M6, OR2M3P			Standard	NM_001004689		Approved	OST003	uc010pzg.2	Q8NG83	OTTHUMG00000040459	ENST00000456743.1:c.45G>T	1.37:g.248366414G>T							p.L15L	NM_001004689	NP_001004689	Q8NG83	OR2M3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	45	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		15			Extracellular (Potential).		B9EH06|Q6IEY0	Silent	SNP	ENST00000456743.1	37	c.45G>T	CCDS31107.1																																																																																				0.463	OR2M3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097355.1	NM_001004689		36	206	1	0	8.16277e-20	0.006999	1.41636e-19	36	206				
OR2T33	391195	broad.mit.edu	37	1	248436676	248436676	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr1:248436676C>A	ENST00000318021.2	-	1	462	c.441G>T	c.(439-441)tgG>tgT	p.W147C		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	147						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.W147C(1)		NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CACCCAGGAGCCAACACGACA	0.592																																							uc010pzi.1		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(439-441)TGG>TGT		olfactory receptor, family 2, subfamily T,							140.0	133.0	135.0					1																	248436676		2203	4300	6503	SO:0001583	missense	391195				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248436676C>A		CCDS31109.1	1q44	2012-08-09			ENSG00000177212	ENSG00000177212		"""GPCR / Class A : Olfactory receptors"""	31255	protein-coding gene	gene with protein product							Standard	NM_001004695		Approved		uc010pzi.2	Q8NG76	OTTHUMG00000040458	ENST00000318021.2:c.441G>T	1.37:g.248436676C>A	ENSP00000324687:p.Trp147Cys						p.W147C	NM_001004695	NP_001004695	Q8NG76	O2T33_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	441	-	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		147			Helical; Name=4; (Potential).		B2RNN0	Missense_Mutation	SNP	ENST00000318021.2	37	c.441G>T	CCDS31109.1	.	.	.	.	.	.	.	.	.	.	-	7.749	0.702963	0.15172	.	.	ENSG00000177212	ENST00000318021	T	0.59638	0.25	2.7	1.59	0.23543	GPCR, rhodopsin-like superfamily (1);	0.000000	0.33346	U	0.005019	T	0.73273	0.3566	M	0.80982	2.52	0.45867	D	0.998724	D	0.89917	1.0	D	0.97110	1.0	T	0.77343	-0.2623	10	0.87932	D	0	.	10.9769	0.47472	0.0:0.8078:0.1922:0.0	.	147	Q8NG76	O2T33_HUMAN	C	147	ENSP00000324687:W147C	ENSP00000324687:W147C	W	-	3	0	OR2T33	246503299	0.018000	0.18449	0.052000	0.19188	0.006000	0.05464	0.654000	0.24918	1.437000	0.47472	0.494000	0.49563	TGG		0.592	OR2T33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097354.1	NM_001004695		24	93	1	0	1.55469e-16	0.00333	2.58778e-16	24	93				
OR2T33	391195	broad.mit.edu	37	1	248436752	248436752	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr1:248436752G>T	ENST00000318021.2	-	1	386	c.365C>A	c.(364-366)gCg>gAg	p.A122E		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	122						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A122E(1)		NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			GCAGACAGCCGCATAGCGGTC	0.612																																							uc010pzi.1		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(364-366)GCG>GAG		olfactory receptor, family 2, subfamily T,							43.0	40.0	41.0					1																	248436752		2202	4296	6498	SO:0001583	missense	391195				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248436752G>T		CCDS31109.1	1q44	2012-08-09			ENSG00000177212	ENSG00000177212		"""GPCR / Class A : Olfactory receptors"""	31255	protein-coding gene	gene with protein product							Standard	NM_001004695		Approved		uc010pzi.2	Q8NG76	OTTHUMG00000040458	ENST00000318021.2:c.365C>A	1.37:g.248436752G>T	ENSP00000324687:p.Ala122Glu						p.A122E	NM_001004695	NP_001004695	Q8NG76	O2T33_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	365	-	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		122			Cytoplasmic (Potential).		B2RNN0	Missense_Mutation	SNP	ENST00000318021.2	37	c.365C>A	CCDS31109.1	.	.	.	.	.	.	.	.	.	.	-	7.222	0.597580	0.13875	.	.	ENSG00000177212	ENST00000318021	T	0.02177	4.41	2.7	1.5	0.22942	GPCR, rhodopsin-like superfamily (1);	0.549627	0.13490	U	0.384078	T	0.03095	0.0091	L	0.49126	1.545	0.22911	N	0.998576	B	0.34313	0.448	B	0.34038	0.174	T	0.35649	-0.9780	10	0.72032	D	0.01	.	9.5413	0.39252	0.8928:0.0:0.1072:0.0	.	122	Q8NG76	O2T33_HUMAN	E	122	ENSP00000324687:A122E	ENSP00000324687:A122E	A	-	2	0	OR2T33	246503375	0.003000	0.15002	0.123000	0.21794	0.001000	0.01503	1.920000	0.40025	-0.125000	0.11703	-1.480000	0.00990	GCG		0.612	OR2T33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097354.1	NM_001004695		5	78	1	0	5.18039e-06	0.00308	6.17778e-06	5	78				
OR14I1	401994	broad.mit.edu	37	1	248845177	248845177	+	Silent	SNP	T	T	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr1:248845177T>A	ENST00000342623.3	-	1	452	c.429A>T	c.(427-429)gcA>gcT	p.A143A		NM_001004734.1	NP_001004734.1	A6ND48	O14I1_HUMAN	olfactory receptor, family 14, subfamily I, member 1	143						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A143A(1)		NS(1)|breast(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	35						AGGTGGTGACTGCCATCTGAT	0.532																																							uc001ieu.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(427-429)GCA>GCT		olfactory receptor, family 14, subfamily I,							95.0	81.0	86.0					1																	248845177		2203	4300	6503	SO:0001819	synonymous_variant	401994				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248845177T>A		CCDS31125.1	1q44	2012-08-09	2008-04-02	2008-04-02	ENSG00000189181	ENSG00000189181		"""GPCR / Class A : Olfactory receptors"""	19575	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily BU, member 1"""	OR5BU1P, OR5BU1			Standard	NM_001004734		Approved		uc001ieu.1	A6ND48	OTTHUMG00000040378	ENST00000342623.3:c.429A>T	1.37:g.248845177T>A							p.A143A	NM_001004734	NP_001004734	A6ND48	O14I1_HUMAN			1	429	-			143			Helical; Name=4; (Potential).			Silent	SNP	ENST00000342623.3	37	c.429A>T	CCDS31125.1																																																																																				0.532	OR14I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097128.1	NM_001004734		3	17	0	0	0	0.004672	0	3	17				
ZNF692	55657	broad.mit.edu	37	1	249144510	249144510	+	Nonsense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr1:249144510C>A	ENST00000306601.4	-	12	1625	c.1459G>T	c.(1459-1461)Gag>Tag	p.E487*	ZNF692_ENST00000366471.3_Nonsense_Mutation_p.E442*|ZNF692_ENST00000427146.1_Nonsense_Mutation_p.E442*|ZNF692_ENST00000451251.1_Nonsense_Mutation_p.E492*|ZNF692_ENST00000366469.5_Nonsense_Mutation_p.E486*	NM_017865.3	NP_060335.2	Q9BU19	ZN692_HUMAN	zinc finger protein 692	487					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E487*(1)		endometrium(3)|large_intestine(6)|lung(7)|stomach(1)	17	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			GGACAGGGCTCTAGGGGACCA	0.622																																							uc001ifc.1		NA																	1	Substitution - Nonsense(1)		lung(1)		0						c.(1459-1461)GAG>TAG		zinc finger protein 692 isoform 2							98.0	107.0	104.0					1																	249144510		2203	4300	6503	SO:0001587	stop_gained	55657				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:249144510C>A	BC002948	CCDS31127.1, CCDS44348.1, CCDS53487.1	1q44	2013-01-08			ENSG00000171163	ENSG00000171163		"""Zinc fingers, C2H2-type"""	26049	protein-coding gene	gene with protein product						12477932	Standard	NM_001136036		Approved	FLJ20531, Zfp692	uc001ifc.2	Q9BU19	OTTHUMG00000040423	ENST00000306601.4:c.1459G>T	1.37:g.249144510C>A	ENSP00000305483:p.Glu487*					ZNF692_uc001iez.1_Nonsense_Mutation_p.E209*|ZNF692_uc001ifa.1_Nonsense_Mutation_p.E209*|ZNF692_uc001ifb.1_Nonsense_Mutation_p.E283*|ZNF692_uc001ifd.1_Nonsense_Mutation_p.E486*|ZNF692_uc001ife.1_RNA|ZNF692_uc001iff.1_Nonsense_Mutation_p.E442*|ZNF692_uc010pzr.1_Nonsense_Mutation_p.E492*	p.E487*	NM_017865	NP_060335	Q9BU19	ZN692_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00805)		12	1626	-	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	487					B4DXZ0|Q5SRA5|Q5SRA6|Q9HBC9|Q9NW93|Q9NWY6|Q9UF97	Nonsense_Mutation	SNP	ENST00000306601.4	37	c.1459G>T	CCDS31127.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.9|22.9	4.343679|4.343679	0.82022|0.82022	.|.	.|.	ENSG00000171163|ENSG00000171163	ENST00000306601;ENST00000427146;ENST00000366470;ENST00000366471;ENST00000366469;ENST00000451251|ENST00000476503	.|.	.|.	.|.	4.4|4.4	4.4|4.4	0.53042|0.53042	.|.	1.449860|.	0.04297|.	N|.	0.346610|.	.|T	.|0.69477	.|0.3115	.|.	.|.	.|.	0.41399|0.41399	D|D	0.98766|0.98766	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.69105	.|-0.5233	.|4	0.54805|.	T|.	0.06|.	-2.5654|-2.5654	14.8733|14.8733	0.70474|0.70474	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|I	487;442;315;442;486;492|240	.|.	ENSP00000305483:E487X|.	E|R	-|-	1|2	0|0	ZNF692|ZNF692	247111133|247111133	0.000000|0.000000	0.05858|0.05858	0.044000|0.044000	0.18714|0.18714	0.060000|0.060000	0.15804|0.15804	0.230000|0.230000	0.17852|0.17852	2.450000|2.450000	0.82876|0.82876	0.655000|0.655000	0.94253|0.94253	GAG|AGA		0.622	ZNF692-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000097298.1	NM_017865		18	120	1	0	6.33239e-15	0.010504	1.02077e-14	18	120				
CELF2	10659	broad.mit.edu	37	10	11299787	11299787	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr10:11299787C>A	ENST00000379261.4	+	5	561	c.469C>A	c.(469-471)Cag>Aag	p.Q157K	CELF2_ENST00000609692.1_Missense_Mutation_p.Q133K|CELF2_ENST00000542579.1_Missense_Mutation_p.Q164K|CELF2_ENST00000450189.1_Missense_Mutation_p.Q164K|CELF2_ENST00000417956.2_Missense_Mutation_p.Q133K|CELF2_ENST00000427450.1_Missense_Mutation_p.Q133K|CELF2_ENST00000354440.2_Missense_Mutation_p.Q133K|CELF2_ENST00000315874.4_Missense_Mutation_p.Q133K|CELF2_ENST00000354897.3_Missense_Mutation_p.Q133K|CELF2_ENST00000537122.1_Missense_Mutation_p.Q46K|CELF2_ENST00000399850.3_Missense_Mutation_p.Q133K|CELF2_ENST00000608830.1_Missense_Mutation_p.Q133K|CELF2_ENST00000416382.2_Missense_Mutation_p.Q157K	NM_001025077.2	NP_001020248.1	O95319	CELF2_HUMAN	CUGBP, Elav-like family member 2	157	Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion.|RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|regulation of heart contraction (GO:0008016)|RNA processing (GO:0006396)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.Q152K(1)|p.Q157K(1)		breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	16						TCCATTTGGCCAGATAGAAGA	0.478																																							uc001iki.3		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(469-471)CAG>AAG		CUG triplet repeat, RNA binding protein 2							103.0	106.0	105.0					10																	11299787		2018	4203	6221	SO:0001583	missense	10659				mRNA processing|regulation of heart contraction	cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding	g.chr10:11299787C>A	U69546	CCDS41488.1, CCDS44354.1, CCDS44355.1, CCDS44356.1	10p13	2013-02-12	2010-02-19	2010-02-19	ENSG00000048740	ENSG00000048740		"""RNA binding motif (RRM) containing"""	2550	protein-coding gene	gene with protein product		602538	"""CUG triplet repeat, RNA-binding protein 2"", ""CUG triplet repeat, RNA binding protein 2"""	CUGBP2		7869393, 9887331	Standard	NM_006561		Approved	Etr-3, NAPOR-2, BRUNOL3	uc001ikl.4	O95319	OTTHUMG00000017668	ENST00000379261.4:c.469C>A	10.37:g.11299787C>A	ENSP00000368563:p.Gln157Lys					CELF2_uc010qbi.1_5'UTR|CELF2_uc010qbj.1_Missense_Mutation_p.Q157K|CELF2_uc001ikk.2_Missense_Mutation_p.Q164K|CELF2_uc001ikl.3_Missense_Mutation_p.Q164K|CELF2_uc010qbk.1_RNA|CELF2_uc010qbl.1_Missense_Mutation_p.Q133K|CELF2_uc010qbm.1_5'UTR|CELF2_uc001iko.3_Missense_Mutation_p.Q133K|CELF2_uc001ikp.3_Missense_Mutation_p.Q133K|CELF2_uc010qbn.1_Missense_Mutation_p.Q141K|CELF2_uc009xiw.1_3'UTR|CELF2_uc010qbo.1_Missense_Mutation_p.Q46K|CELF2_uc010qbp.1_5'UTR	p.Q157K	NM_001025077	NP_001020248	O95319	CELF2_HUMAN			5	561	+			157			Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion.|RRM 2.		B7ZAN9|Q7KYU4|Q8N499|Q92950|Q96NW9|Q96RQ5|Q96RQ6|Q9UL67	Missense_Mutation	SNP	ENST00000379261.4	37	c.469C>A	CCDS44354.1	.	.	.	.	.	.	.	.	.	.	C	32	5.179716	0.94846	.	.	ENSG00000048740	ENST00000379261;ENST00000416382;ENST00000450189;ENST00000542579;ENST00000399850;ENST00000417956;ENST00000315874;ENST00000354440;ENST00000354897;ENST00000427450;ENST00000537122	T;T;T;T;T;T;T;T;T;T	0.14766	2.48;2.48;2.48;2.48;2.48;2.48;2.48;2.48;2.48;2.48	5.49	5.49	0.81192	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.19805	0.0476	N	0.04768	-0.165	0.80722	D	1	D;D;D;D;D;D	0.64830	0.973;0.994;0.967;0.973;0.992;0.973	D;D;D;D;D;D	0.74348	0.975;0.983;0.954;0.967;0.971;0.975	T	0.37842	-0.9688	10	0.36615	T	0.2	-9.8028	19.3698	0.94480	0.0:1.0:0.0:0.0	.	141;157;152;164;152;157	B4DDE7;B4DS31;B2RA86;E9PC62;O95319-3;O95319	.;.;.;.;.;CELF2_HUMAN	K	157;157;164;164;133;133;133;133;133;133;46	ENSP00000368563:Q157K;ENSP00000406451:Q157K;ENSP00000389951:Q164K;ENSP00000443926:Q164K;ENSP00000382743:Q133K;ENSP00000404834:Q133K;ENSP00000315328:Q133K;ENSP00000346426:Q133K;ENSP00000388530:Q133K;ENSP00000438884:Q46K	ENSP00000315328:Q133K	Q	+	1	0	CELF2	11339793	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.723000	0.84788	2.555000	0.86185	0.655000	0.94253	CAG		0.478	CELF2-201	KNOWN	basic|CCDS	protein_coding	protein_coding				21	38	1	0	1.55795e-14	0.001882	2.48396e-14	21	38				
DHTKD1	55526	broad.mit.edu	37	10	12131102	12131102	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr10:12131102C>T	ENST00000263035.4	+	5	897	c.835C>T	c.(835-837)Ctc>Ttc	p.L279F	DHTKD1_ENST00000465617.1_Intron	NM_018706.5	NP_061176	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain containing 1	279					cell death (GO:0008219)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hematopoietic progenitor cell differentiation (GO:0002244)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)	p.L279F(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			GCACCATCCCCTCCATGTGAC	0.597																																							uc001ild.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(835-837)CTC>TTC		dehydrogenase E1 and transketolase domain							128.0	106.0	114.0					10																	12131102		2203	4300	6503	SO:0001583	missense	55526				glycolysis	mitochondrion	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr10:12131102C>T	BC002477	CCDS7087.1	10p14	2003-11-24			ENSG00000181192	ENSG00000181192			23537	protein-coding gene	gene with protein product		614984				10997877	Standard	NM_018706		Approved	KIAA1630, MGC3090, DKFZP762M115	uc001ild.5	Q96HY7	OTTHUMG00000017677	ENST00000263035.4:c.835C>T	10.37:g.12131102C>T	ENSP00000263035:p.Leu279Phe						p.L279F	NM_018706	NP_061176	Q96HY7	DHTK1_HUMAN	BRCA - Breast invasive adenocarcinoma(52;0.188)		5	934	+		Renal(717;0.228)	279					Q68CU5|Q9BUM8|Q9HCE2	Missense_Mutation	SNP	ENST00000263035.4	37	c.835C>T	CCDS7087.1	.	.	.	.	.	.	.	.	.	.	C	14.02	2.411916	0.42817	.	.	ENSG00000181192	ENST00000263035;ENST00000437298	T;T	0.14266	2.52;2.52	5.43	5.43	0.79202	Dehydrogenase, E1 component (1);	0.115896	0.64402	D	0.000013	T	0.24661	0.0598	M	0.70595	2.14	0.54753	D	0.999983	B	0.30664	0.289	B	0.41813	0.367	T	0.02797	-1.1109	10	0.87932	D	0	-10.4097	11.2837	0.49210	0.1322:0.7237:0.1441:0.0	.	279	Q96HY7	DHTK1_HUMAN	F	279;214	ENSP00000263035:L279F;ENSP00000388163:L214F	ENSP00000263035:L279F	L	+	1	0	DHTKD1	12171108	0.885000	0.30320	0.977000	0.42913	0.270000	0.26580	1.611000	0.36879	2.543000	0.85770	0.563000	0.77884	CTC		0.597	DHTKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046777.1	NM_018706		19	53	0	0	0	0.007413	0	19	53				
CUBN	8029	broad.mit.edu	37	10	16957942	16957942	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr10:16957942C>A	ENST00000377833.4	-	46	7153	c.7088G>T	c.(7087-7089)tGt>tTt	p.C2363F		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2363	CUB 17. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)	p.C2363F(1)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ATGCCACTCACAGAATAAGTT	0.448																																							uc001ioo.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19						c.(7087-7089)TGT>TTT		cubilin precursor	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						101.0	102.0	101.0					10																	16957942		2203	4300	6503	SO:0001583	missense	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:16957942C>A	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.7088G>T	10.37:g.16957942C>A	ENSP00000367064:p.Cys2363Phe						p.C2363F	NM_001081	NP_001072	O60494	CUBN_HUMAN			46	7140	-			2363			CUB 17.		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	c.7088G>T	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.523371	0.85600	.	.	ENSG00000107611	ENST00000377833	T	0.66280	-0.2	5.62	5.62	0.85841	CUB (5);	0.000000	0.51477	D	0.000093	D	0.87896	0.6293	H	0.98199	4.17	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91958	0.5576	10	0.87932	D	0	.	19.7315	0.96183	0.0:1.0:0.0:0.0	.	2363	O60494	CUBN_HUMAN	F	2363	ENSP00000367064:C2363F	ENSP00000367064:C2363F	C	-	2	0	CUBN	16997948	1.000000	0.71417	0.997000	0.53966	0.873000	0.50193	7.291000	0.78721	2.689000	0.91719	0.644000	0.83932	TGT		0.448	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		14	45	1	0	6.94344e-10	0.006122	9.60243e-10	14	45				
CUBN	8029	broad.mit.edu	37	10	17152917	17152917	+	Splice_Site	SNP	C	C	A	rs192997971		TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr10:17152917C>A	ENST00000377833.4	-	9	1081		c.e9+1			NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)						cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)	p.?(1)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CGAGGCAGCACCTGGTGGACA	0.502																																							uc001ioo.2		NA																	1	Unknown(1)		lung(1)	ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19						c.e9+1		cubilin precursor	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						88.0	86.0	87.0					10																	17152917		2203	4300	6503	SO:0001630	splice_region_variant	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:17152917C>A	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.1015+1G>T	10.37:g.17152917C>A							p.G339_splice	NM_001081	NP_001072	O60494	CUBN_HUMAN			9	1067	-								B0YIZ4|Q5VTA6|Q96RU9	Splice_Site	SNP	ENST00000377833.4	37	c.1015_splice	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.628931	0.87560	.	.	ENSG00000107611	ENST00000377833	.	.	.	5.73	5.73	0.89815	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8983	0.96975	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CUBN	17192923	1.000000	0.71417	1.000000	0.80357	0.840000	0.47671	7.481000	0.81124	2.718000	0.92993	0.650000	0.86243	.		0.502	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081	Intron	22	56	1	0	8.24728e-16	0.004656	1.3551e-15	22	56				
ST8SIA6	338596	broad.mit.edu	37	10	17363209	17363209	+	Nonsense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr10:17363209C>A	ENST00000377602.4	-	8	939	c.865G>T	c.(865-867)Gag>Tag	p.E289*		NM_001004470.1	NP_001004470.1	P61647	SIA8F_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6	289					carbohydrate biosynthetic process (GO:0016051)|cellular protein metabolic process (GO:0044267)|ganglioside biosynthetic process (GO:0001574)|glycolipid biosynthetic process (GO:0009247)|glycoprotein metabolic process (GO:0009100)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|protein O-linked glycosylation (GO:0006493)|sialylation (GO:0097503)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	sialyltransferase activity (GO:0008373)	p.E289*(2)		endometrium(3)|kidney(3)|large_intestine(4)|liver(1)|lung(24)|ovary(1)|skin(1)	37						GCTTTAGACTCTTCGAGCGTG	0.448																																							uc001ipd.2		NA																	2	Substitution - Nonsense(2)		lung(2)	ovary(1)	1						c.(865-867)GAG>TAG		ST8 alpha-N-acetyl-neuraminide							151.0	158.0	156.0					10																	17363209		2203	4300	6503	SO:0001587	stop_gained	338596				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	g.chr10:17363209C>A		CCDS31158.1	10p13	2013-03-01	2005-02-07	2005-02-07	ENSG00000148488	ENSG00000148488		"""Sialyltransferases"""	23317	protein-coding gene	gene with protein product	"""ST8Sia VI"""	610139	"""sialyltransferase 8F (alpha-2, 8-sialyltransferase)"""	SIAT8F		11980897	Standard	XR_242697		Approved		uc001ipd.3	P61647	OTTHUMG00000017748	ENST00000377602.4:c.865G>T	10.37:g.17363209C>A	ENSP00000366827:p.Glu289*					ST8SIA6_uc010qce.1_RNA	p.E289*	NM_001004470	NP_001004470	P61647	SIA8F_HUMAN			8	865	-			289			Lumenal (Potential).		B0YJ97|B9EH72|Q5VZH4	Nonsense_Mutation	SNP	ENST00000377602.4	37	c.865G>T	CCDS31158.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.00|19.00	3.742086|3.742086	0.69418|0.69418	.|.	.|.	ENSG00000148488|ENSG00000148488	ENST00000377610;ENST00000377602|ENST00000440449	.|.	.|.	.|.	5.18|5.18	2.02|2.02	0.26589|0.26589	.|.	0.518919|.	0.23171|.	N|.	0.051138|.	.|T	.|0.45677	.|0.1354	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.26744	.|-1.0094	.|4	0.15499|.	T|.	0.54|.	-3.9716|-3.9716	3.0286|3.0286	0.06099|0.06099	0.1757:0.5512:0.1277:0.1453|0.1757:0.5512:0.1277:0.1453	.|.	.|.	.|.	.|.	X|I	119;289|109	.|.	ENSP00000366827:E289X|.	E|R	-|-	1|2	0|0	ST8SIA6|ST8SIA6	17403215|17403215	0.374000|0.374000	0.25081|0.25081	0.000000|0.000000	0.03702|0.03702	0.471000|0.471000	0.32888|0.32888	1.463000|1.463000	0.35277|0.35277	0.300000|0.300000	0.22699|0.22699	0.650000|0.650000	0.86243|0.86243	GAG|AGA		0.448	ST8SIA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047036.1	NM_001004470		46	111	1	0	8.20599e-20	0.002852	1.42144e-19	46	111				
ST8SIA6	338596	broad.mit.edu	37	10	17365138	17365138	+	Silent	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr10:17365138G>T	ENST00000377602.4	-	7	728	c.654C>A	c.(652-654)acC>acA	p.T218T		NM_001004470.1	NP_001004470.1	P61647	SIA8F_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6	218					carbohydrate biosynthetic process (GO:0016051)|cellular protein metabolic process (GO:0044267)|ganglioside biosynthetic process (GO:0001574)|glycolipid biosynthetic process (GO:0009247)|glycoprotein metabolic process (GO:0009100)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|protein O-linked glycosylation (GO:0006493)|sialylation (GO:0097503)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	sialyltransferase activity (GO:0008373)	p.T218T(1)		endometrium(3)|kidney(3)|large_intestine(4)|liver(1)|lung(24)|ovary(1)|skin(1)	37						CATCTCCTGTGGTTGGGGGTA	0.353																																							uc001ipd.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(652-654)ACC>ACA		ST8 alpha-N-acetyl-neuraminide							155.0	145.0	148.0					10																	17365138		2203	4300	6503	SO:0001819	synonymous_variant	338596				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	g.chr10:17365138G>T		CCDS31158.1	10p13	2013-03-01	2005-02-07	2005-02-07	ENSG00000148488	ENSG00000148488		"""Sialyltransferases"""	23317	protein-coding gene	gene with protein product	"""ST8Sia VI"""	610139	"""sialyltransferase 8F (alpha-2, 8-sialyltransferase)"""	SIAT8F		11980897	Standard	XR_242697		Approved		uc001ipd.3	P61647	OTTHUMG00000017748	ENST00000377602.4:c.654C>A	10.37:g.17365138G>T						ST8SIA6_uc010qce.1_RNA	p.T218T	NM_001004470	NP_001004470	P61647	SIA8F_HUMAN			7	654	-			218			Lumenal (Potential).		B0YJ97|B9EH72|Q5VZH4	Silent	SNP	ENST00000377602.4	37	c.654C>A	CCDS31158.1	.	.	.	.	.	.	.	.	.	.	G	5.322	0.244831	0.10077	.	.	ENSG00000148488	ENST00000440449	.	.	.	5.12	0.63	0.17693	.	.	.	.	.	T	0.25121	0.0610	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.25257	-1.0137	4	.	.	.	-14.8553	5.6497	0.17610	0.1986:0.0:0.3109:0.4905	.	.	.	.	N	39	.	.	H	-	1	0	ST8SIA6	17405144	0.000000	0.05858	0.986000	0.45419	0.845000	0.48019	-0.447000	0.06828	0.022000	0.15160	0.563000	0.77884	CAC		0.353	ST8SIA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047036.1	NM_001004470		14	81	1	0	3.52763e-06	0.00499	4.2315e-06	14	81				
SLC39A12	221074	broad.mit.edu	37	10	18242435	18242435	+	Missense_Mutation	SNP	G	G	A	rs374008416		TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr10:18242435G>A	ENST00000377369.2	+	2	503	c.230G>A	c.(229-231)aGg>aAg	p.R77K	SLC39A12_ENST00000377374.4_Missense_Mutation_p.R77K|SLC39A12_ENST00000539911.1_Intron|SLC39A12_ENST00000377371.3_Missense_Mutation_p.R77K	NM_001145195.1|NM_001282733.1|NM_001282734.1	NP_001138667.1|NP_001269662.1|NP_001269663.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	77					regulation of microtubule polymerization (GO:0031113)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)|zinc ion transmembrane import (GO:0071578)	integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	zinc ion transmembrane transporter activity (GO:0005385)	p.R77K(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						TGCCCACGGAGGAGAAACGGA	0.483																																							uc001ipo.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(229-231)AGG>AAG		solute carrier family 39 (zinc transporter),							68.0	66.0	67.0					10																	18242435		2203	4300	6503	SO:0001583	missense	221074				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity	g.chr10:18242435G>A		CCDS7124.1, CCDS44362.1, CCDS60493.1, CCDS60494.1	10p12.33	2013-05-22			ENSG00000148482	ENSG00000148482		"""Solute carriers"""	20860	protein-coding gene	gene with protein product		608734	"""solute carrier family 39 (metal ion transporter), member 12"""			12659941	Standard	NM_152725		Approved	FLJ30499	uc001ipo.2	Q504Y0	OTTHUMG00000017759	ENST00000377369.2:c.230G>A	10.37:g.18242435G>A	ENSP00000366586:p.Arg77Lys					SLC39A12_uc001ipn.2_Missense_Mutation_p.R77K|SLC39A12_uc001ipp.2_Missense_Mutation_p.R77K|SLC39A12_uc010qck.1_Intron	p.R77K	NM_001145195	NP_001138667	Q504Y0	S39AC_HUMAN			2	503	+			77			Extracellular (Potential).		B7ZL35|C9JJL4|Q49AN8|Q4G0L3|Q5VWV8|Q5VWV9|Q6NZY5|Q96NN4	Missense_Mutation	SNP	ENST00000377369.2	37	c.230G>A	CCDS44362.1	.	.	.	.	.	.	.	.	.	.	G	8.314	0.822699	0.16678	.	.	ENSG00000148482	ENST00000377369;ENST00000377374;ENST00000377371	T;T;T	0.22539	1.95;1.95;1.95	5.87	0.227	0.15359	.	0.525534	0.21561	N	0.072577	T	0.20495	0.0493	M	0.67953	2.075	0.09310	N	1	P;P;P	0.52061	0.95;0.917;0.95	P;B;P	0.47430	0.547;0.345;0.547	T	0.09143	-1.0688	10	0.30078	T	0.28	-6.6762	1.7077	0.02885	0.1959:0.1183:0.442:0.2439	.	77;77;77	Q504Y0-4;Q504Y0;Q504Y0-3	.;S39AC_HUMAN;.	K	77	ENSP00000366586:R77K;ENSP00000366591:R77K;ENSP00000366588:R77K	ENSP00000366586:R77K	R	+	2	0	SLC39A12	18282441	0.480000	0.25933	0.490000	0.27465	0.483000	0.33249	2.021000	0.41020	0.389000	0.25086	-0.181000	0.13052	AGG		0.483	SLC39A12-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_152725		7	22	0	0	0	0.00308	0	7	22				
SLC39A12	221074	broad.mit.edu	37	10	18280107	18280107	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr10:18280107C>A	ENST00000377369.2	+	8	1570	c.1297C>A	c.(1297-1299)Cca>Aca	p.P433T	SLC39A12_ENST00000377374.4_Missense_Mutation_p.P433T|SLC39A12_ENST00000539911.1_Missense_Mutation_p.P299T|SLC39A12_ENST00000377371.3_Missense_Mutation_p.P433T	NM_001145195.1|NM_001282733.1|NM_001282734.1	NP_001138667.1|NP_001269662.1|NP_001269663.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	433					regulation of microtubule polymerization (GO:0031113)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)|zinc ion transmembrane import (GO:0071578)	integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	zinc ion transmembrane transporter activity (GO:0005385)	p.P433T(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						GCAGGAAGCCCCAGAATTTGG	0.343																																							uc001ipo.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(1297-1299)CCA>ACA		solute carrier family 39 (zinc transporter),							83.0	86.0	85.0					10																	18280107		2203	4300	6503	SO:0001583	missense	221074				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity	g.chr10:18280107C>A		CCDS7124.1, CCDS44362.1, CCDS60493.1, CCDS60494.1	10p12.33	2013-05-22			ENSG00000148482	ENSG00000148482		"""Solute carriers"""	20860	protein-coding gene	gene with protein product		608734	"""solute carrier family 39 (metal ion transporter), member 12"""			12659941	Standard	NM_152725		Approved	FLJ30499	uc001ipo.2	Q504Y0	OTTHUMG00000017759	ENST00000377369.2:c.1297C>A	10.37:g.18280107C>A	ENSP00000366586:p.Pro433Thr					SLC39A12_uc001ipn.2_Missense_Mutation_p.P433T|SLC39A12_uc001ipp.2_Missense_Mutation_p.P433T|SLC39A12_uc010qck.1_Missense_Mutation_p.P299T	p.P433T	NM_001145195	NP_001138667	Q504Y0	S39AC_HUMAN			8	1570	+			433			Cytoplasmic (Potential).		B7ZL35|C9JJL4|Q49AN8|Q4G0L3|Q5VWV8|Q5VWV9|Q6NZY5|Q96NN4	Missense_Mutation	SNP	ENST00000377369.2	37	c.1297C>A	CCDS44362.1	.	.	.	.	.	.	.	.	.	.	C	4.453	0.083935	0.08583	.	.	ENSG00000148482	ENST00000377369;ENST00000377374;ENST00000377371;ENST00000539911;ENST00000425219	T;T;T;T	0.44881	0.91;0.91;0.91;0.91	5.31	0.47	0.16747	.	.	.	.	.	T	0.16300	0.0392	N	0.04880	-0.145	0.09310	N	1	B;B;B	0.18166	0.026;0.005;0.007	B;B;B	0.21917	0.035;0.037;0.018	T	0.26258	-1.0108	9	0.14252	T	0.57	0.0092	1.3384	0.02149	0.165:0.4122:0.1645:0.2583	.	433;433;433	Q504Y0-4;Q504Y0;Q504Y0-3	.;S39AC_HUMAN;.	T	433;433;433;299;353	ENSP00000366586:P433T;ENSP00000366591:P433T;ENSP00000366588:P433T;ENSP00000440445:P299T	ENSP00000366586:P433T	P	+	1	0	SLC39A12	18320113	0.062000	0.20869	0.261000	0.24466	0.983000	0.72400	0.481000	0.22260	0.112000	0.17975	-0.143000	0.13931	CCA		0.343	SLC39A12-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_152725		21	59	1	0	6.44725e-10	0.002299	8.94042e-10	21	59				
GPR158	57512	broad.mit.edu	37	10	25886831	25886831	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr10:25886831C>A	ENST00000376351.3	+	11	2635	c.2276C>A	c.(2275-2277)aCg>aAg	p.T759K	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	759					protein localization to plasma membrane (GO:0072659)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.T759K(1)|p.T759M(1)		breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						AGACGCATTACGGAGATCCCA	0.527																																							uc001isj.2		NA																	2	Substitution - Missense(2)	p.T759M(1)	lung(1)|pancreas(1)	ovary(4)|large_intestine(2)|pancreas(1)|skin(1)	8						c.(2275-2277)ACG>AAG		G protein-coupled receptor 158 precursor							102.0	114.0	110.0					10																	25886831		2203	4300	6503	SO:0001583	missense	57512					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr10:25886831C>A	AB032962	CCDS31166.1	10p12.31	2012-08-21			ENSG00000151025	ENSG00000151025		"""GPCR / Class C : Orphans"""	23689	protein-coding gene	gene with protein product		614573					Standard	NM_020752		Approved	KIAA1136	uc001isj.3	Q5T848	OTTHUMG00000017832	ENST00000376351.3:c.2276C>A	10.37:g.25886831C>A	ENSP00000365529:p.Thr759Lys					GPR158_uc001isk.2_Missense_Mutation_p.T134K	p.T759K	NM_020752	NP_065803	Q5T848	GP158_HUMAN			11	2336	+			759			Cytoplasmic (Potential).		Q6QR81|Q9ULT3	Missense_Mutation	SNP	ENST00000376351.3	37	c.2276C>A	CCDS31166.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.825537	0.90955	.	.	ENSG00000151025	ENST00000376351	T	0.63417	-0.04	5.54	5.54	0.83059	.	0.000000	0.64402	D	0.000003	T	0.77170	0.4091	L	0.59436	1.845	0.80722	D	1	D	0.76494	0.999	D	0.71870	0.975	T	0.77874	-0.2425	10	0.62326	D	0.03	.	19.4771	0.94994	0.0:1.0:0.0:0.0	.	759	Q5T848	GP158_HUMAN	K	759	ENSP00000365529:T759K	ENSP00000365529:T759K	T	+	2	0	GPR158	25926837	1.000000	0.71417	0.692000	0.30179	0.625000	0.37756	7.487000	0.81328	2.606000	0.88127	0.650000	0.86243	ACG		0.527	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047248.2	XM_166110		33	58	1	0	2.81731e-10	0.002096	3.93884e-10	33	58				
YME1L1	10730	broad.mit.edu	37	10	27437936	27437936	+	Missense_Mutation	SNP	A	A	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr10:27437936A>T	ENST00000326799.3	-	2	215	c.67T>A	c.(67-69)Ttc>Atc	p.F23I	YME1L1_ENST00000376016.3_Missense_Mutation_p.F23I|YME1L1_ENST00000375972.3_Missense_Mutation_p.F23I|YME1L1_ENST00000477432.1_Missense_Mutation_p.F23I	NM_139312.2	NP_647473.1	Q96TA2	YMEL1_HUMAN	YME1-like 1 ATPase	23					cell proliferation (GO:0008283)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|mitochondrion organization (GO:0007005)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)	p.F23I(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						GGTGTATGGAAGGCATTGATG	0.368																																							uc001iti.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(67-69)TTC>ATC		YME1-like 1 isoform 1							213.0	214.0	214.0					10																	27437936		2203	4300	6503	SO:0001583	missense	10730				protein catabolic process|proteolysis	membrane|mitochondrion	ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity	g.chr10:27437936A>T	AJ132637	CCDS7151.1, CCDS7152.1, CCDS58072.1	10p14	2013-06-10	2013-06-10		ENSG00000136758	ENSG00000136758		"""ATPases / AAA-type"""	12843	protein-coding gene	gene with protein product		607472	"""YME1 (S.cerevisiae)-like 1"", ""YME1-like 1 (S. cerevisiae)"""			22262461	Standard	NM_139312		Approved		uc001itj.3	Q96TA2	OTTHUMG00000017853	ENST00000326799.3:c.67T>A	10.37:g.27437936A>T	ENSP00000318480:p.Phe23Ile					YME1L1_uc001itj.2_Missense_Mutation_p.F23I|YME1L1_uc010qdl.1_Missense_Mutation_p.F23I|YME1L1_uc009xkv.2_RNA|YME1L1_uc001itk.1_Missense_Mutation_p.F23I	p.F23I	NM_139312	NP_647473	Q96TA2	YMEL1_HUMAN			2	249	-			23					B4DNM1|D3DRV8|D3DRV9|Q5T8D9|Q9H1Q0|Q9UMR9	Missense_Mutation	SNP	ENST00000326799.3	37	c.67T>A	CCDS7152.1	.	.	.	.	.	.	.	.	.	.	A	18.18	3.566025	0.65651	.	.	ENSG00000136758	ENST00000376016;ENST00000326799;ENST00000375969;ENST00000375972;ENST00000427324;ENST00000396296	D;D;D	0.94138	-3.22;-3.36;-3.31	5.49	5.49	0.81192	Peptidase M41, FtsH (1);	0.046952	0.85682	D	0.000000	D	0.93841	0.8030	N	0.24115	0.695	0.44000	D	0.996702	B;D;B;P	0.89917	0.039;1.0;0.4;0.512	B;D;B;B	0.79108	0.014;0.992;0.075;0.162	D	0.94994	0.8137	10	0.72032	D	0.01	-14.5731	15.603	0.76639	1.0:0.0:0.0:0.0	.	23;23;23;23	B4DNM1;Q6PJ89;Q96TA2-2;Q96TA2	.;.;.;YMEL1_HUMAN	I	23;23;23;23;23;15	ENSP00000365184:F23I;ENSP00000318480:F23I;ENSP00000365139:F23I	ENSP00000318480:F23I	F	-	1	0	YME1L1	27477942	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.082000	0.64450	2.086000	0.62901	0.533000	0.62120	TTC		0.368	YME1L1-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047306.1	NM_139312		12	234	0	0	0	0.00499	0	12	234				
ZNF438	220929	broad.mit.edu	37	10	31138374	31138374	+	Silent	SNP	T	T	A	rs376119294		TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr10:31138374T>A	ENST00000361310.3	-	6	1289	c.960A>T	c.(958-960)ccA>ccT	p.P320P	ZNF438_ENST00000452305.1_Silent_p.P310P|ZNF438_ENST00000375311.1_Splice_Site|ZNF438_ENST00000538351.2_Silent_p.P271P|ZNF438_ENST00000436087.2_Silent_p.P320P|ZNF438_ENST00000444692.2_Silent_p.P310P|ZNF438_ENST00000413025.1_Silent_p.P320P|ZNF438_ENST00000331737.6_Silent_p.P310P|ZNF438_ENST00000442986.1_Silent_p.P320P			Q7Z4V0	ZN438_HUMAN	zinc finger protein 438	320					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P320P(1)		breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(175;0.0587)				CCTTAGGTCCTGGTAAAGAAA	0.473																																							uc010qdz.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|breast(1)	2						c.(958-960)CCA>CCT		zinc finger protein 438 isoform a							120.0	116.0	117.0					10																	31138374		2203	4300	6503	SO:0001819	synonymous_variant	220929				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:31138374T>A	AK057323	CCDS7168.1, CCDS44369.1, CCDS53504.1	10p11.23	2006-02-15			ENSG00000183621	ENSG00000183621		"""Zinc fingers, C2H2-type"""	21029	protein-coding gene	gene with protein product							Standard	NM_182755		Approved	bA330O11.1	uc010qeb.2	Q7Z4V0	OTTHUMG00000017904	ENST00000361310.3:c.960A>T	10.37:g.31138374T>A						ZNF438_uc001ivn.2_Silent_p.P271P|ZNF438_uc010qdy.1_Silent_p.P310P|ZNF438_uc001ivo.3_Splice_Site|ZNF438_uc009xlg.2_Silent_p.P320P|ZNF438_uc001ivp.3_Silent_p.P310P|ZNF438_uc010qea.1_Silent_p.P320P|ZNF438_uc010qeb.1_Silent_p.P320P|ZNF438_uc010qec.1_Intron	p.P320P	NM_182755	NP_877432	Q7Z4V0	ZN438_HUMAN			7	1395	-		Prostate(175;0.0587)	320					A2A3J4|A8K9L5|Q5T426|Q658Q4|Q6ZN65	Silent	SNP	ENST00000361310.3	37	c.960A>T	CCDS7168.1	.	.	.	.	.	.	.	.	.	.	T	3.588	-0.084261	0.07097	.	.	ENSG00000183621	ENST00000430896	.	.	.	5.73	-4.6	0.03390	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.4438	0.04501	0.2825:0.4351:0.1522:0.1301	.	.	.	.	.	-1	.	.	.	-	.	.	ZNF438	31178380	0.000000	0.05858	0.002000	0.10522	0.001000	0.01503	0.064000	0.14437	-0.618000	0.05656	-0.417000	0.06048	.		0.473	ZNF438-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277006.1	NM_182755		36	80	0	0	0	0.002836	0	36	80				
ZNF33A	7581	broad.mit.edu	37	10	38344464	38344464	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr10:38344464G>A	ENST00000458705.2	+	5	1567	c.1409G>A	c.(1408-1410)tGt>tAt	p.C470Y	ZNF33A_ENST00000469037.2_Intron|ZNF33A_ENST00000432900.2_Missense_Mutation_p.C477Y|ZNF33A_ENST00000374618.3_Missense_Mutation_p.C471Y|ZNF33A_ENST00000307441.9_Missense_Mutation_p.C470Y			Q06730	ZN33A_HUMAN	zinc finger protein 33A	470					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.C470Y(1)		cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						CCTTTTGAATGTCTTGAGTGT	0.383																																							uc001izh.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(1408-1410)TGT>TAT		zinc finger protein 33A isoform b							60.0	59.0	60.0					10																	38344464		2203	4300	6503	SO:0001583	missense	7581					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:38344464G>A	D31763	CCDS31182.1, CCDS60514.1, CCDS73088.1, CCDS73089.1	10p11.2	2013-01-08	2005-03-18		ENSG00000189180	ENSG00000189180		"""Zinc fingers, C2H2-type"", ""-"""	13096	protein-coding gene	gene with protein product	"""zinc finger and ZAK associated protein with KRAB domain"""	194521	"""zinc finger protein 33a (KOX 31)"", ""zinc finger protein 11A"""	ZNF33, ZNF11A		2014798, 8464732	Standard	NM_006974		Approved	KOX5, KOX31, KIAA0065, FLJ23404, ZZAPK	uc031pui.1	Q06730	OTTHUMG00000017983	ENST00000458705.2:c.1409G>A	10.37:g.38344464G>A	ENSP00000387713:p.Cys470Tyr					ZNF33A_uc001izg.2_Missense_Mutation_p.C471Y|ZNF33A_uc010qev.1_Missense_Mutation_p.C477Y|ZNF33A_uc001izi.1_Intron	p.C470Y	NM_006974	NP_008905	Q06730	ZN33A_HUMAN			5	1587	+			470			C2H2-type 6.		A8K9X9|B4E0M8|F6TH33|F8WAJ5|P17013|Q5VZ86	Missense_Mutation	SNP	ENST00000458705.2	37	c.1409G>A	CCDS31182.1	.	.	.	.	.	.	.	.	.	.	G	15.54	2.864778	0.51482	.	.	ENSG00000189180	ENST00000374618;ENST00000432900;ENST00000458705;ENST00000307441	D;D;D;D	0.85088	-1.94;-1.94;-1.94;-1.94	2.05	2.05	0.26809	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.34291	N	0.004084	D	0.93628	0.7965	H	0.96518	3.835	0.33467	D	0.58569	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	D	0.94578	0.7777	10	0.87932	D	0	.	9.6894	0.40118	0.0:0.0:1.0:0.0	.	477;470;471	F6TH33;Q06730;F8WAJ5	.;ZN33A_HUMAN;.	Y	471;477;470;470	ENSP00000363747:C471Y;ENSP00000402467:C477Y;ENSP00000387713:C470Y;ENSP00000304268:C470Y	ENSP00000304268:C470Y	C	+	2	0	ZNF33A	38384470	1.000000	0.71417	0.963000	0.40424	0.927000	0.56198	6.450000	0.73477	1.117000	0.41842	0.460000	0.39030	TGT		0.383	ZNF33A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047614.1	NM_006974		5	37	0	0	0	0.000602	0	5	37				
RBP3	5949	broad.mit.edu	37	10	48387881	48387881	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr10:48387881C>A	ENST00000224600.4	-	1	3110	c.2997G>T	c.(2995-2997)aaG>aaT	p.K999N	AL731561.2_ENST00000581861.1_RNA	NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	999	4 X approximate tandem repeats.				lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transport (GO:0006810)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|interphotoreceptor matrix (GO:0033165)|vesicle (GO:0031982)	retinal binding (GO:0016918)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|serine-type peptidase activity (GO:0008236)	p.K999N(1)		central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	TATGGGCTGCCTTCAGGTGTG	0.617																																							uc001jez.2		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(1)|central_nervous_system(1)	2						c.(2995-2997)AAG>AAT		retinol-binding protein 3 precursor	Vitamin A(DB00162)						104.0	108.0	107.0					10																	48387881		2203	4300	6503	SO:0001583	missense	5949				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity	g.chr10:48387881C>A	M22453	CCDS73119.1	10q11.2	2014-05-06	2001-11-28		ENSG00000107618	ENSG00000265203			9921	protein-coding gene	gene with protein product		180290	"""retinol-binding protein 3, interstitial"""				Standard	NM_002900		Approved	D10S64, D10S65, D10S66, RP66	uc001jez.3	P10745	OTTHUMG00000188321	ENST00000224600.4:c.2997G>T	10.37:g.48387881C>A	ENSP00000224600:p.Lys999Asn						p.K999N	NM_002900	NP_002891	P10745	RET3_HUMAN			1	3111	-			999			4 X approximate tandem repeats.|4.		Q0QD34|Q5VSR0|Q8IXN0	Missense_Mutation	SNP	ENST00000224600.4	37	c.2997G>T	CCDS7218.1	.	.	.	.	.	.	.	.	.	.	C	13.05	2.122147	0.37436	.	.	ENSG00000107618	ENST00000224600	T	0.63913	-0.07	5.56	2.64	0.31445	.	0.089482	0.85682	D	0.000000	T	0.69531	0.3121	M	0.65498	2.005	0.51767	D	0.99993	D	0.65815	0.995	P	0.58660	0.843	T	0.68228	-0.5464	10	0.66056	D	0.02	-45.1647	8.3789	0.32459	0.0:0.6458:0.0:0.3542	.	999	P10745	RET3_HUMAN	N	999	ENSP00000224600:K999N	ENSP00000224600:K999N	K	-	3	2	RBP3	48007887	0.997000	0.39634	0.953000	0.39169	0.983000	0.72400	0.714000	0.25808	0.297000	0.22615	0.655000	0.94253	AAG		0.617	RBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047888.1	NM_002900		28	63	1	0	2.12542e-12	0.00632	3.2038e-12	28	63				
PCDH15	65217	broad.mit.edu	37	10	55570366	55570366	+	Nonsense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr10:55570366C>A	ENST00000373965.2	-	35	4847	c.4453G>T	c.(4453-4455)Gaa>Taa	p.E1485*	PCDH15_ENST00000409834.1_Missense_Mutation_p.R1112S|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395438.1_Missense_Mutation_p.R1501S|PCDH15_ENST00000395445.1_Nonsense_Mutation_p.E1485*|PCDH15_ENST00000414778.1_Nonsense_Mutation_p.E1482*|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395446.1_Intron	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	0					equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)	p.E1482*(1)|p.R1501S(1)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TCACCATATTCCTCCTGTCCA	0.368										HNSCC(58;0.16)																													uc010qhs.1		NA																	2	Substitution - Missense(1)|Substitution - Nonsense(1)		lung(2)	pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13						c.(4468-4470)GAA>TAA		protocadherin 15 isoform CD2-1 precursor							178.0	164.0	169.0					10																	55570366		1568	3582	5150	SO:0001587	stop_gained	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55570366C>A	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000373965.2:c.4453G>T	10.37:g.55570366C>A	ENSP00000363076:p.Glu1485*	HNSCC(58;0.16)				PCDH15_uc010qhq.1_Nonsense_Mutation_p.E1483*|PCDH15_uc010qhr.1_Nonsense_Mutation_p.E1478*|PCDH15_uc010qht.1_Nonsense_Mutation_p.E1483*|PCDH15_uc010qhu.1_Missense_Mutation_p.R1501S	p.E1490*	NM_001142769	NP_001136241	Q96QU1	PCD15_HUMAN			36	4863	-		Melanoma(3;0.117)|Lung SC(717;0.238)	Error:Variant_position_missing_in_Q96QU1_after_alignment					A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Nonsense_Mutation	SNP	ENST00000373965.2	37	c.4468G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	47|47	13.345684|13.345684	0.99736|0.99736	.|.	.|.	ENSG00000150275|ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395445|ENST00000395438;ENST00000409834	.|T;T	.|0.58506	.|0.37;0.33	6.16|6.16	6.16|6.16	0.99307|0.99307	.|.	.|.	.|.	.|.	.|.	.|T	.|0.55752	.|0.1940	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|B	.|0.26672	.|0.156	.|B	.|0.24541	.|0.054	.|T	.|0.53187	.|-0.8474	.|8	0.34782|0.87932	T|D	0.22|0	.|.	19.6313|19.6313	0.95704|0.95704	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1501	.|A2A3E3	.|.	X|S	1485;1482;1478;1485|1501;1112	.|ENSP00000378826:R1501S;ENSP00000386693:R1112S	ENSP00000363076:E1485X|ENSP00000378826:R1501S	E|R	-|-	1|3	0|2	PCDH15|PCDH15	55240372|55240372	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.659000|0.659000	0.38960|0.38960	6.440000|6.440000	0.73435|0.73435	2.937000|2.937000	0.99478|0.99478	0.650000|0.650000	0.86243|0.86243	GAA|AGG		0.368	PCDH15-008	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000291336.1	NM_033056		8	111	1	0	0.00448238	0.004482	0.00478183	8	111				
PCDH15	65217	broad.mit.edu	37	10	56138550	56138550	+	Missense_Mutation	SNP	C	C	G			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr10:56138550C>G	ENST00000320301.6	-	4	704	c.310G>C	c.(310-312)Gat>Cat	p.D104H	PCDH15_ENST00000373955.1_Missense_Mutation_p.D104H|PCDH15_ENST00000395432.2_Missense_Mutation_p.D104H|PCDH15_ENST00000373957.3_Missense_Mutation_p.D82H|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395440.1_Missense_Mutation_p.D104H|PCDH15_ENST00000437009.1_Missense_Mutation_p.D104H|PCDH15_ENST00000395438.1_Missense_Mutation_p.D104H|PCDH15_ENST00000395445.1_Missense_Mutation_p.D104H|PCDH15_ENST00000361849.3_Missense_Mutation_p.D104H|PCDH15_ENST00000414778.1_Missense_Mutation_p.D109H|PCDH15_ENST00000395442.1_Missense_Mutation_p.D104H|PCDH15_ENST00000395433.1_Missense_Mutation_p.D82H|PCDH15_ENST00000373965.2_Missense_Mutation_p.D104H|PCDH15_ENST00000395446.1_Missense_Mutation_p.D104H|PCDH15_ENST00000395430.1_Missense_Mutation_p.D104H	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	104	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)	p.D109H(2)|p.D104H(2)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				ACATCTCTATCCAGAACTCTT	0.328										HNSCC(58;0.16)																													uc001jju.1		NA																	4	Substitution - Missense(4)		lung(4)	pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13						c.(310-312)GAT>CAT		protocadherin 15 isoform CD1-4 precursor							90.0	95.0	93.0					10																	56138550		2203	4300	6503	SO:0001583	missense	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:56138550C>G	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.310G>C	10.37:g.56138550C>G	ENSP00000322604:p.Asp104His	HNSCC(58;0.16)				PCDH15_uc010qhq.1_Missense_Mutation_p.D109H|PCDH15_uc010qhr.1_Missense_Mutation_p.D104H|PCDH15_uc010qhs.1_Missense_Mutation_p.D109H|PCDH15_uc010qht.1_Missense_Mutation_p.D104H|PCDH15_uc010qhu.1_Missense_Mutation_p.D104H|PCDH15_uc001jjv.1_Missense_Mutation_p.D82H|PCDH15_uc010qhv.1_Missense_Mutation_p.D104H|PCDH15_uc010qhw.1_Missense_Mutation_p.D104H|PCDH15_uc010qhx.1_Missense_Mutation_p.D104H|PCDH15_uc010qhy.1_Missense_Mutation_p.D109H|PCDH15_uc010qhz.1_Missense_Mutation_p.D104H|PCDH15_uc010qia.1_Missense_Mutation_p.D82H|PCDH15_uc010qib.1_Missense_Mutation_p.D82H|PCDH15_uc001jjw.2_Missense_Mutation_p.D104H	p.D104H	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN			4	705	-		Melanoma(3;0.117)|Lung SC(717;0.238)	104			Cadherin 1.|Extracellular (Potential).		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	c.310G>C	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.803691	0.90623	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000395445;ENST00000395446;ENST00000395442;ENST00000395440;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000373957;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009;ENST00000373955	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.75154	-0.48;-0.42;-0.72;-0.51;-0.25;0.1;0.05;-0.85;-0.9;-0.76;-0.13;-0.91;-0.91;-0.8;-0.47	5.5	5.5	0.81552	Cadherin (1);	.	.	.	.	T	0.81927	0.4926	L	0.36672	1.1	0.58432	D	0.999997	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97110	0.999;0.999;0.999;0.999;0.999;0.999;0.999;0.999;0.999;0.997;0.999;0.999;1.0;0.999;0.999	T	0.83170	-0.0094	9	0.66056	D	0.02	.	18.9828	0.92761	0.0:1.0:0.0:0.0	.	82;104;104;109;104;104;104;104;104;104;104;109;104;82;104	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1-3;A2A3D8;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	H	104;109;104;104;104;104;104;104;104;104;82;82;104;104;109;104;104	ENSP00000363076:D104H;ENSP00000410304:D109H;ENSP00000378826:D104H;ENSP00000378832:D104H;ENSP00000378833:D104H;ENSP00000378829:D104H;ENSP00000378827:D104H;ENSP00000378820:D104H;ENSP00000354950:D104H;ENSP00000378821:D82H;ENSP00000363068:D82H;ENSP00000322604:D104H;ENSP00000378818:D104H;ENSP00000412628:D104H;ENSP00000363066:D104H	ENSP00000322604:D104H	D	-	1	0	PCDH15	55808556	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.805000	0.86005	2.611000	0.88343	0.643000	0.83706	GAT		0.328	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		6	68	0	0	0	0.00308	0	6	68				
RUFY2	55680	broad.mit.edu	37	10	70154087	70154087	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr10:70154087G>C	ENST00000602465.1	-	5	620	c.520C>G	c.(520-522)Caa>Gaa	p.Q174E	RUFY2_ENST00000342616.4_Missense_Mutation_p.Q174E|RUFY2_ENST00000454950.2_Missense_Mutation_p.Q116E|RUFY2_ENST00000388768.2_Missense_Mutation_p.Q209E|RUFY2_ENST00000472394.2_5'UTR|RUFY2_ENST00000399200.2_Missense_Mutation_p.Q140E			Q8WXA3	RUFY2_HUMAN	RUN and FYVE domain containing 2	223	RUN. {ECO:0000255|PROSITE- ProRule:PRU00178}.					nucleus (GO:0005634)	metal ion binding (GO:0046872)	p.Q209E(1)		NS(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)	20						TCACTTACTTGTGAGTCTAAA	0.423																																							uc001job.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(625-627)CAA>GAA		RUN and FYVE domain-containing 2 isoform a							183.0	175.0	177.0					10																	70154087		2042	4203	6245	SO:0001583	missense	55680					nucleus	metal ion binding	g.chr10:70154087G>C	AF461266	CCDS41534.1, CCDS44414.1, CCDS60544.1	10q22.2	2007-01-29			ENSG00000204130	ENSG00000204130		"""Zinc fingers, FYVE domain containing"""	19761	protein-coding gene	gene with protein product		610328				11877430	Standard	NM_001042417		Approved	RABIP4R, FLJ10063, KIAA1537, ZFYVE13	uc001job.3	Q8WXA3	OTTHUMG00000018353	ENST00000602465.1:c.520C>G	10.37:g.70154087G>C	ENSP00000473462:p.Gln174Glu					RUFY2_uc001jnz.1_RNA|RUFY2_uc001joc.2_Missense_Mutation_p.Q140E|RUFY2_uc010qiw.1_Missense_Mutation_p.Q116E|RUFY2_uc001jod.1_Missense_Mutation_p.Q174E|RUFY2_uc009xpv.1_Missense_Mutation_p.Q57E|RUFY2_uc001joe.1_Missense_Mutation_p.Q174E	p.Q209E	NM_017987	NP_060457	Q8WXA3	RUFY2_HUMAN			5	952	-			223					B3KXB2|B4DFR0|Q5TC48|Q8IW33|Q96P51|Q9P1Z1	Missense_Mutation	SNP	ENST00000602465.1	37	c.625C>G		.	.	.	.	.	.	.	.	.	.	G	20.8	4.058107	0.76074	.	.	ENSG00000204130	ENST00000388768;ENST00000399200;ENST00000454950;ENST00000342616	T;T;T;T	0.55760	0.5;1.69;1.27;1.44	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.75620	0.3874	M	0.82823	2.61	0.80722	D	1	P;B;P;P;P	0.52577	0.719;0.047;0.815;0.954;0.919	P;B;P;D;P	0.67900	0.563;0.013;0.747;0.954;0.813	T	0.78036	-0.2361	10	0.72032	D	0.01	.	19.3116	0.94189	0.0:0.0:1.0:0.0	.	116;174;174;140;209	B4DFR0;Q5TC51;Q8WXA3-2;Q8WXA3-4;Q8WXA3-3	.;.;.;.;.	E	209;140;116;174	ENSP00000373420:Q209E;ENSP00000382151:Q140E;ENSP00000404986:Q116E;ENSP00000341727:Q174E	ENSP00000341727:Q174E	Q	-	1	0	RUFY2	69824093	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.646000	0.98474	2.808000	0.96608	0.650000	0.86243	CAA		0.423	RUFY2-010	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000467567.1	NM_017987		13	22	0	0	0	0.00245	0	13	22				
TET1	80312	broad.mit.edu	37	10	70332883	70332883	+	Missense_Mutation	SNP	A	A	G			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr10:70332883A>G	ENST00000373644.4	+	2	997	c.788A>G	c.(787-789)cAa>cGa	p.Q263R		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	263					chromatin modification (GO:0016568)|DNA demethylation (GO:0080111)|inner cell mass cell differentiation (GO:0001826)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of DNA methylation (GO:0044030)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	iron ion binding (GO:0005506)|methylcytosine dioxygenase activity (GO:0070579)|structure-specific DNA binding (GO:0043566)|zinc ion binding (GO:0008270)	p.Q263R(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						GTTACCTCTCAAGGAAACCCC	0.433																																							uc001jok.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|lung(2)|prostate(1)|breast(1)	9						c.(787-789)CAA>CGA		CXXC finger 6							66.0	69.0	68.0					10																	70332883		2203	4300	6503	SO:0001583	missense	80312				DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding	g.chr10:70332883A>G	AF430147	CCDS7281.1	10q21	2014-02-18	2011-09-30	2008-03-12	ENSG00000138336	ENSG00000138336			29484	protein-coding gene	gene with protein product	"""leukemia-associated protein with a CXXC domain"", ""ten-eleven translocation-1"""	607790	"""CXXC zinc finger 6"", ""tet oncogene 1"""	CXXC6		12124344, 12646957	Standard	NM_030625		Approved	LCX, KIAA1676, bA119F7.1	uc001jok.4	Q8NFU7	OTTHUMG00000018359	ENST00000373644.4:c.788A>G	10.37:g.70332883A>G	ENSP00000362748:p.Gln263Arg						p.Q263R	NM_030625	NP_085128	Q8NFU7	TET1_HUMAN			2	1293	+			263					Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	Missense_Mutation	SNP	ENST00000373644.4	37	c.788A>G	CCDS7281.1	.	.	.	.	.	.	.	.	.	.	A	13.06	2.124515	0.37533	.	.	ENSG00000138336	ENST00000373644	T	0.06768	3.26	5.53	4.37	0.52481	.	0.812655	0.10634	N	0.651766	T	0.06645	0.0170	N	0.14661	0.345	0.24971	N	0.991669	B	0.19331	0.035	B	0.17433	0.018	T	0.35919	-0.9769	10	0.66056	D	0.02	.	10.651	0.45649	0.8394:0.1606:0.0:0.0	.	263	Q8NFU7	TET1_HUMAN	R	263	ENSP00000362748:Q263R	ENSP00000362748:Q263R	Q	+	2	0	TET1	70002889	0.924000	0.31332	0.789000	0.31954	0.992000	0.81027	2.727000	0.47311	0.886000	0.36113	0.460000	0.39030	CAA		0.433	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048354.1	NM_030625		9	64	0	0	0	0.000978	0	9	64				
C10orf105	414152	broad.mit.edu	37	10	73468918	73468918	+	IGR	SNP	G	G	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr10:73468918G>A	ENST00000441508.2	-	0	4837				CDH23_ENST00000224721.6_Missense_Mutation_p.G1062D	NM_001164375.2	NP_001157847.1	Q8TEF2	CJ105_HUMAN	chromosome 10 open reading frame 105							integral component of membrane (GO:0016021)		p.G1062D(1)									ACCGTGGTGGGCCTGGACCGG	0.612																																							uc001jrx.3		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(5)|large_intestine(4)|ovary(2)	11						c.(3169-3171)GGC>GAC		cadherin-like 23 isoform 1 precursor							92.0	114.0	107.0					10																	73468918		2137	4244	6381	SO:0001628	intergenic_variant	64072				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	g.chr10:73468918G>A	AK074172	CCDS44430.1	10q22.1	2012-06-01			ENSG00000214688	ENSG00000214688			20304	protein-coding gene	gene with protein product							Standard	NM_001164375		Approved	FLJ00245	uc001jsa.2	Q8TEF2	OTTHUMG00000018427		10.37:g.73468918G>A						CDH23_uc001jrz.2_Missense_Mutation_p.G673D	p.G1057D	NM_022124	NP_071407	Q9H251	CAD23_HUMAN			26	3547	+			1057			Cadherin 10.|Extracellular (Potential).			Missense_Mutation	SNP	ENST00000441508.2	37	c.3170G>A	CCDS44430.1	.	.	.	.	.	.	.	.	.	.	G	10.32	1.318392	0.23994	.	.	ENSG00000107736	ENST00000398860;ENST00000398855;ENST00000398828;ENST00000224721;ENST00000442677	.	.	.	4.97	1.52	0.23074	Cadherin (4);Cadherin-like (1);	0.457361	0.21991	N	0.066147	T	0.38427	0.1040	L	0.31926	0.97	0.80722	D	1	P;B	0.35307	0.494;0.091	B;B	0.39339	0.297;0.063	T	0.05920	-1.0856	9	0.13108	T	0.6	.	9.0369	0.36293	0.4323:0.0:0.5677:0.0	.	1057;1057	Q6P152;Q9H251	.;CAD23_HUMAN	D	1062;1057;1057;1060;574	.	ENSP00000224721:G1062D	G	+	2	0	CDH23	73138924	0.997000	0.39634	0.997000	0.53966	0.806000	0.45545	1.039000	0.30266	0.485000	0.27652	-0.145000	0.13849	GGC		0.612	C10orf105-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048551.2	NM_001164375		3	45	0	0	0	0.004672	0	3	45				
MCU	90550	broad.mit.edu	37	10	74628615	74628615	+	Silent	SNP	G	G	C			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr10:74628615G>C	ENST00000373053.3	+	5	672	c.651G>C	c.(649-651)ctG>ctC	p.L217L	MCU_ENST00000605416.1_3'UTR|MCU_ENST00000536019.1_Silent_p.L168L|MCU_ENST00000357157.6_Intron	NM_138357.2	NP_612366.1	Q8NE86	MCU_HUMAN	mitochondrial calcium uniporter	217					calcium ion transmembrane import into mitochondrion (GO:0036444)|calcium-mediated signaling (GO:0019722)|glucose homeostasis (GO:0042593)|mitochondrial calcium ion transport (GO:0006851)|positive regulation of insulin secretion (GO:0032024)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|protein complex oligomerization (GO:0035786)	calcium channel complex (GO:0034704)|integral component of mitochondrial inner membrane (GO:0031305)|mitochondrial inner membrane (GO:0005743)|uniplex complex (GO:1990246)	calcium channel activity (GO:0005262)|uniporter activity (GO:0015292)	p.L217L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(1)	14						TGGCTCCCCTGGAAAAGGTAA	0.388																																							uc001jtc.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(649-651)CTG>CTC		coiled-coil domain containing 109A							69.0	65.0	67.0					10																	74628615		2203	4300	6503	SO:0001819	synonymous_variant	90550				elevation of mitochondrial calcium ion concentration|mitochondrial calcium ion transport|protein complex oligomerization	integral to membrane|mitochondrial inner membrane	protein binding	g.chr10:74628615G>C	BC034235	CCDS7317.1, CCDS59218.1, CCDS59219.1	10q22.2	2011-06-23	2011-06-23	2011-06-23	ENSG00000156026	ENSG00000156026			23526	protein-coding gene	gene with protein product		614197	"""coiled-coil domain containing 109A"""	C10orf42, CCDC109A		21685886, 21685888	Standard	NM_138357		Approved	FLJ46135	uc001jtc.3	Q8NE86	OTTHUMG00000018443	ENST00000373053.3:c.651G>C	10.37:g.74628615G>C						CCDC109A_uc009xqp.1_RNA|CCDC109A_uc009xqq.1_RNA|CCDC109A_uc010qjy.1_RNA|CCDC109A_uc009xqr.2_Intron|CCDC109A_uc001jtd.2_Silent_p.L168L	p.L217L	NM_138357	NP_612366	Q8NE86	MCU_HUMAN			5	672	+	Prostate(51;0.0198)		217			Potential.|Mitochondrial matrix (Potential).		B2RDF3|B3KXV7|Q96FL3	Silent	SNP	ENST00000373053.3	37	c.651G>C	CCDS7317.1																																																																																				0.388	MCU-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048594.1	NM_138357		5	45	0	0	0	0.000602	0	5	45				
DLG5	9231	broad.mit.edu	37	10	79603414	79603414	+	Silent	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr10:79603414C>A	ENST00000372391.2	-	6	920	c.915G>T	c.(913-915)acG>acT	p.T305T	DLG5_ENST00000372388.2_Silent_p.T305T	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	305					apical protein localization (GO:0045176)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|intracellular signal transduction (GO:0035556)|metanephric collecting duct development (GO:0072205)|midbrain development (GO:0030901)|negative regulation of cell proliferation (GO:0008285)|polarized epithelial cell differentiation (GO:0030859)|protein complex assembly (GO:0006461)|protein localization to adherens junction (GO:0071896)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|zonula adherens assembly (GO:0045186)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cytoskeletal protein binding (GO:0008092)|receptor signaling complex scaffold activity (GO:0030159)	p.T305T(1)		breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			TGTCCATGGCCGTGTCATACA	0.542																																							uc001jzk.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(5)|breast(3)	8						c.(913-915)ACG>ACT		discs large homolog 5							188.0	167.0	174.0					10																	79603414		2203	4300	6503	SO:0001819	synonymous_variant	9231				cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity	g.chr10:79603414C>A	U61843	CCDS7353.2	10q23	2008-07-09	2001-11-28		ENSG00000151208	ENSG00000151208			2904	protein-coding gene	gene with protein product		604090	"""discs, large (Drosophila) homolog 5"""			9738934	Standard	XM_005270276		Approved	P-dlg, KIAA0583	uc001jzk.3	Q8TDM6	OTTHUMG00000018548	ENST00000372391.2:c.915G>T	10.37:g.79603414C>A						DLG5_uc001jzj.2_Silent_p.T60T|DLG5_uc009xru.1_RNA|DLG5_uc001jzl.3_5'Flank	p.T305T	NM_004747	NP_004738	Q8TDM6	DLG5_HUMAN	Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)		6	985	-	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		305					A6H8Y3|Q149N1|Q5T1H7|Q5T1H8|Q6DKG3|Q86WC0|Q8TDM7|Q9UE73|Q9Y4E3	Silent	SNP	ENST00000372391.2	37	c.915G>T	CCDS7353.2																																																																																				0.542	DLG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048900.2			19	132	1	0	2.94398e-08	0.007413	3.80373e-08	19	132				
LRIT2	340745	broad.mit.edu	37	10	85982287	85982287	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr10:85982287G>T	ENST00000372113.4	-	3	1047	c.1042C>A	c.(1042-1044)Cag>Aag	p.Q348K	LRIT2_ENST00000538192.1_Missense_Mutation_p.Q358K	NM_001017924.2	NP_001017924.1	A6NDA9	LRIT2_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 2	348						integral component of membrane (GO:0016021)		p.Q348K(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						TGTAGGGCCTGGGCAGGCTGG	0.542																																							uc001kcy.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1042-1044)CAG>AAG		leucine rich repeat containing 22 precursor							90.0	77.0	82.0					10																	85982287		2203	4300	6503	SO:0001583	missense	340745					integral to membrane		g.chr10:85982287G>T		CCDS31234.1, CCDS60581.1	10q23.2	2013-01-11	2007-06-19	2007-06-19	ENSG00000204033	ENSG00000204033		"""Immunoglobulin superfamily / I-set domain containing"""	23443	protein-coding gene	gene with protein product			"""leucine rich repeat containing 22"""	LRRC22			Standard	NM_001017924		Approved	AC022389.4	uc001kcy.3	A6NDA9	OTTHUMG00000018633	ENST00000372113.4:c.1042C>A	10.37:g.85982287G>T	ENSP00000361185:p.Gln348Lys					LRIT2_uc010qmc.1_Missense_Mutation_p.Q358K	p.Q348K	NM_001017924	NP_001017924	A6NDA9	LRIT2_HUMAN			3	1050	-			348					B7ZME6	Missense_Mutation	SNP	ENST00000372113.4	37	c.1042C>A	CCDS31234.1	.	.	.	.	.	.	.	.	.	.	G	0.574	-0.839748	0.02692	.	.	ENSG00000204033	ENST00000372113;ENST00000538192	T;T	0.60299	0.6;0.2	5.26	5.26	0.73747	.	0.574694	0.19010	N	0.125100	T	0.34803	0.0910	N	0.14661	0.345	0.09310	N	1	B;B	0.23442	0.085;0.085	B;B	0.11329	0.006;0.006	T	0.12167	-1.0558	10	0.05351	T	0.99	.	12.7048	0.57054	0.0:0.0:0.8349:0.1651	.	358;348	B7ZME6;A6NDA9	.;LRIT2_HUMAN	K	348;358	ENSP00000361185:Q348K;ENSP00000438264:Q358K	ENSP00000361185:Q348K	Q	-	1	0	LRIT2	85972267	0.000000	0.05858	0.016000	0.15963	0.025000	0.11179	0.638000	0.24674	2.460000	0.83146	0.557000	0.71058	CAG		0.542	LRIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049110.4	XM_291697		4	20	1	0	0.00024832	0.009096	0.000275552	4	20				
GRID1	2894	broad.mit.edu	37	10	87966366	87966366	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr10:87966366G>C	ENST00000327946.7	-	3	360	c.275C>G	c.(274-276)aCg>aGg	p.T92R		NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	92					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|social behavior (GO:0035176)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|ionotropic glutamate receptor complex (GO:0008328)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)	p.T92R(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						GCCAGTGGACGTGACCAAGGC	0.597										Multiple Myeloma(13;0.14)																													uc001kdl.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|upper_aerodigestive_tract(2)|large_intestine(2)|central_nervous_system(1)	10						c.(274-276)ACG>AGG		glutamate receptor, ionotropic, delta 1	L-Glutamic Acid(DB00142)						90.0	59.0	69.0					10																	87966366		2203	4300	6503	SO:0001583	missense	2894					cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	g.chr10:87966366G>C	AB033046	CCDS31236.1	10q22	2012-08-29			ENSG00000182771	ENSG00000182771		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4575	protein-coding gene	gene with protein product		610659					Standard	NM_017551		Approved	GluD1, KIAA1220	uc001kdl.1	Q9ULK0	OTTHUMG00000018650	ENST00000327946.7:c.275C>G	10.37:g.87966366G>C	ENSP00000330148:p.Thr92Arg	Multiple Myeloma(13;0.14)				GRID1_uc009xsu.1_RNA	p.T92R	NM_017551	NP_060021	Q9ULK0	GRID1_HUMAN			3	376	-			92			Extracellular (Potential).		B3KXD5|B7Z7L0|Q8IXT3	Missense_Mutation	SNP	ENST00000327946.7	37	c.275C>G	CCDS31236.1	.	.	.	.	.	.	.	.	.	.	G	19.15	3.772359	0.69992	.	.	ENSG00000182771	ENST00000327946	D	0.82803	-1.65	6.02	4.18	0.49190	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.83285	0.5221	L	0.51422	1.61	0.80722	D	1	D	0.55800	0.973	P	0.51453	0.67	D	0.83708	0.0186	10	0.87932	D	0	.	11.4251	0.50004	0.0676:0.1261:0.8063:0.0	.	92	Q9ULK0	GRID1_HUMAN	R	92	ENSP00000330148:T92R	ENSP00000330148:T92R	T	-	2	0	GRID1	87956346	1.000000	0.71417	0.815000	0.32552	0.985000	0.73830	7.876000	0.87215	0.876000	0.35872	0.650000	0.86243	ACG		0.597	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049148.3	XM_043613		6	17	0	0	0	0.001984	0	6	17				
LIPK	643414	broad.mit.edu	37	10	90497489	90497489	+	Missense_Mutation	SNP	G	G	T	rs201345423		TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr10:90497489G>T	ENST00000404190.1	+	6	767	c.767G>T	c.(766-768)aGc>aTc	p.S256I		NM_001080518.1	NP_001073987.1	Q5VXJ0	LIPK_HUMAN	lipase, family member K	256					lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)	hydrolase activity, acting on ester bonds (GO:0016788)	p.S256I(2)		endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	12		Colorectal(252;0.0381)		Colorectal(12;7.03e-05)|COAD - Colon adenocarcinoma(12;8.33e-05)		CGTATTTGCAGCAACTTCCTA	0.393																																							uc010qmv.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(766-768)AGC>ATC		lipase, family member K precursor							204.0	191.0	195.0					10																	90497489		1874	4111	5985	SO:0001583	missense	643414				lipid catabolic process	extracellular region	hydrolase activity	g.chr10:90497489G>T		CCDS44455.1	10q23.31	2008-02-04	2007-02-27	2007-02-27	ENSG00000204021	ENSG00000204021			23444	protein-coding gene	gene with protein product		613922	"""lipase-like, ab-hydrolase domain containing 2"""	LIPL2			Standard	NM_001080518		Approved	bA186O14.2	uc010qmv.2	Q5VXJ0	OTTHUMG00000018693	ENST00000404190.1:c.767G>T	10.37:g.90497489G>T	ENSP00000383900:p.Ser256Ile						p.S256I	NM_001080518	NP_001073987	Q5VXJ0	LIPK_HUMAN		Colorectal(12;7.03e-05)|COAD - Colon adenocarcinoma(12;8.33e-05)	6	767	+		Colorectal(252;0.0381)	256					A7KIH8	Missense_Mutation	SNP	ENST00000404190.1	37	c.767G>T	CCDS44455.1	.	.	.	.	.	.	.	.	.	.	G	16.94	3.260292	0.59431	.	.	ENSG00000204021	ENST00000404190	T	0.64260	-0.09	5.65	4.71	0.59529	Alpha/beta hydrolase fold-1 (1);	0.207571	0.35067	N	0.003468	T	0.59266	0.2181	M	0.64170	1.965	0.37475	D	0.915768	P	0.44734	0.842	B	0.40199	0.322	T	0.66999	-0.5781	10	0.45353	T	0.12	-19.6717	14.061	0.64800	0.0:0.1501:0.8499:0.0	.	256	Q5VXJ0	LIPK_HUMAN	I	256	ENSP00000383900:S256I	ENSP00000383900:S256I	S	+	2	0	LIPK	90487469	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	2.078000	0.41567	2.941000	0.99782	0.655000	0.94253	AGC		0.393	LIPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049253.2	XM_061222		36	77	1	0	4.65686e-17	0.003755	7.80216e-17	36	77				
CNNM1	26507	broad.mit.edu	37	10	101122153	101122153	+	Splice_Site	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr10:101122153G>T	ENST00000356713.4	+	4	2317	c.2028G>T	c.(2026-2028)caG>caT	p.Q676H	CNNM1_ENST00000370534.4_Splice_Site_p.Q311H|CNNM1_ENST00000370528.3_Splice_Site_p.Q605H|CNNM1_ENST00000446890.1_Splice_Site_p.Q605H	NM_020348.2	NP_065081.2	Q9NRU3	CNNM1_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 1	676					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)	p.Q311H(2)|p.Q676H(1)		NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(5)|ovary(1)|prostate(1)|skin(1)	25		Colorectal(252;0.234)		Epithelial(162;6.82e-10)|all cancers(201;5.62e-08)		TGCTTCTACAGGTGAGTAGGA	0.542																																							uc001kpp.3		NA																	3	Substitution - Missense(3)		lung(2)|breast(1)		0						c.(2026-2028)CAG>CAT		cyclin M1							49.0	47.0	48.0					10																	101122153		2203	4300	6503	SO:0001630	splice_region_variant	26507				ion transport	integral to membrane|plasma membrane		g.chr10:101122153G>T	AF169226	CCDS7478.2	10q24.2	2014-08-08	2014-08-07		ENSG00000119946	ENSG00000119946			102	protein-coding gene	gene with protein product		607802	"""cyclin M1"""	ACDP1		21393841	Standard	NM_020348		Approved		uc001kpp.4	Q9NRU3	OTTHUMG00000018881	ENST00000356713.4:c.2028+1G>T	10.37:g.101122153G>T						CNNM1_uc009xwe.2_Missense_Mutation_p.Q676H|CNNM1_uc010qpi.1_Missense_Mutation_p.Q676H|CNNM1_uc009xwf.2_Missense_Mutation_p.Q676H|CNNM1_uc009xwg.2_Missense_Mutation_p.Q76H	p.Q676H	NM_020348	NP_065081	Q9NRU3	CNNM1_HUMAN		Epithelial(162;6.82e-10)|all cancers(201;5.62e-08)	4	2317	+		Colorectal(252;0.234)	676					Q4QQG7|Q4QQH8|Q4QQP9|Q9NT45	Missense_Mutation	SNP	ENST00000356713.4	37	c.2028G>T	CCDS7478.2	.	.	.	.	.	.	.	.	.	.	G	27.8	4.861637	0.91433	.	.	ENSG00000119946	ENST00000356713;ENST00000446890;ENST00000370528;ENST00000370534;ENST00000545665	D;D;D;T	0.86230	-2.09;-2.05;-1.99;-0.92	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	D	0.92945	0.7755	M	0.67517	2.055	0.80722	D	1	D;D;D;P	0.89917	0.998;1.0;1.0;0.805	D;D;D;P	0.91635	0.968;0.999;0.984;0.453	D	0.93558	0.6892	10	0.87932	D	0	-20.2191	18.877	0.92341	0.0:0.0:1.0:0.0	.	311;676;311;676	F5H5J0;Q9NRU3-2;B7Z5S3;Q9NRU3	.;.;.;CNNM1_HUMAN	H	676;605;605;311;129	ENSP00000349147:Q676H;ENSP00000406492:Q605H;ENSP00000359559:Q605H;ENSP00000359565:Q311H	ENSP00000349147:Q676H	Q	+	3	2	CNNM1	101112143	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.731000	0.98807	2.521000	0.84997	0.655000	0.94253	CAG		0.542	CNNM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049792.2	NM_020348	Missense_Mutation	11	30	1	0	2.80697e-09	0.000978	3.77464e-09	11	30				
PDZD7	79955	broad.mit.edu	37	10	102783789	102783789	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr10:102783789C>A	ENST00000370215.3	-	3	488	c.263G>T	c.(262-264)cGg>cTg	p.R88L	PDZD7_ENST00000470414.1_Missense_Mutation_p.R88L	NM_024895.4	NP_079171.1	Q9H5P4	PDZD7_HUMAN	PDZ domain containing 7	88	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.					cilium (GO:0005929)|extracellular space (GO:0005615)|nucleus (GO:0005634)		p.R88L(2)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)		CTTCTCCACCCGGACTGAATG	0.592																																							uc001kso.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|breast(1)|central_nervous_system(1)	3						c.(262-264)CGG>CTG		PDZ domain containing 7							94.0	82.0	86.0					10																	102783789		2203	4300	6503	SO:0001583	missense	79955					cilium|nucleus	protein binding	g.chr10:102783789C>A	AK026862	CCDS31269.1, CCDS73182.1	10q24.32	2006-01-24		2006-01-24	ENSG00000186862	ENSG00000186862			26257	protein-coding gene	gene with protein product		612971		PDZK7		12477932	Standard	NM_024895		Approved	FLJ23209, bA108L7.8	uc021pxc.1	Q9H5P4	OTTHUMG00000018916	ENST00000370215.3:c.263G>T	10.37:g.102783789C>A	ENSP00000359234:p.Arg88Leu					PDZD7_uc001ksn.2_Missense_Mutation_p.R88L	p.R88L	NM_024895	NP_079171	Q9H5P4	PDZD7_HUMAN		Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)	3	478	-			88			PDZ 1.		D5FJ77|Q8N321	Missense_Mutation	SNP	ENST00000370215.3	37	c.263G>T	CCDS31269.1	.	.	.	.	.	.	.	.	.	.	C	15.47	2.843216	0.51057	.	.	ENSG00000186862	ENST00000393462;ENST00000370215	T	0.27402	1.67	5.07	-0.964	0.10326	PDZ/DHR/GLGF (3);	0.125183	0.52532	D	0.000062	T	0.15609	0.0376	N	0.20986	0.625	0.31396	N	0.677228	B;B	0.23249	0.005;0.082	B;B	0.22753	0.017;0.041	T	0.10474	-1.0628	10	0.30078	T	0.28	.	6.252	0.20852	0.0:0.3484:0.287:0.3646	.	88;88	Q9H5P4;Q9H5P4-2	PDZD7_HUMAN;.	L	88	ENSP00000359234:R88L	ENSP00000359234:R88L	R	-	2	0	PDZD7	102773779	1.000000	0.71417	0.215000	0.23724	0.996000	0.88848	3.779000	0.55379	0.002000	0.14630	0.491000	0.48974	CGG		0.592	PDZD7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049883.1	NM_024895		17	46	1	0	2.48551e-13	0.00499	3.85461e-13	17	46				
PDCD11	22984	broad.mit.edu	37	10	105197799	105197799	+	Silent	SNP	C	C	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr10:105197799C>T	ENST00000369797.3	+	26	3967	c.3873C>T	c.(3871-3873)aaC>aaT	p.N1291N		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	1291	S1 motif 11. {ECO:0000255|PROSITE- ProRule:PRU00180}.				mRNA processing (GO:0006397)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)	p.N1291N(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		CTGCAGACAACGTATTGACTT	0.473																																							uc001kwy.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|breast(2)|skin(2)|central_nervous_system(1)	7						c.(3871-3873)AAC>AAT		programmed cell death 11							268.0	258.0	262.0					10																	105197799		2203	4300	6503	SO:0001819	synonymous_variant	22984				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding	g.chr10:105197799C>T	D80007	CCDS31276.1	10q24.32	2010-07-06			ENSG00000148843	ENSG00000148843			13408	protein-coding gene	gene with protein product		612333				10229231	Standard	XM_005269647		Approved	KIAA0185, ALG-4, RRP5	uc001kwy.1	Q14690	OTTHUMG00000018988	ENST00000369797.3:c.3873C>T	10.37:g.105197799C>T							p.N1291N	NM_014976	NP_055791	Q14690	RRP5_HUMAN		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)	26	3960	+		Colorectal(252;0.0747)|Breast(234;0.128)	1291			S1 motif 11.		Q2TA92|Q5W093|Q6P2J3|Q86VQ8|Q9H4P1	Silent	SNP	ENST00000369797.3	37	c.3873C>T	CCDS31276.1																																																																																				0.473	PDCD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050151.1			57	144	0	0	0	0.00361	0	57	144				
SORCS3	22986	broad.mit.edu	37	10	106737195	106737195	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr10:106737195C>A	ENST00000369701.3	+	4	1125	c.898C>A	c.(898-900)Ctg>Atg	p.L300M		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	300					learning (GO:0007612)|memory (GO:0007613)|neuropeptide signaling pathway (GO:0007218)|regulation of long term synaptic depression (GO:1900452)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal postsynaptic density (GO:0097481)	neuropeptide receptor activity (GO:0008188)	p.L300M(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		TATCCAGAGCCTGCTCTTTCA	0.458																																					NSCLC(116;1497 1690 7108 13108 14106)	NSCLC(116;1497 1690 7108 13108 14106)	uc001kyi.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(3)|central_nervous_system(1)	10						c.(898-900)CTG>ATG		VPS10 domain receptor protein SORCS 3 precursor							119.0	104.0	109.0					10																	106737195		2203	4300	6503	SO:0001583	missense	22986					integral to membrane	neuropeptide receptor activity	g.chr10:106737195C>A	AB028982	CCDS7558.1	10q23-q25	2006-04-12			ENSG00000156395	ENSG00000156395			16699	protein-coding gene	gene with protein product		606285				11499680	Standard	NM_014978		Approved	KIAA1059, SORCS	uc001kyi.1	Q9UPU3	OTTHUMG00000019011	ENST00000369701.3:c.898C>A	10.37:g.106737195C>A	ENSP00000358715:p.Leu300Met						p.L300M	NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)	4	1125	+		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)	300			Lumenal (Potential).		Q5VXF9|Q9NQJ2	Missense_Mutation	SNP	ENST00000369701.3	37	c.898C>A	CCDS7558.1	.	.	.	.	.	.	.	.	.	.	C	18.44	3.623770	0.66901	.	.	ENSG00000156395	ENST00000369701	T	0.25749	1.78	5.6	2.68	0.31781	VPS10 (1);	0.000000	0.64402	D	0.000003	T	0.45577	0.1349	M	0.82056	2.57	0.42499	D	0.992922	D	0.61080	0.989	P	0.60682	0.878	T	0.39143	-0.9628	10	0.51188	T	0.08	.	10.0294	0.42092	0.0:0.7111:0.0:0.2889	.	300	Q9UPU3	SORC3_HUMAN	M	300	ENSP00000358715:L300M	ENSP00000358715:L300M	L	+	1	2	SORCS3	106727185	0.799000	0.28903	0.967000	0.41034	0.997000	0.91878	1.024000	0.30077	0.290000	0.22444	0.563000	0.77884	CTG		0.458	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050221.1	NM_014978		17	45	1	0	1.15919e-05	0.008871	1.36171e-05	17	45				
KCNK18	338567	broad.mit.edu	37	10	118957067	118957067	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr10:118957067G>T	ENST00000334549.1	+	1	68	c.68G>T	c.(67-69)gGc>gTc	p.G23V		NM_181840.1	NP_862823.1	Q7Z418	KCNKI_HUMAN	potassium channel, subfamily K, member 18	23					cellular response to pH (GO:0071467)|potassium ion export (GO:0071435)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium-activated potassium channel activity (GO:0015269)|outward rectifier potassium channel activity (GO:0015271)|potassium channel activity (GO:0005267)	p.G23V(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	41		Colorectal(252;0.19)		all cancers(201;0.0211)		CTCTTCCCTGGCCTCTGCTTC	0.632																																							uc010qsr.1		NA																	2	Substitution - Missense(2)		lung(2)	upper_aerodigestive_tract(1)	1						c.(67-69)GGC>GTC		potassium channel, subfamily K, member 18							82.0	72.0	75.0					10																	118957067		2203	4300	6503	SO:0001583	missense	338567					integral to membrane|plasma membrane		g.chr10:118957067G>T	AB087138	CCDS7598.1	10q26.11	2012-03-07			ENSG00000186795	ENSG00000186795		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	19439	protein-coding gene	gene with protein product	"""TWIK related spinal cord K+ channel"""	613655				16382106	Standard	NM_181840		Approved	K2p18.1, TRESK-2, TRESK2, TRESK, TRIK	uc010qsr.2	Q7Z418	OTTHUMG00000019120	ENST00000334549.1:c.68G>T	10.37:g.118957067G>T	ENSP00000334650:p.Gly23Val						p.G23V	NM_181840	NP_862823	Q7Z418	KCNKI_HUMAN		all cancers(201;0.0211)	1	68	+		Colorectal(252;0.19)	23			Cytoplasmic (Potential).		Q5SQQ8	Missense_Mutation	SNP	ENST00000334549.1	37	c.68G>T	CCDS7598.1	.	.	.	.	.	.	.	.	.	.	G	6.141	0.394178	0.11638	.	.	ENSG00000186795	ENST00000334549	T	0.20738	2.05	4.17	3.27	0.37495	.	0.214881	0.47455	D	0.000236	T	0.10594	0.0259	N	0.14661	0.345	0.41114	D	0.985765	B	0.29716	0.255	B	0.23275	0.045	T	0.13442	-1.0509	10	0.45353	T	0.12	.	8.0058	0.30323	0.1094:0.0:0.8906:0.0	.	23	Q7Z418	KCNKI_HUMAN	V	23	ENSP00000334650:G23V	ENSP00000334650:G23V	G	+	2	0	KCNK18	118947057	0.131000	0.22433	0.432000	0.26747	0.057000	0.15508	1.872000	0.39549	1.350000	0.45770	0.561000	0.74099	GGC		0.632	KCNK18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050562.2	NM_181840		8	48	1	0	0.000157383	0.00308	0.000175596	8	48				
PDZD8	118987	broad.mit.edu	37	10	119044326	119044326	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr10:119044326C>A	ENST00000334464.5	-	5	2157	c.1918G>T	c.(1918-1920)Gat>Tat	p.D640Y	PDZD8_ENST00000482496.1_5'UTR	NM_173791.3	NP_776152.1	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	640					cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|regulation of cell morphogenesis (GO:0022604)|viral process (GO:0016032)	membrane (GO:0016020)	metal ion binding (GO:0046872)	p.D640Y(1)		kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38		Colorectal(252;0.19)		all cancers(201;0.0121)		TCTATGGCATCCACATTTTTT	0.448																																							uc001lde.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1918-1920)GAT>TAT		PDZ domain containing 8							84.0	82.0	82.0					10																	119044326		2203	4300	6503	SO:0001583	missense	118987				intracellular signal transduction		metal ion binding	g.chr10:119044326C>A	AL122051	CCDS7600.1	10q26.12	2006-01-24		2006-01-24	ENSG00000165650	ENSG00000165650			26974	protein-coding gene	gene with protein product		614235		PDZK8		12477932	Standard	NM_173791		Approved	bA129M16.2, FLJ34427	uc001lde.1	Q8NEN9	OTTHUMG00000019122	ENST00000334464.5:c.1918G>T	10.37:g.119044326C>A	ENSP00000334642:p.Asp640Tyr						p.D640Y	NM_173791	NP_776152	Q8NEN9	PDZD8_HUMAN		all cancers(201;0.0121)	5	2117	-		Colorectal(252;0.19)	640					Q86WE0|Q86WE5|Q9UFF1	Missense_Mutation	SNP	ENST00000334464.5	37	c.1918G>T	CCDS7600.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.947146	0.73672	.	.	ENSG00000165650	ENST00000334464	D	0.88354	-2.37	5.93	5.02	0.67125	.	0.104000	0.64402	D	0.000004	D	0.83936	0.5362	L	0.29908	0.895	0.32174	N	0.581256	P	0.44195	0.828	B	0.40782	0.34	D	0.88075	0.2803	10	0.72032	D	0.01	-8.8123	15.533	0.75980	0.0:0.9329:0.0:0.0671	.	640	Q8NEN9	PDZD8_HUMAN	Y	640	ENSP00000334642:D640Y	ENSP00000334642:D640Y	D	-	1	0	PDZD8	119034316	0.965000	0.33210	0.209000	0.23619	0.395000	0.30598	2.988000	0.49386	2.814000	0.96858	0.591000	0.81541	GAT		0.448	PDZD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050565.1	NM_173791		9	60	1	0	5.4927e-09	0.004482	7.29032e-09	9	60				
EMX2	2018	broad.mit.edu	37	10	119305306	119305307	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr10:119305306_119305307CC>AA	ENST00000553456.3	+	2	1394_1395	c.570_571CC>AA	c.(568-573)agCCtc>agAAtc	p.190_191SL>RI	EMX2OS_ENST00000551288.1_RNA|EMX2_ENST00000546446.1_3'UTR|EMX2_ENST00000442245.4_Intron	NM_004098.3	NP_004089.1	Q04743	EMX2_HUMAN	empty spiracles homeobox 2	190					anterior/posterior pattern specification (GO:0009952)|cell proliferation in forebrain (GO:0021846)|cerebral cortex regionalization (GO:0021796)|dentate gyrus development (GO:0021542)|forebrain cell migration (GO:0021885)|neuron differentiation (GO:0030182)|regulation of transcription, DNA-templated (GO:0006355)|renal system development (GO:0072001)|response to drug (GO:0042493)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.S190_L191>RI(1)		endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(2)	12		Colorectal(252;0.109)|Lung NSC(174;0.179)|all_lung(145;0.22)		all cancers(201;0.0133)		TGGCACACAGCCTCAGCCTCAC	0.634																																							uc001ldh.3		NA																	1	Complex - compound substitution(1)		lung(1)		0						c.(568-573)AGCCTC>AGAATC		empty spiracles homeobox 2 isoform 1																																				SO:0001583	missense	2018					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:119305306_119305307CC>AA	AF301598	CCDS7601.1, CCDS53583.1	10q26.11	2011-06-20	2007-02-15		ENSG00000170370	ENSG00000170370		"""Homeoboxes / ANTP class : NKL subclass"""	3341	protein-coding gene	gene with protein product		600035	"""empty spiracles homolog 2 (Drosophila)"""			7959790	Standard	NM_004098		Approved		uc001ldh.4	Q04743	OTTHUMG00000019123	Exception_encountered	10.37:g.119305306_119305307delinsAA	ENSP00000450962:p.S190_L191delinsRI					EMX2OS_uc001ldg.2_5'Flank|EMX2_uc001ldi.3_Intron	p.190_191SL>RI	NM_004098	NP_004089	Q04743	EMX2_HUMAN		all cancers(201;0.0133)	2	1393_1394	+		Colorectal(252;0.109)|Lung NSC(174;0.179)|all_lung(145;0.22)	190_191			Homeobox.		G3V305|Q96NN8|Q9BQF4	Missense_Mutation	DNP	ENST00000553456.3	37	c.570_571CC>AA	CCDS7601.1																																																																																				0.634	EMX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050569.4	NM_004098		3	21	0	0	0	0.004672	0	3	21				
GRK5	2869	broad.mit.edu	37	10	121203194	121203194	+	Missense_Mutation	SNP	G	G	T	rs143962659		TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr10:121203194G>T	ENST00000392870.2	+	12	1525	c.1196G>T	c.(1195-1197)cGc>cTc	p.R399L	GRK5_ENST00000369108.3_Missense_Mutation_p.R294L	NM_005308.2	NP_005299.1	P34947	GRK5_HUMAN	G protein-coupled receptor kinase 5	399	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|protein autophosphorylation (GO:0046777)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|tachykinin receptor signaling pathway (GO:0007217)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|phospholipid binding (GO:0005543)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)	p.R399L(1)		endometrium(2)|large_intestine(5)|lung(15)|skin(3)|stomach(1)|urinary_tract(1)	27		Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249)		all cancers(201;0.0227)		GAGGTGGACCGCCGGGTCCTG	0.637																																							uc001led.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(2)|stomach(1)	3						c.(1195-1197)CGC>CTC		G protein-coupled receptor kinase 5							42.0	44.0	43.0					10																	121203194		2203	4300	6503	SO:0001583	missense	2869				G-protein signaling, coupled to cAMP nucleotide second messenger|regulation of G-protein coupled receptor protein signaling pathway|tachykinin receptor signaling pathway	cytoplasm|plasma membrane|soluble fraction	ATP binding|G-protein coupled receptor kinase activity|phospholipid binding|protein kinase C binding|signal transducer activity	g.chr10:121203194G>T	L15388	CCDS7612.1	10q26.11	2013-09-19	2004-02-04	2004-02-06	ENSG00000198873	ENSG00000198873			4544	protein-coding gene	gene with protein product		600870		GPRK5		7685906	Standard	NM_005308		Approved		uc001led.3	P34947	OTTHUMG00000019149	ENST00000392870.2:c.1196G>T	10.37:g.121203194G>T	ENSP00000376609:p.Arg399Leu					GRK5_uc009xzh.2_Missense_Mutation_p.R264L	p.R399L	NM_005308	NP_005299	P34947	GRK5_HUMAN		all cancers(201;0.0227)	12	1429	+		Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249)	399			Protein kinase.		D3DRD0|Q5T059	Missense_Mutation	SNP	ENST00000392870.2	37	c.1196G>T	CCDS7612.1	.	.	.	.	.	.	.	.	.	.	g	18.97	3.734995	0.69189	.	.	ENSG00000198873	ENST00000392870;ENST00000369108	T;T	0.44881	0.91;0.91	5.0	5.0	0.66597	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000015	T	0.38506	0.1043	L	0.41415	1.275	0.58432	D	0.999999	P;P	0.47762	0.758;0.9	B;B	0.40066	0.21;0.318	T	0.44452	-0.9327	10	0.87932	D	0	-0.3842	18.2796	0.90094	0.0:0.0:1.0:0.0	.	399;399	B2R7K0;P34947	.;GRK5_HUMAN	L	399;294	ENSP00000376609:R399L;ENSP00000358104:R294L	ENSP00000358104:R294L	R	+	2	0	GRK5	121193184	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.561000	0.60809	2.318000	0.78349	0.561000	0.74099	CGC		0.637	GRK5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050652.2	NM_005308		10	35	1	0	5.50884e-06	0.001368	6.53894e-06	10	35				
BAG3	9531	broad.mit.edu	37	10	121431949	121431950	+	Missense_Mutation	DNP	GA	GA	AG			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	GA	GA	-	-	GA	GA	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr10:121431949_121431950GA>AG	ENST00000369085.3	+	3	996_997	c.690_691GA>AG	c.(688-693)aaGAcg>aaAGcg	p.T231A		NM_004281.3	NP_004272.2	O95817	BAG3_HUMAN	BCL2-associated athanogene 3	231					brain development (GO:0007420)|cellular response to mechanical stimulus (GO:0071260)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|negative regulation of apoptotic process (GO:0043066)|negative regulation of striated muscle cell apoptotic process (GO:0010664)|protein folding (GO:0006457)|protein stabilization (GO:0050821)|spinal cord development (GO:0021510)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|Z disc (GO:0030018)		p.T231A(1)		endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(5)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	20		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00187)|BRCA - Breast invasive adenocarcinoma(275;0.148)		AAGCCCAGAAGACGCACTACCC	0.658																																							uc001lem.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(688-693)AAGACG>AAAGCG		BCL2-associated athanogene 3																																				SO:0001583	missense	9531				anti-apoptosis|apoptosis|protein folding	cytosol		g.chr10:121431949_121431950GA>AG	AF095193	CCDS7615.1	10q25.2-q26.2	2014-09-17			ENSG00000151929	ENSG00000151929			939	protein-coding gene	gene with protein product		603883				9873016, 18094623	Standard	XM_005270287		Approved		uc001lem.3	O95817	OTTHUMG00000019155	Exception_encountered	10.37:g.121431949_121431950delinsAG	ENSP00000358081:p.Thr231Ala					BAG3_uc001lel.2_Missense_Mutation_p.T231A	p.T231A	NM_004281	NP_004272	O95817	BAG3_HUMAN		all cancers(201;0.00187)|BRCA - Breast invasive adenocarcinoma(275;0.148)	3	996_997	+		Lung NSC(174;0.109)|all_lung(145;0.142)	231					A8K5L8|Q3B763|Q9NT20|Q9P120	Missense_Mutation	DNP	ENST00000369085.3	37	c.690_691GA>AG	CCDS7615.1																																																																																				0.658	BAG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050662.1	NM_004281		3	64	0	0	0	0.004672	0	3	64				
FAM24A	118670	broad.mit.edu	37	10	124672365	124672365	+	Silent	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr10:124672365C>A	ENST00000368894.1	+	3	334	c.213C>A	c.(211-213)acC>acA	p.T71T		NM_001029888.1	NP_001025059.1	A6NFZ4	FA24A_HUMAN	family with sequence similarity 24, member A	71						extracellular region (GO:0005576)		p.T71T(1)		large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	9		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.124)|COAD - Colon adenocarcinoma(40;0.141)		CCAAAGCCACCACCATGGAGT	0.507																																							uc001lgv.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(211-213)ACC>ACA		family with sequence similarity 24, member A							165.0	122.0	137.0					10																	124672365		2203	4300	6503	SO:0001819	synonymous_variant	118670					extracellular region		g.chr10:124672365C>A		CCDS31304.1	10q26.13	2008-08-27			ENSG00000203795	ENSG00000203795			23470	protein-coding gene	gene with protein product							Standard	NM_001029888		Approved	AC073585.4	uc001lgv.3	A6NFZ4	OTTHUMG00000019193	ENST00000368894.1:c.213C>A	10.37:g.124672365C>A							p.T71T	NM_001029888	NP_001025059	A6NFZ4	FA24A_HUMAN		Colorectal(40;0.124)|COAD - Colon adenocarcinoma(40;0.141)	3	334	+		all_neural(114;0.169)|Glioma(114;0.222)	71						Silent	SNP	ENST00000368894.1	37	c.213C>A	CCDS31304.1																																																																																				0.507	FAM24A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050824.1	XM_058332		28	53	1	0	1.16021e-09	0.007291	1.58098e-09	28	53				
DOCK1	1793	broad.mit.edu	37	10	128824628	128824628	+	Missense_Mutation	SNP	A	A	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr10:128824628A>T	ENST00000280333.6	+	16	1610	c.1501A>T	c.(1501-1503)Atc>Ttc	p.I501F	RP11-223P11.3_ENST00000601826.1_RNA|RP11-223P11.3_ENST00000594614.1_RNA|RP11-223P11.3_ENST00000601242.1_RNA|RP11-223P11.3_ENST00000594559.1_RNA|RP11-223P11.3_ENST00000432554.2_RNA|RP11-223P11.3_ENST00000608350.1_RNA|RP11-223P11.3_ENST00000599979.1_RNA|RP11-223P11.3_ENST00000595456.1_RNA|RP11-223P11.2_ENST00000420941.2_RNA	NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	501	DHR-1.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|hematopoietic progenitor cell differentiation (GO:0002244)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|phagocytosis, engulfment (GO:0006911)|positive regulation of GTPase activity (GO:0043547)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)	p.I501F(1)		NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		GGCCATTCCCATCGAGGACGT	0.438																																							uc001ljt.2		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(4)|ovary(2)|lung(1)|breast(1)|kidney(1)	9						c.(1501-1503)ATC>TTC		dedicator of cytokinesis 1							79.0	77.0	78.0					10																	128824628		1946	4140	6086	SO:0001583	missense	1793				apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	g.chr10:128824628A>T	D50857	CCDS73222.1	10q26.13-q26.3	2009-10-28			ENSG00000150760	ENSG00000150760			2987	protein-coding gene	gene with protein product	"""DOwnstream of CrK"""	601403	"""dedicator of cyto-kinesis 1"""			8657152, 8661160	Standard	XM_006717681		Approved	DOCK180, ced5	uc001ljt.3	Q14185	OTTHUMG00000019249	ENST00000280333.6:c.1501A>T	10.37:g.128824628A>T	ENSP00000280333:p.Ile501Phe					DOCK1_uc010qun.1_Missense_Mutation_p.I522F	p.I501F	NM_001380	NP_001371	Q14185	DOCK1_HUMAN		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)	16	1565	+		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)	501			DHR-1.		A9Z1Z5	Missense_Mutation	SNP	ENST00000280333.6	37	c.1501A>T		.	.	.	.	.	.	.	.	.	.	A	20.9	4.073719	0.76415	.	.	ENSG00000150760	ENST00000280333	T	0.13538	2.58	4.67	4.67	0.58626	.	0.000000	0.85682	D	0.000000	T	0.42426	0.1202	M	0.87038	2.855	0.80722	D	1	D;D	0.67145	0.996;0.994	D;D	0.77004	0.989;0.958	T	0.51317	-0.8721	10	0.87932	D	0	.	14.2991	0.66334	1.0:0.0:0.0:0.0	.	501;501	B2RUU3;Q14185	.;DOCK1_HUMAN	F	501	ENSP00000280333:I501F	ENSP00000280333:I501F	I	+	1	0	DOCK1	128714618	1.000000	0.71417	0.989000	0.46669	0.625000	0.37756	7.081000	0.76844	1.960000	0.56953	0.460000	0.39030	ATC		0.438	DOCK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050979.2	NM_001380		2	4	0	0	0	0.004672	0	2	4				
MTG1	92170	broad.mit.edu	37	10	135204895	135204895	+	5'Flank	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr10:135204895G>T	ENST00000317502.6	+	0	0				PAOX_ENST00000480071.2_3'UTR|PAOX_ENST00000368535.2_3'UTR|PAOX_ENST00000368539.4_3'UTR|PAOX_ENST00000278060.5_Missense_Mutation_p.R491M|MTG1_ENST00000477902.2_5'Flank|PAOX_ENST00000357296.3_Missense_Mutation_p.E438D|RP11-108K14.8_ENST00000468317.2_Missense_Mutation_p.E30D	NM_138384.2	NP_612393.2	Q9BT17	MTG1_HUMAN	mitochondrial ribosome-associated GTPase 1						GTP catabolic process (GO:0006184)|regulation of mitochondrial translation (GO:0070129)|regulation of respiratory system process (GO:0044065)|ribosome biogenesis (GO:0042254)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial ribosome (GO:0005761)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.R491M(1)|p.E438D(1)		endometrium(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	15		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|all cancers(32;1.69e-06)|Epithelial(32;1.94e-06)		TCGGGATGGAGGGAGGCCGAC	0.657																																							uc001lmv.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(1471-1473)AGG>ATG		polyamine oxidase isoform 1							59.0	63.0	62.0					10																	135204895		2203	4299	6502	SO:0001631	upstream_gene_variant	196743				polyamine biosynthetic process|xenobiotic metabolic process	peroxisomal matrix	polyamine oxidase activity	g.chr10:135204895G>T		CCDS31320.1	10q26.3	2013-05-24	2013-05-24	2006-01-09	ENSG00000148824	ENSG00000148824			32159	protein-coding gene	gene with protein product			"""GTP-binding protein 7"", ""GTP-binding protein 7 (putative)"", ""mitochondrial GTPase 1 homolog (S. cerevisiae)"""	GTPBP7		12808030, 23396448	Standard	NM_138384		Approved		uc001lnd.3	Q9BT17	OTTHUMG00000166564		10.37:g.135204895G>T	Exception_encountered					PAOX_uc001lmw.2_RNA|PAOX_uc001lmx.2_Missense_Mutation_p.E438D|PAOX_uc001lmy.2_3'UTR|PAOX_uc001lmz.2_RNA|PAOX_uc001lna.2_RNA|PAOX_uc001lnb.2_RNA|PAOX_uc001lnc.2_RNA|MTG1_uc001lnd.2_5'Flank	p.R491M	NM_152911	NP_690875	Q6QHF9	PAOX_HUMAN		all cancers(32;4.39e-07)|OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|Epithelial(32;1.94e-06)	7	1552	+		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)	629					Q5VWX8|Q6PIY9|Q8IYJ4|Q8NC48|Q9BVU8	Missense_Mutation	SNP	ENST00000317502.6	37	c.1472G>T	CCDS31320.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	g|g|g	18.66|18.66|18.66	3.671322|3.671322|3.671322	0.67814|0.67814|0.67814	.|.|.	.|.|.	ENSG00000148832;ENSG00000254536|ENSG00000148832|ENSG00000148832	ENST00000357296;ENST00000468317|ENST00000368544;ENST00000368534|ENST00000368542;ENST00000368538;ENST00000278060	T;T|.|D	0.43688|.|0.95205	0.94;1.48|.|-3.64	5.05|5.05|5.05	5.05|5.05|5.05	0.67936|0.67936|0.67936	.|.|.	.|.|0.085942	.|.|0.85682	.|.|D	.|.|0.000000	D|D|D	0.97009|0.97009|0.97009	0.9023|0.9023|0.9023	.|.|.	.|.|.	.|.|.	0.27755|0.27755|0.27755	N|N|N	0.944038|0.944038|0.944038	D|.|D	0.59767|.|0.89917	0.986|.|1.0	P|.|D	0.58130|.|0.91635	0.833|.|0.999	D|D|D	0.92897|0.92897|0.92897	0.6336|0.6336|0.6336	8|5|9	0.05525|0.56958|0.87932	T|D|D	0.97|0.05|0	-43.2025|-43.2025|-43.2025	15.9313|15.9313|15.9313	0.79663|0.79663|0.79663	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.|.	438|.|491	Q6QHF9-4|.|Q6QHF9-2	.|.|.	D|W|M	438;30|50;80|443;212;491	ENSP00000349847:E438D;ENSP00000436767:E30D|.|ENSP00000278060:R491M	ENSP00000436767:E30D|ENSP00000357522:G80W|ENSP00000278060:R491M	E|G|R	+|+|+	3|1|2	2|0|0	PAOX;MTG1|PAOX|PAOX	135054885|135054885|135054885	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.836000|0.836000|0.836000	0.47400|0.47400|0.47400	8.740000|8.740000|8.740000	0.91579|0.91579|0.91579	2.628000|2.628000|2.628000	0.89032|0.89032|0.89032	0.563000|0.563000|0.563000	0.77884|0.77884|0.77884	GAG|GGG|AGG		0.657	MTG1-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051166.1	NM_138384		15	72	1	0	1.52009e-12	0.003163	2.30153e-12	15	72				
MUC5B	727897	broad.mit.edu	37	11	1246915	1246915	+	Silent	SNP	C	C	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr11:1246915C>T	ENST00000529681.1	+	2	133	c.75C>T	c.(73-75)acC>acT	p.T25T	MUC5B_ENST00000447027.1_Silent_p.T25T	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	25					cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)		p.T25T(2)		cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCACAGAGACCCAGGGCCCTG	0.652																																							uc009ycr.1		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(1951-1953)ACC>ACT		SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;							22.0	30.0	27.0					11																	1246915		1996	4158	6154	SO:0001819	synonymous_variant	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1246915C>T	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.75C>T	11.37:g.1246915C>T						MUC5B_uc009yct.1_Silent_p.T25T|MUC5B_uc001ltb.2_Silent_p.T25T	p.T651T	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	18	2079	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	25					O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	ENST00000529681.1	37	c.1953C>T	CCDS44515.2																																																																																				0.652	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		3	6	0	0	0	0.004672	0	3	6				
TSSC4	10078	broad.mit.edu	37	11	2427906	2427906	+	IGR	SNP	C	C	G	rs148532424	byFrequency	TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr11:2427906C>G	ENST00000333256.6	+	0	1686				TRPM5_ENST00000528453.1_Missense_Mutation_p.R1079P|TRPM5_ENST00000533060.1_Missense_Mutation_p.R1079P|TRPM5_ENST00000155858.6_Missense_Mutation_p.R1079P|TRPM5_ENST00000452833.1_Missense_Mutation_p.R1081P|AC124057.5_ENST00000433035.1_RNA			Q9Y5U2	TSSC4_HUMAN	tumor suppressing subtransferable candidate 4									p.R1079P(1)		endometrium(3)|large_intestine(1)|lung(4)	8		all_epithelial(84;0.000161)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.0137)|Lung NSC(207;0.209)		BRCA - Breast invasive adenocarcinoma(625;0.00145)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGCGGTTTTCCGCAGCACCTC	0.617																																						NSCLC(1;49 61 17205 18850 43201)	uc001lwm.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4						c.(3235-3237)CGG>CCG		transient receptor potential cation channel,							120.0	112.0	115.0					11																	2427906		2202	4299	6501	SO:0001628	intergenic_variant	29850					integral to membrane|plasma membrane	receptor activity|voltage-gated ion channel activity	g.chr11:2427906C>G	AF125568	CCDS7735.1, CCDS73241.1	11p15.5	2008-02-05			ENSG00000184281	ENSG00000184281			12386	protein-coding gene	gene with protein product		603852				10072438	Standard	XM_005252722		Approved		uc001lwl.3	Q9Y5U2	OTTHUMG00000009895		11.37:g.2427906C>G						TRPM5_uc010qxl.1_Missense_Mutation_p.R1079P|TRPM5_uc009ydn.2_Missense_Mutation_p.R1081P	p.R1079P	NM_014555	NP_055370	Q9NZQ8	TRPM5_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)	21	3245	-		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)	1079			Cytoplasmic (Potential).		C9JS66|Q86VL2|Q9BRS6	Missense_Mutation	SNP	ENST00000333256.6	37	c.3236G>C	CCDS7735.1	.	.	.	.	.	.	.	.	.	.	C	13.18	2.159570	0.38119	.	.	ENSG00000070985	ENST00000533881;ENST00000155858;ENST00000452833;ENST00000533060;ENST00000528453	T;T;T;T;T	0.64991	0.02;-0.03;-0.04;-0.13;-0.04	3.96	2.02	0.26589	.	0.130487	0.49305	D	0.000149	T	0.71316	0.3325	M	0.65975	2.015	0.32636	N	0.521359	D;D;D	0.67145	0.996;0.996;0.996	D;D;D	0.65140	0.932;0.932;0.923	T	0.76597	-0.2901	10	0.87932	D	0	-26.3765	8.7117	0.34387	0.0:0.7879:0.0:0.2121	.	1079;1081;1079	E9PRW0;Q9NZQ8-2;Q9NZQ8	.;.;TRPM5_HUMAN	P	1073;1079;1081;1079;1079	ENSP00000434383:R1073P;ENSP00000155858:R1079P;ENSP00000387965:R1081P;ENSP00000434121:R1079P;ENSP00000436809:R1079P	ENSP00000155858:R1079P	R	-	2	0	TRPM5	2384482	0.000000	0.05858	0.151000	0.22473	0.521000	0.34408	-0.072000	0.11486	0.799000	0.34018	0.561000	0.74099	CGG		0.617	TSSC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027369.3	NM_005706		11	69	0	0	0	0.001855	0	11	69				
OR52M1	119772	broad.mit.edu	37	11	4567362	4567362	+	Missense_Mutation	SNP	G	G	T	rs148181600	byFrequency	TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr11:4567362G>T	ENST00000360213.1	+	1	942	c.942G>T	c.(940-942)atG>atT	p.M314I		NM_001004137.1	NP_001004137.1	Q8NGK5	O52M1_HUMAN	olfactory receptor, family 52, subfamily M, member 1	314						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.M314I(1)		endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGATAGAAATGAAGATTAGAT	0.403																																							uc010qyf.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(940-942)ATG>ATT		olfactory receptor, family 52, subfamily M,							61.0	58.0	59.0					11																	4567362		2201	4298	6499	SO:0001583	missense	119772				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4567362G>T	AB065789	CCDS31353.1	11p15.4	2012-08-09	2002-11-13	2002-11-15	ENSG00000197790	ENSG00000197790		"""GPCR / Class A : Olfactory receptors"""	15225	protein-coding gene	gene with protein product			"""olfactory receptor, family 52, subfamily M, member 1 pseudogene"""	OR52M1P			Standard	NM_001004137		Approved		uc010qyf.2	Q8NGK5	OTTHUMG00000165706	ENST00000360213.1:c.942G>T	11.37:g.4567362G>T	ENSP00000353343:p.Met314Ile						p.M314I	NM_001004137	NP_001004137	Q8NGK5	O52M1_HUMAN		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	942	+		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	314			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000360213.1	37	c.942G>T	CCDS31353.1	.	.	.	.	.	.	.	.	.	.	G	7.366	0.625820	0.14257	.	.	ENSG00000197790	ENST00000360213	T	0.01084	5.36	4.82	-4.11	0.03928	.	1.023020	0.07808	N	0.957590	T	0.00754	0.0025	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.48007	-0.9072	10	0.52906	T	0.07	.	1.8401	0.03148	0.1287:0.3034:0.333:0.2348	.	314	Q8NGK5	O52M1_HUMAN	I	314	ENSP00000353343:M314I	ENSP00000353343:M314I	M	+	3	0	OR52M1	4523938	0.001000	0.12720	0.006000	0.13384	0.019000	0.09904	-0.439000	0.06897	-0.852000	0.04141	-0.262000	0.10625	ATG		0.403	OR52M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385847.1	NM_001004137		7	43	1	0	5.68852e-11	0.004482	8.1424e-11	7	43				
HBB	3043	broad.mit.edu	37	11	5246896	5246896	+	Missense_Mutation	SNP	G	G	T	rs281864544|rs35323748|rs281864902		TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr11:5246896G>T	ENST00000335295.4	-	3	425	c.376C>A	c.(376-378)Cca>Aca	p.P126T	CoTC_ribozyme_ENST00000408104.1_RNA	NM_000518.4	NP_000509.1	P68871	HBB_HUMAN	hemoglobin, beta	126					bicarbonate transport (GO:0015701)|blood coagulation (GO:0007596)|hydrogen peroxide catabolic process (GO:0042744)|nitric oxide transport (GO:0030185)|oxidation-reduction process (GO:0055114)|oxygen transport (GO:0015671)|platelet aggregation (GO:0070527)|positive regulation of cell death (GO:0010942)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|protein heterooligomerization (GO:0051291)|regulation of blood pressure (GO:0008217)|regulation of blood vessel size (GO:0050880)|renal absorption (GO:0070293)|response to hydrogen peroxide (GO:0042542)|small molecule metabolic process (GO:0044281)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|haptoglobin-hemoglobin complex (GO:0031838)|hemoglobin complex (GO:0005833)	heme binding (GO:0020037)|hemoglobin binding (GO:0030492)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|oxygen transporter activity (GO:0005344)	p.P126T(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1)	15		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	Iron Dextran(DB00893)	GCCTGCACTGGTGGGGTGAAT	0.498									Sickle Cell Trait																														uc001mae.1		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(376-378)CCA>ACA		beta globin	Iron Dextran(DB00893)						115.0	103.0	107.0					11																	5246896		2201	4298	6499	SO:0001583	missense	3043	Sickle_Cell_Trait	Familial Cancer Database		blood coagulation|hydrogen peroxide catabolic process|nitric oxide transport|positive regulation of cell death|positive regulation of nitric oxide biosynthetic process|protein heterooligomerization|regulation of blood pressure|regulation of blood vessel size	haptoglobin-hemoglobin complex|hemoglobin complex	heme binding|hemoglobin binding|oxygen binding|oxygen transporter activity	g.chr11:5246896G>T	J00173	CCDS7753.1	11p15.5	2014-05-19			ENSG00000244734	ENSG00000244734			4827	protein-coding gene	gene with protein product		141900				2649166	Standard	NM_000518		Approved	CD113t-C, HBD, beta-globin	uc001mae.1	P68871	OTTHUMG00000066678	ENST00000335295.4:c.376C>A	11.37:g.5246896G>T	ENSP00000333994:p.Pro126Thr						p.P126T	NM_000518	NP_000509	P68871	HBB_HUMAN		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	3	426	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	126					A4GX73|B2ZUE0|P02023|Q13852|Q14481|Q14510|Q45KT0|Q549N7|Q6FI08|Q6R7N2|Q8IZI1|Q9BX96|Q9UCD6|Q9UCP8|Q9UCP9	Missense_Mutation	SNP	ENST00000335295.4	37	c.376C>A	CCDS7753.1	.	.	.	.	.	.	.	.	.	.	g	4.456	0.084520	0.08583	.	.	ENSG00000244734	ENST00000335295	D	0.93547	-3.24	4.68	-9.37	0.00626	Globin-like (1);Globin, structural domain (1);	.	.	.	.	T	0.75968	0.3922	N	0.00841	-1.15	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.67945	-0.5539	9	0.54805	T	0.06	-0.0374	10.7134	0.45997	0.3157:0.4952:0.1892:0.0	.	126	P68871	HBB_HUMAN	T	126	ENSP00000333994:P126T	ENSP00000333994:P126T	P	-	1	0	HBB	5203472	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.271000	0.08572	-2.124000	0.00822	-1.288000	0.01363	CCA		0.498	HBB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142977.2	NM_000518		23	55	1	0	7.41877e-09	0.001882	9.79585e-09	23	55				
OR51Q1	390061	broad.mit.edu	37	11	5443936	5443936	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr11:5443936C>A	ENST00000300778.4	+	1	596	c.506C>A	c.(505-507)cCt>cAt	p.P169H	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA	NM_001004757.2	NP_001004757.1	Q8NH59	O51Q1_HUMAN	olfactory receptor, family 51, subfamily Q, member 1 (gene/pseudogene)	169						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P169H(1)		endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	37		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AAGCGACTGCCTTTCTGCCAC	0.512																																							uc010qzd.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(505-507)CCT>CAT		olfactory receptor, family 51, subfamily Q,							211.0	197.0	202.0					11																	5443936		2201	4297	6498	SO:0001583	missense	390061				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5443936C>A	AB065531	CCDS31381.1	11p15.4	2013-10-10	2013-10-10		ENSG00000167360	ENSG00000167360		"""GPCR / Class A : Olfactory receptors"""	14851	protein-coding gene	gene with protein product			"""olfactory receptor, family 51, subfamily Q, member 1"""				Standard	NM_001004757		Approved		uc010qzd.2	Q8NH59	OTTHUMG00000066896	ENST00000300778.4:c.506C>A	11.37:g.5443936C>A	ENSP00000300778:p.Pro169His					HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron	p.P169H	NM_001004757	NP_001004757	Q8NH59	O51Q1_HUMAN		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	506	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	169			Extracellular (Potential).		B2RNN1	Missense_Mutation	SNP	ENST00000300778.4	37	c.506C>A	CCDS31381.1	.	.	.	.	.	.	.	.	.	.	C	13.87	2.366007	0.41902	.	.	ENSG00000167360	ENST00000300778	T	0.00207	8.55	5.0	5.0	0.66597	GPCR, rhodopsin-like superfamily (1);	0.108661	0.41712	D	0.000823	T	0.00552	0.0018	M	0.73962	2.25	0.44323	D	0.997201	D	0.89917	1.0	D	0.97110	1.0	D	0.88235	0.2906	10	0.30854	T	0.27	.	17.191	0.86879	0.0:1.0:0.0:0.0	.	169	Q8NH59	O51Q1_HUMAN	H	169	ENSP00000300778:P169H	ENSP00000300778:P169H	P	+	2	0	OR51Q1	5400512	0.000000	0.05858	1.000000	0.80357	0.230000	0.25150	0.602000	0.24134	2.641000	0.89580	0.380000	0.24917	CCT		0.512	OR51Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143373.1	NM_001004757		63	131	1	0	3.00063e-23	0.00361	5.40854e-23	63	131				
OR52E8	390079	broad.mit.edu	37	11	5878090	5878090	+	Missense_Mutation	SNP	T	T	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr11:5878090T>A	ENST00000537935.1	-	1	874	c.843A>T	c.(841-843)ttA>ttT	p.L281F	TRIM5_ENST00000380027.1_Intron	NM_001005168.1	NP_001005168.1	Q6IFG1	O52E8_HUMAN	olfactory receptor, family 52, subfamily E, member 8	281						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L281F(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114)		Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACAGGTTGGCTAATATAATAT	0.393																																							uc010qzr.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(841-843)TTA>TTT		olfactory receptor, family 52, subfamily E,							99.0	116.0	110.0					11																	5878090		2144	4296	6440	SO:0001583	missense	390079				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5878090T>A	BK004301	CCDS31400.1	11p15.4	2012-08-09	2003-12-15		ENSG00000183269	ENSG00000183269		"""GPCR / Class A : Olfactory receptors"""	15217	protein-coding gene	gene with protein product			"""olfactory receptor, family 52, subfamily E, member 8 pseudogene"""				Standard	NM_001005168		Approved		uc010qzr.2	Q6IFG1	OTTHUMG00000168803	ENST00000537935.1:c.843A>T	11.37:g.5878090T>A	ENSP00000444054:p.Leu281Phe					TRIM5_uc001mbq.1_Intron	p.L281F	NM_001005168	NP_001005168	Q6IFG1	O52E8_HUMAN		Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	843	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114)	281			Helical; Name=7; (Potential).		B9EH38	Missense_Mutation	SNP	ENST00000537935.1	37	c.843A>T	CCDS31400.1	.	.	.	.	.	.	.	.	.	.	T	6.343	0.431394	0.12045	.	.	ENSG00000183269	ENST00000537935	T	0.38401	1.14	4.12	-8.24	0.01029	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41712	D	0.000821	T	0.30696	0.0773	L	0.54965	1.715	0.09310	N	1	B	0.34290	0.447	P	0.47015	0.534	T	0.32745	-0.9895	10	0.37606	T	0.19	.	3.6044	0.08037	0.0864:0.302:0.1662:0.4453	.	281	Q6IFG1	O52E8_HUMAN	F	281	ENSP00000444054:L281F	ENSP00000444054:L281F	L	-	3	2	OR52E8	5834666	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-6.209000	0.00076	-2.186000	0.00760	-1.088000	0.02184	TTA		0.393	OR52E8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401145.1	NM_001005168		32	93	0	0	0	0.002096	0	32	93				
CNGA4	1262	broad.mit.edu	37	11	6262914	6262914	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr11:6262914G>T	ENST00000379936.2	+	5	1286	c.1171G>T	c.(1171-1173)Ggt>Tgt	p.G391C	CNGA4_ENST00000533426.1_Missense_Mutation_p.G160C	NM_001037329.3	NP_001032406.1	Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4	391					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sensory perception of smell (GO:0007608)	integral component of plasma membrane (GO:0005887)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)	p.G391C(1)		endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CATCCGAGAGGGTCAACTGGC	0.537																																							uc001mco.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1171-1173)GGT>TGT		cyclic nucleotide gated channel alpha 4							281.0	240.0	254.0					11																	6262914		2201	4296	6497	SO:0001583	missense	1262				response to stimulus|sensory perception of smell		cAMP binding	g.chr11:6262914G>T	AK122736	CCDS31408.1	11p15.4	2011-07-05		2002-01-18		ENSG00000132259		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2152	protein-coding gene	gene with protein product		609472	"""cyclic nucleotide gated channel beta 2"""	CNCA2, CNGB2		11764791, 16382102	Standard	NM_001037329		Approved	OCNC2, OCNCb, CNG5	uc001mco.3	Q8IV77		ENST00000379936.2:c.1171G>T	11.37:g.6262914G>T	ENSP00000369268:p.Gly391Cys					CNGA4_uc010raa.1_Missense_Mutation_p.G160C|CNGA4_uc001mcn.2_Missense_Mutation_p.G351C	p.G391C	NM_001037329	NP_001032406	Q8IV77	CNGA4_HUMAN		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	5	1278	+		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	391			cNMP.|Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000379936.2	37	c.1171G>T	CCDS31408.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.630556	0.87660	.	.	ENSG00000132259	ENST00000533426;ENST00000379936	D;D	0.99960	-9.08;-9.08	5.0	5.0	0.66597	Cyclic nucleotide-binding, conserved site (1);Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.000000	0.85682	D	0.000000	D	0.99975	0.9992	H	0.99897	4.91	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.97690	1.0178	10	0.87932	D	0	.	17.0391	0.86483	0.0:0.0:1.0:0.0	.	160;391;351	B4DYQ8;Q8IV77;Q8IV77-2	.;CNGA4_HUMAN;.	C	160;391	ENSP00000433399:G160C;ENSP00000369268:G391C	ENSP00000369268:G391C	G	+	1	0	CNGA4	6219490	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.263000	0.95617	2.588000	0.87417	0.655000	0.94253	GGT		0.537	CNGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383765.2	NM_001037329		60	157	1	0	2.05175e-36	0.00361	3.88313e-36	60	157				
DCHS1	8642	broad.mit.edu	37	11	6651268	6651268	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr11:6651268G>A	ENST00000299441.3	-	10	5168	c.4757C>T	c.(4756-4758)tCt>tTt	p.S1586F	RP11-732A19.6_ENST00000526633.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	1586	Cadherin 15. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S1586F(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTCCCCGCCAGATGCCAGCCG	0.687																																							uc001mem.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(1)|pancreas(1)	5						c.(4756-4758)TCT>TTT		dachsous 1 precursor							19.0	21.0	20.0					11																	6651268		2183	4270	6453	SO:0001583	missense	8642				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:6651268G>A	AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"""Cadherins / Cadherin-related"""	13681	protein-coding gene	gene with protein product	"""cadherin-related family member 6"""	603057	"""protocadherin 16"", ""dachsous 1 (Drosophila)"""	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.4757C>T	11.37:g.6651268G>A	ENSP00000299441:p.Ser1586Phe						p.S1586F	NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	10	5167	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	1586			Cadherin 15.|Extracellular (Potential).		O15098	Missense_Mutation	SNP	ENST00000299441.3	37	c.4757C>T	CCDS7771.1	.	.	.	.	.	.	.	.	.	.	G	15.43	2.832458	0.50845	.	.	ENSG00000166341	ENST00000299441	T	0.03607	3.87	4.68	2.69	0.31865	Cadherin (4);Cadherin-like (1);	0.596520	0.13810	N	0.361186	T	0.06735	0.0172	L	0.60845	1.875	0.20926	N	0.999829	B	0.27192	0.171	B	0.35655	0.207	T	0.21415	-1.0246	10	0.72032	D	0.01	.	8.9965	0.36055	0.0904:0.2359:0.6737:0.0	.	1586	Q96JQ0	PCD16_HUMAN	F	1586	ENSP00000299441:S1586F	ENSP00000299441:S1586F	S	-	2	0	DCHS1	6607844	0.239000	0.23836	0.124000	0.21820	0.674000	0.39518	1.463000	0.35277	1.198000	0.43158	0.407000	0.27541	TCT		0.687	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737		4	14	0	0	0	0.000602	0	4	14				
OR2D3	120775	broad.mit.edu	37	11	6943155	6943155	+	Missense_Mutation	SNP	T	T	G			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr11:6943155T>G	ENST00000317834.3	+	1	951	c.923T>G	c.(922-924)tTg>tGg	p.L308W		NM_001004684.1	NP_001004684.1	Q8NGH3	OR2D3_HUMAN	olfactory receptor, family 2, subfamily D, member 3	308						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L308W(1)		breast(1)|endometrium(2)|large_intestine(7)|lung(12)|prostate(3)|skin(1)|stomach(1)	27		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		ATTTATAGCTTGAGGAACAAA	0.423																																							uc010rav.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(922-924)TTG>TGG		olfactory receptor, family 2, subfamily D,							72.0	75.0	74.0					11																	6943155		2201	4296	6497	SO:0001583	missense	120775				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6943155T>G	BK004294	CCDS31417.1	11p15.4	2012-08-09			ENSG00000178358	ENSG00000178358		"""GPCR / Class A : Olfactory receptors"""	15146	protein-coding gene	gene with protein product							Standard	NM_001004684		Approved		uc010rav.2	Q8NGH3	OTTHUMG00000165742	ENST00000317834.3:c.923T>G	11.37:g.6943155T>G	ENSP00000320560:p.Leu308Trp						p.L308W	NM_001004684	NP_001004684	Q8NGH3	OR2D3_HUMAN		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)	1	923	+		Medulloblastoma(188;0.0523)|all_neural(188;0.236)	308			Helical; Name=7; (Potential).		B2RP06|Q6IFG8|Q96R51	Missense_Mutation	SNP	ENST00000317834.3	37	c.923T>G	CCDS31417.1	.	.	.	.	.	.	.	.	.	.	T	15.18	2.756394	0.49362	.	.	ENSG00000178358	ENST00000317834	T	0.49139	0.79	5.17	5.17	0.71159	.	0.000000	0.34652	N	0.003791	T	0.77579	0.4151	H	0.96142	3.775	0.19945	N	0.99994	D	0.76494	0.999	D	0.87578	0.998	T	0.74965	-0.3484	10	0.87932	D	0	-20.8999	13.3025	0.60334	0.0:0.0:0.0:1.0	.	308	Q8NGH3	OR2D3_HUMAN	W	308	ENSP00000320560:L308W	ENSP00000320560:L308W	L	+	2	0	OR2D3	6899731	0.897000	0.30589	0.869000	0.34112	0.334000	0.28698	5.891000	0.69782	2.310000	0.77875	0.533000	0.62120	TTG		0.423	OR2D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385987.1	NM_001004684		33	68	0	0	0	0.002445	0	33	68				
NLRP14	338323	broad.mit.edu	37	11	7065106	7065106	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr11:7065106G>T	ENST00000299481.4	+	4	2195	c.1849G>T	c.(1849-1851)Gta>Tta	p.V617L		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	617					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)		ATP binding (GO:0005524)	p.V617L(1)		breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		ACATTTGCTTGTATCTTCTTT	0.403																																							uc001mfb.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(2)|pancreas(1)|lung(1)|skin(1)	8						c.(1849-1851)GTA>TTA		NLR family, pyrin domain containing 14							130.0	133.0	132.0					11																	7065106		2201	4296	6497	SO:0001583	missense	338323				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding	g.chr11:7065106G>T	BK001107	CCDS7776.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000158077		"""Nucleotide-binding domain and leucine rich repeat containing"""	22939	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 14"""	609665	"""NACHT, leucine rich repeat and PYD containing 14"""	NALP14		12563287	Standard	NM_176822		Approved	NOD5, GC-LRR, Nalp-iota, PAN8, CLR11.2	uc001mfb.1	Q86W24		ENST00000299481.4:c.1849G>T	11.37:g.7065106G>T	ENSP00000299481:p.Val617Leu						p.V617L	NM_176822	NP_789792	Q86W24	NAL14_HUMAN		Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)	4	2172	+			617					Q7RTR6	Missense_Mutation	SNP	ENST00000299481.4	37	c.1849G>T	CCDS7776.1	.	.	.	.	.	.	.	.	.	.	G	7.579	0.668290	0.14776	.	.	ENSG00000158077	ENST00000299481	D	0.89746	-2.56	4.73	0.526	0.17078	.	0.522097	0.16478	N	0.212667	D	0.82742	0.5103	M	0.64630	1.985	0.09310	N	1	B	0.14012	0.009	B	0.12156	0.007	T	0.72398	-0.4306	10	0.59425	D	0.04	.	0.9991	0.01473	0.2094:0.1824:0.4208:0.1874	.	617	Q86W24	NAL14_HUMAN	L	617	ENSP00000299481:V617L	ENSP00000299481:V617L	V	+	1	0	NLRP14	7021682	0.013000	0.17824	0.223000	0.23860	0.336000	0.28762	0.483000	0.22292	0.257000	0.21650	0.655000	0.94253	GTA		0.403	NLRP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384551.1	NM_176822		37	88	1	0	3.33393e-15	0.004878	5.39981e-15	37	88				
EIF4G2	1982	broad.mit.edu	37	11	10820818	10820818	+	Silent	SNP	T	T	C			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr11:10820818T>C	ENST00000526148.1	-	20	2988	c.2478A>G	c.(2476-2478)ctA>ctG	p.L826L	EIF4G2_ENST00000396525.2_Silent_p.L788L|SNORD97_ENST00000459187.1_RNA|EIF4G2_ENST00000339995.5_Silent_p.L826L|EIF4G2_ENST00000525681.1_Silent_p.L826L|RP11-685M7.5_ENST00000532365.1_RNA	NM_001172705.1	NP_001166176			eukaryotic translation initiation factor 4 gamma, 2									p.L826L(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	43				all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		CACTGACTTGTAGATCAACGT	0.438																																							uc001mjc.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(2476-2478)CTA>CTG		eukaryotic translation initiation factor 4							162.0	150.0	154.0					11																	10820818		2201	4294	6495	SO:0001819	synonymous_variant	1982				cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	g.chr11:10820818T>C	U73824	CCDS31428.1, CCDS41618.1	11p15	2005-09-29			ENSG00000110321	ENSG00000110321			3297	protein-coding gene	gene with protein product		602325				9030685, 9032289	Standard	NM_001042559		Approved	DAP5, NAT1, p97	uc001mjc.3	P78344	OTTHUMG00000165823	ENST00000526148.1:c.2478A>G	11.37:g.10820818T>C						EIF4G2_uc001mjb.2_Silent_p.L620L|EIF4G2_uc009ygf.2_Silent_p.L620L|EIF4G2_uc001mjd.2_Silent_p.L788L	p.L826L	NM_001418	NP_001409	P78344	IF4G2_HUMAN		all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)	20	2895	-			826			W2.			Silent	SNP	ENST00000526148.1	37	c.2478A>G	CCDS31428.1																																																																																				0.438	EIF4G2-006	KNOWN	alternative_5_UTR|non_ATG_start|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386603.1	NM_001418		31	54	0	0	0	0.004289	0	31	54				
ARNTL	406	broad.mit.edu	37	11	13378644	13378644	+	Splice_Site	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr11:13378644G>T	ENST00000403290.1	+	7	576		c.e7+1		ARNTL_ENST00000396441.3_Splice_Site|ARNTL_ENST00000361003.4_Splice_Site|ARNTL_ENST00000401424.1_Splice_Site|ARNTL_ENST00000403510.3_Splice_Site|ARNTL_ENST00000403482.3_Splice_Site|ARNTL_ENST00000389707.4_Splice_Site|ARNTL_ENST00000389708.3_Splice_Site			O00327	BMAL1_HUMAN	aryl hydrocarbon receptor nuclear translocator-like						circadian regulation of gene expression (GO:0032922)|circadian rhythm (GO:0007623)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transcription, DNA-templated (GO:0045892)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of skeletal muscle cell differentiation (GO:2001016)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein import into nucleus, translocation (GO:0000060)|regulation of cell cycle (GO:0051726)|regulation of cellular senescence (GO:2000772)|regulation of hair cycle (GO:0042634)|regulation of insulin secretion (GO:0050796)|regulation of neurogenesis (GO:0050767)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|regulation of type B pancreatic cell development (GO:2000074)|response to redox state (GO:0051775)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|nuclear body (GO:0016604)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	aryl hydrocarbon receptor binding (GO:0017162)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|Hsp90 protein binding (GO:0051879)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|signal transducer activity (GO:0004871)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.?(1)		breast(1)|endometrium(2)|large_intestine(11)|lung(5)|upper_aerodigestive_tract(1)	20				Epithelial(150;0.0243)		AAAATGCAAGGTAAGCTTGGA	0.413																																							uc001mkr.2		NA																	1	Unknown(1)		lung(1)		0						c.e7+1		aryl hydrocarbon receptor nuclear							106.0	100.0	102.0					11																	13378644		2200	4294	6494	SO:0001630	splice_region_variant	406				circadian rhythm|positive regulation of transcription from RNA polymerase II promoter	transcription factor complex	aryl hydrocarbon receptor binding|DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr11:13378644G>T	D89722	CCDS31430.1, CCDS44543.1, CCDS73259.1	11p15	2013-05-21			ENSG00000133794	ENSG00000133794		"""Basic helix-loop-helix proteins"""	701	protein-coding gene	gene with protein product		602550				9144434, 9079689	Standard	XM_005252930		Approved	MOP3, JAP3, BMAL1, PASD3, bHLHe5	uc001mkp.3	O00327	OTTHUMG00000150623	ENST00000403290.1:c.221+1G>T	11.37:g.13378644G>T						ARNTL_uc001mko.2_Splice_Site_p.R31_splice|ARNTL_uc001mkp.2_Splice_Site_p.R74_splice|ARNTL_uc001mkq.2_Splice_Site_p.R74_splice|ARNTL_uc001mks.2_Splice_Site_p.R31_splice|ARNTL_uc001mkt.2_Splice_Site_p.R74_splice|ARNTL_uc001mku.2_Splice_Site|ARNTL_uc009ygm.1_Splice_Site_p.R31_splice|ARNTL_uc001mkv.1_Splice_Site_p.R31_splice|ARNTL_uc001mkw.2_Splice_Site_p.R31_splice|ARNTL_uc001mkx.2_Splice_Site_p.R72_splice	p.R74_splice	NM_001178	NP_001169	O00327	BMAL1_HUMAN		Epithelial(150;0.0243)	7	629	+								A2I2N6|A8K645|B5ME11|B7WPG7|D3DQW6|O00313|O00314|O00315|O00316|O00317|Q4G136|Q8IUT4|Q99631|Q99649	Splice_Site	SNP	ENST00000403290.1	37	c.221_splice		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.13|18.13	3.556400|3.556400	0.65425|0.65425	.|.	.|.	ENSG00000133794|ENSG00000133794	ENST00000527998;ENST00000396441;ENST00000533520;ENST00000529825;ENST00000389707;ENST00000401424;ENST00000529388;ENST00000530357;ENST00000403290;ENST00000361003;ENST00000389708;ENST00000403510;ENST00000482049;ENST00000339640;ENST00000403482|ENST00000531665	.|.	.|.	.|.	5.63|5.63	5.63|5.63	0.86233|0.86233	.|.	.|.	.|.	.|.	.|.	.|T	.|0.74176	.|0.3682	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.71708	.|-0.4511	.|4	.|.	.|.	.|.	.|.	17.8297|17.8297	0.88677|0.88677	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	.|S	-1|61	.|.	.|.	.|R	+|+	.|3	.|2	ARNTL|ARNTL	13335220|13335220	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.838000|0.838000	0.47535|0.47535	5.146000|5.146000	0.64845|0.64845	2.826000|2.826000	0.97356|0.97356	0.655000|0.655000	0.94253|0.94253	.|AGG		0.413	ARNTL-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000319173.1	NM_001178	Intron	14	37	1	0	4.7546e-09	0.004007	6.3519e-09	14	37				
INSC	387755	broad.mit.edu	37	11	15222397	15222397	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr11:15222397G>T	ENST00000379554.3	+	7	908	c.862G>T	c.(862-864)Gtt>Ttt	p.V288F	INSC_ENST00000528567.1_Missense_Mutation_p.V241F|INSC_ENST00000379556.3_Missense_Mutation_p.V241F|INSC_ENST00000525218.1_Intron|INSC_ENST00000530161.1_Missense_Mutation_p.V241F|INSC_ENST00000447214.2_Intron|INSC_ENST00000424273.1_Intron	NM_001031853.3	NP_001027024.3	Q1MX18	INSC_HUMAN	inscuteable homolog (Drosophila)	288					establishment of mitotic spindle orientation (GO:0000132)|lung epithelial cell differentiation (GO:0060487)|nervous system development (GO:0007399)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)		p.V288F(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						ACTCTTCAAGGTTTGCCGGCA	0.557																																							uc001mly.2		NA																	1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(2)|ovary(2)|central_nervous_system(1)	5						c.(862-864)GTT>TTT		inscuteable isoform a							105.0	103.0	103.0					11																	15222397		2054	4217	6271	SO:0001583	missense	387755				cell differentiation|nervous system development	cytoplasm	binding	g.chr11:15222397G>T	AB231744	CCDS41621.1, CCDS41622.1, CCDS60735.1, CCDS60736.1	11p15.2	2014-02-05			ENSG00000188487	ENSG00000188487			33116	protein-coding gene	gene with protein product	"""inscuteable spindle orientation adaptor protein"""	610668				16458856	Standard	NM_001031853		Approved		uc001mly.4	Q1MX18	OTTHUMG00000165838	ENST00000379554.3:c.862G>T	11.37:g.15222397G>T	ENSP00000368872:p.Val288Phe					INSC_uc001mlz.2_Missense_Mutation_p.V241F|INSC_uc001mma.2_Missense_Mutation_p.V241F|INSC_uc010rcs.1_Missense_Mutation_p.V276F|INSC_uc001mmb.2_Missense_Mutation_p.V241F|INSC_uc001mmc.2_Intron	p.V288F	NM_001031853	NP_001027024	Q1MX18	INSC_HUMAN			7	908	+			288					A0PJX5|Q1MX19|Q3C1V6|Q4AC95|Q4AC96|Q4AC97|Q4AC98	Missense_Mutation	SNP	ENST00000379554.3	37	c.862G>T	CCDS41621.1	.	.	.	.	.	.	.	.	.	.	G	13.73	2.325091	0.41197	.	.	ENSG00000188487	ENST00000379554;ENST00000379556;ENST00000416761;ENST00000528567;ENST00000530161	T;T;T;T	0.49139	0.79;0.79;0.79;0.79	5.04	1.68	0.24146	Armadillo-like helical (1);Armadillo-type fold (1);	0.174822	0.48767	D	0.000175	T	0.22859	0.0552	N	0.08118	0	0.80722	D	1	B;B;P	0.37276	0.056;0.235;0.589	B;B;B	0.33454	0.049;0.144;0.164	T	0.05971	-1.0853	10	0.72032	D	0.01	-17.37	7.455	0.27261	0.4301:0.0:0.5699:0.0	.	276;241;288	Q1MX18-5;A0PJX5;Q1MX18	.;.;INSC_HUMAN	F	288;241;276;241;241	ENSP00000368872:V288F;ENSP00000368874:V241F;ENSP00000435022:V241F;ENSP00000436194:V241F	ENSP00000368872:V288F	V	+	1	0	INSC	15178973	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	3.392000	0.52537	0.181000	0.19994	-1.598000	0.00824	GTT		0.557	INSC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386590.1	NM_001031853		10	33	1	0	3.86212e-05	0.008291	4.42498e-05	10	33				
MRGPRX3	117195	broad.mit.edu	37	11	18159298	18159298	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr11:18159298G>T	ENST00000396275.2	+	3	910	c.549G>T	c.(547-549)tgG>tgT	p.W183C		NM_054031.3	NP_473372.3	Q96LB0	MRGX3_HUMAN	MAS-related GPR, member X3	183						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.W183C(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						CAATCGCGTGGCTGGTTTTTT	0.512																																							uc001mnu.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(547-549)TGG>TGT		MAS-related GPR, member X3							159.0	145.0	150.0					11																	18159298		2200	4293	6493	SO:0001583	missense	117195					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:18159298G>T		CCDS7830.1	11p15.1	2013-10-10			ENSG00000179826	ENSG00000179826		"""GPCR / Class A : Orphans"""	17980	protein-coding gene	gene with protein product		607229				11551509	Standard	NM_054031		Approved	MRGX3	uc001mnu.3	Q96LB0	OTTHUMG00000166435	ENST00000396275.2:c.549G>T	11.37:g.18159298G>T	ENSP00000379571:p.Trp183Cys						p.W183C	NM_054031	NP_473372	Q96LB0	MRGX3_HUMAN			3	910	+			183			Helical; Name=5; (Potential).		B0M0L1|Q8TDE0|Q8TDE1	Missense_Mutation	SNP	ENST00000396275.2	37	c.549G>T	CCDS7830.1	.	.	.	.	.	.	.	.	.	.	G	3.191	-0.165807	0.06461	.	.	ENSG00000179826	ENST00000396275;ENST00000531264	T;T	0.36340	1.26;1.26	1.46	0.495	0.16890	GPCR, rhodopsin-like superfamily (1);	1.224290	0.05743	N	0.601678	T	0.53818	0.1820	M	0.88377	2.95	0.09310	N	1	P	0.40066	0.701	P	0.49637	0.617	T	0.43925	-0.9361	10	0.59425	D	0.04	.	3.8199	0.08832	0.2546:0.0:0.7454:0.0	.	183	Q96LB0	MRGX3_HUMAN	C	183	ENSP00000379571:W183C;ENSP00000436242:W183C	ENSP00000379571:W183C	W	+	3	0	MRGPRX3	18115874	0.617000	0.27043	0.001000	0.08648	0.002000	0.02628	-0.468000	0.06656	0.167000	0.19631	-0.450000	0.05554	TGG		0.512	MRGPRX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389767.1	NM_054031		6	101	1	0	8.12818e-05	0.001984	9.14868e-05	6	101				
LDHAL6A	160287	broad.mit.edu	37	11	18485532	18485532	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr11:18485532G>T	ENST00000280706.2	+	2	948	c.151G>T	c.(151-153)Gtg>Ttg	p.V51L	LDHAL6A_ENST00000396213.3_Missense_Mutation_p.V51L	NM_144972.4	NP_659409.2	Q6ZMR3	LDH6A_HUMAN	lactate dehydrogenase A-like 6A	51					cellular carbohydrate metabolic process (GO:0044262)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	L-lactate dehydrogenase activity (GO:0004459)	p.V51L(1)		large_intestine(3)|lung(9)|urinary_tract(1)	13						ACTTGTCCTTGTGGATGTTGA	0.378																																							uc001mop.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(151-153)GTG>TTG		lactate dehydrogenase A-like 6A	NADH(DB00157)						166.0	138.0	148.0					11																	18485532		2199	4293	6492	SO:0001583	missense	160287				glycolysis	cytoplasm	binding|L-lactate dehydrogenase activity	g.chr11:18485532G>T	AK131523	CCDS7841.1	11p15.1	2011-01-27			ENSG00000166800	ENSG00000166800			28335	protein-coding gene	gene with protein product						12477932	Standard	NM_001144071		Approved	MGC23940, LDH6A	uc001mop.1	Q6ZMR3	OTTHUMG00000167724	ENST00000280706.2:c.151G>T	11.37:g.18485532G>T	ENSP00000280706:p.Val51Leu					LDHAL6A_uc001moq.2_Missense_Mutation_p.V51L	p.V51L	NM_001144071	NP_001137543	Q6ZMR3	LDH6A_HUMAN			3	412	+			51			NAD (By similarity).		D3DQY5	Missense_Mutation	SNP	ENST00000280706.2	37	c.151G>T	CCDS7841.1	.	.	.	.	.	.	.	.	.	.	G	15.61	2.883646	0.51908	.	.	ENSG00000166800	ENST00000396213;ENST00000280706	D;D	0.91631	-2.88;-2.88	3.95	3.02	0.34903	Lactate/malate dehydrogenase, N-terminal (1);NAD(P)-binding domain (1);	0.233534	0.26341	U	0.024927	D	0.89588	0.6758	L	0.57130	1.785	0.53005	D	0.999963	P	0.37688	0.605	B	0.38985	0.287	D	0.90110	0.4191	10	0.87932	D	0	.	10.5128	0.44872	0.0998:0.0:0.9002:0.0	.	51	Q6ZMR3	LDH6A_HUMAN	L	51	ENSP00000379516:V51L;ENSP00000280706:V51L	ENSP00000280706:V51L	V	+	1	0	LDHAL6A	18442108	1.000000	0.71417	0.893000	0.35052	0.805000	0.45488	4.680000	0.61656	1.764000	0.52075	0.655000	0.94253	GTG		0.378	LDHAL6A-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395904.1	NM_144972		23	73	1	0	2.79863e-10	0.004656	3.91809e-10	23	73				
KCNA4	3739	broad.mit.edu	37	11	30033943	30033943	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr11:30033943C>T	ENST00000328224.6	-	2	1516	c.283G>A	c.(283-285)Gcc>Acc	p.A95T	KCNA4_ENST00000526518.1_5'Flank	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	95					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	potassium ion binding (GO:0030955)|voltage-gated potassium channel activity (GO:0005249)	p.A95T(2)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78					Dalfampridine(DB06637)	CGGTAGTGGGCTTTCTTCTTC	0.612																																							uc001msk.2		NA																	2	Substitution - Missense(2)		large_intestine(1)|lung(1)	ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.(283-285)GCC>ACC		potassium voltage-gated channel, shaker-related							42.0	44.0	44.0					11																	30033943		2088	4225	6313	SO:0001583	missense	3739					voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity	g.chr11:30033943C>T	M55514	CCDS41629.1	11p14	2012-07-05	2002-07-10			ENSG00000182255		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6222	protein-coding gene	gene with protein product		176266	"""potassium voltage-gated channel, shaker-related subfamily, member 4-like"""	KCNA4L		2263489, 16382104	Standard	NM_002233		Approved	Kv1.4, HK1, HPCN2	uc001msk.3	P22459		ENST00000328224.6:c.283G>A	11.37:g.30033943C>T	ENSP00000328511:p.Ala95Thr						p.A95T	NM_002233	NP_002224	P22459	KCNA4_HUMAN			2	1435	-			95						Missense_Mutation	SNP	ENST00000328224.6	37	c.283G>A	CCDS41629.1	.	.	.	.	.	.	.	.	.	.	C	1.643	-0.515995	0.04200	.	.	ENSG00000182255	ENST00000328224	D	0.96619	-4.07	4.73	-4.8	0.03190	.	.	.	.	.	D	0.87241	0.6128	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.78023	-0.2366	9	0.15066	T	0.55	.	3.8101	0.08793	0.111:0.2316:0.4612:0.1962	.	95	P22459	KCNA4_HUMAN	T	95	ENSP00000328511:A95T	ENSP00000328511:A95T	A	-	1	0	KCNA4	29990519	0.094000	0.21725	0.020000	0.16555	0.424000	0.31475	1.083000	0.30815	-0.489000	0.06716	-0.310000	0.09108	GCC		0.612	KCNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388074.2	NM_002233		17	26	0	0	0	0.006122	0	17	26				
CHST1	8534	broad.mit.edu	37	11	45671409	45671409	+	Silent	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr11:45671409G>T	ENST00000308064.2	-	4	1735	c.1065C>A	c.(1063-1065)gcC>gcA	p.A355A	CHST1_ENST00000533673.1_5'Flank|RP11-495O11.1_ENST00000525563.1_RNA	NM_003654.5	NP_003645.1	O43916	CHST1_HUMAN	carbohydrate (keratan sulfate Gal-6) sulfotransferase 1	355					carbohydrate metabolic process (GO:0005975)|galactose metabolic process (GO:0006012)|glycosaminoglycan metabolic process (GO:0030203)|inflammatory response (GO:0006954)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|polysaccharide metabolic process (GO:0005976)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	keratan sulfotransferase activity (GO:0045130)|sulfotransferase activity (GO:0008146)	p.A355A(1)		breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		TCTCGGCCGTGGCCGCCGAGT	0.672																																							uc001mys.1		NA																	1	Substitution - coding silent(1)		lung(1)	skin(4)|pancreas(1)	5						c.(1063-1065)GCC>GCA		carbohydrate (keratan sulfate Gal-6)							51.0	55.0	53.0					11																	45671409		2203	4298	6501	SO:0001819	synonymous_variant	8534				galactose metabolic process|inflammatory response|keratan sulfate metabolic process	Golgi membrane|integral to membrane	keratan sulfotransferase activity	g.chr11:45671409G>T	U65637	CCDS7913.1	11p11.2	2010-04-29			ENSG00000175264	ENSG00000175264		"""Sulfotransferases, membrane-bound"""	1969	protein-coding gene	gene with protein product		603797				9405439, 9639683	Standard	NM_003654		Approved	C6ST, KSGal6ST	uc001mys.2	O43916		ENST00000308064.2:c.1065C>A	11.37:g.45671409G>T							p.A355A	NM_003654	NP_003645	O43916	CHST1_HUMAN		GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)	4	1736	-			355			Lumenal (Potential).		D3DQP2	Silent	SNP	ENST00000308064.2	37	c.1065C>A	CCDS7913.1																																																																																				0.672	CHST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390127.1	NM_003654		89	46	1	0	3.05217e-42	0.00361	5.8305e-42	89	46				
MADD	8567	broad.mit.edu	37	11	47345865	47345865	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr11:47345865C>T	ENST00000311027.5	+	32	4757	c.4592C>T	c.(4591-4593)gCc>gTc	p.A1531V	MADD_ENST00000349238.3_Missense_Mutation_p.A1492V|MADD_ENST00000405573.2_Missense_Mutation_p.A341V|MADD_ENST00000406482.1_Missense_Mutation_p.A1429V|MADD_ENST00000402799.1_Missense_Mutation_p.A1429V|MADD_ENST00000407859.3_Missense_Mutation_p.A1449V|MADD_ENST00000395344.3_Missense_Mutation_p.A1425V|MADD_ENST00000402192.2_Missense_Mutation_p.A1471V|MADD_ENST00000395336.3_Missense_Mutation_p.A1531V|MADD_ENST00000342922.4_Missense_Mutation_p.A1472V	NM_003682.3	NP_003673.3			MAP-kinase activating death domain									p.A1531V(1)		breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		CGCGCTGCCGCCCGACAGCAA	0.587																																							uc001ner.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(4)|central_nervous_system(2)	11						c.(4591-4593)GCC>GTC		MAP-kinase activating death domain-containing							64.0	66.0	65.0					11																	47345865		2201	4298	6499	SO:0001583	missense	8567				activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity	g.chr11:47345865C>T	AB002356	CCDS7930.1, CCDS7931.1, CCDS7932.1, CCDS41642.1, CCDS44586.1, CCDS44587.1, CCDS44588.1, CCDS44589.1, CCDS44590.1	11p11.2	2012-10-04			ENSG00000110514	ENSG00000110514		"""DENN/MADD domain containing"""	6766	protein-coding gene	gene with protein product		603584				9115275, 9796103	Standard	NM_130476		Approved	DENN, KIAA0358, RAB3GEP	uc001ner.1	Q8WXG6	OTTHUMG00000150350	ENST00000311027.5:c.4592C>T	11.37:g.47345865C>T	ENSP00000310933:p.Ala1531Val					MADD_uc001neq.2_Missense_Mutation_p.A1472V|MADD_uc001nev.1_Missense_Mutation_p.A1429V|MADD_uc001nes.1_Missense_Mutation_p.A1449V|MADD_uc001net.1_Missense_Mutation_p.A1492V|MADD_uc009yln.1_Missense_Mutation_p.A1425V|MADD_uc001neu.1_Missense_Mutation_p.A1429V|MADD_uc001nex.2_Missense_Mutation_p.A1531V|MADD_uc001nez.2_Missense_Mutation_p.A1428V|MADD_uc001new.2_Missense_Mutation_p.A1471V|MADD_uc009ylo.2_Missense_Mutation_p.A445V	p.A1531V	NM_003682	NP_003673	Q8WXG6	MADD_HUMAN		Lung(87;0.182)	32	4783	+			1531						Missense_Mutation	SNP	ENST00000311027.5	37	c.4592C>T	CCDS7930.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.643511	0.87859	.	.	ENSG00000110514	ENST00000342922;ENST00000395342;ENST00000402799;ENST00000406482;ENST00000349238;ENST00000311027;ENST00000407859;ENST00000395344;ENST00000395336;ENST00000402192;ENST00000405573	T;T;T;T;T;T;T;T;T;T	0.49139	3.4;3.28;3.29;3.39;3.37;3.27;3.27;3.38;3.4;0.79	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.48390	0.1497	L	0.50333	1.59	0.80722	D	1	B;B;B;B;B;B;B;B;B;B;B	0.31209	0.286;0.051;0.051;0.123;0.021;0.021;0.084;0.313;0.141;0.075;0.313	B;B;B;B;B;B;B;B;B;B;B	0.31946	0.138;0.012;0.012;0.108;0.028;0.028;0.028;0.084;0.041;0.038;0.084	T	0.45116	-0.9283	10	0.52906	T	0.07	-18.7421	19.8881	0.96917	0.0:1.0:0.0:0.0	.	341;1425;1425;1531;1429;1429;1429;1492;1449;1531;1472	F8W8U2;B5MEE5;A8K8S7;Q8WXG6-7;F8W9P9;Q8WXG6-6;Q8WXG6-5;Q8WXG6-2;Q8WXG6-4;Q8WXG6;Q8WXG6-3	.;.;.;.;.;.;.;.;.;MADD_HUMAN;.	V	1472;1429;1429;1429;1492;1531;1449;1425;1531;1471;341	ENSP00000343902:A1472V;ENSP00000385585:A1429V;ENSP00000384435:A1429V;ENSP00000304505:A1492V;ENSP00000310933:A1531V;ENSP00000384204:A1449V;ENSP00000378753:A1425V;ENSP00000378745:A1531V;ENSP00000384287:A1471V;ENSP00000384483:A341V	ENSP00000310933:A1531V	A	+	2	0	MADD	47302441	1.000000	0.71417	0.999000	0.59377	0.966000	0.64601	7.479000	0.81095	2.708000	0.92522	0.555000	0.69702	GCC		0.587	MADD-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317746.1			10	17	0	0	0	0.008291	0	10	17				
OR4A47	403253	broad.mit.edu	37	11	48510487	48510487	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr11:48510487C>T	ENST00000446524.1	+	1	219	c.143C>T	c.(142-144)aCt>aTt	p.T48I		NM_001005512.2	NP_001005512.2	Q6IF82	O4A47_HUMAN	olfactory receptor, family 4, subfamily A, member 47	48						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						GTGACCGTAACTGTCAGTGAG	0.403																																							uc010rhx.1		NA																	0				ovary(1)|skin(1)	2						c.(142-144)ACT>ATT		olfactory receptor, family 4, subfamily A,							54.0	50.0	51.0					11																	48510487		2201	4297	6498	SO:0001583	missense	403253				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48510487C>T	BK004380	CCDS31490.1	11p11.2	2012-08-09			ENSG00000237388	ENSG00000237388		"""GPCR / Class A : Olfactory receptors"""	31266	protein-coding gene	gene with protein product							Standard	NM_001005512		Approved		uc010rhx.2	Q6IF82	OTTHUMG00000166581	ENST00000446524.1:c.143C>T	11.37:g.48510487C>T	ENSP00000412752:p.Thr48Ile						p.T48I	NM_001005512	NP_001005512	Q6IF82	O4A47_HUMAN			1	143	+			48			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000446524.1	37	c.143C>T	CCDS31490.1	.	.	.	.	.	.	.	.	.	.	N	0	-2.765101	0.00082	.	.	ENSG00000237388	ENST00000446524	T	0.01068	5.38	4.91	1.53	0.23141	GPCR, rhodopsin-like superfamily (1);	0.531023	0.17222	N	0.182306	T	0.00695	0.0023	N	0.13327	0.33	0.09310	N	1	B	0.14805	0.011	B	0.12156	0.007	T	0.47736	-0.9094	10	0.06365	T	0.9	.	5.3872	0.16224	0.0:0.4715:0.0:0.5285	.	48	Q6IF82	O4A47_HUMAN	I	48	ENSP00000412752:T48I	ENSP00000412752:T48I	T	+	2	0	OR4A47	48467063	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.538000	0.06120	0.473000	0.27368	0.561000	0.74099	ACT		0.403	OR4A47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390559.1	NM_001005512		5	49	0	0	0	0.00308	0	5	49				
OR4A5	81318	broad.mit.edu	37	11	51411781	51411781	+	Missense_Mutation	SNP	C	C	A	rs186323578		TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr11:51411781C>A	ENST00000319760.6	-	1	667	c.615G>T	c.(613-615)atG>atT	p.M205I		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	205						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.M205I(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				TGAAAATGACCATACAGATTG	0.433																																							uc001nhi.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(613-615)ATG>ATT		olfactory receptor, family 4, subfamily A,							62.0	59.0	60.0					11																	51411781		2201	4295	6496	SO:0001583	missense	81318				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:51411781C>A	AB065506	CCDS73289.1	11p11.12	2012-08-09			ENSG00000221840	ENSG00000221840		"""GPCR / Class A : Olfactory receptors"""	15162	protein-coding gene	gene with protein product							Standard	NM_001005272		Approved		uc001nhi.2	Q8NH83	OTTHUMG00000166764	ENST00000319760.6:c.615G>T	11.37:g.51411781C>A	ENSP00000367664:p.Met205Ile						p.M205I	NM_001005272	NP_001005272	Q8NH83	OR4A5_HUMAN			1	615	-		all_lung(304;0.236)	205			Helical; Name=5; (Potential).		Q6IF84	Missense_Mutation	SNP	ENST00000319760.6	37	c.615G>T	CCDS31497.1	.	.	.	.	.	.	.	.	.	.	.	0	-2.710961	0.00094	.	.	ENSG00000221840	ENST00000319760	T	0.34275	1.37	1.93	-1.68	0.08212	GPCR, rhodopsin-like superfamily (1);	0.442992	0.18664	N	0.134639	T	0.10078	0.0247	N	0.01824	-0.7	0.09310	N	1	B	0.06786	0.001	B	0.15484	0.013	T	0.19321	-1.0309	10	0.22706	T	0.39	.	2.7809	0.05360	0.2178:0.4548:0.0:0.3274	.	205	Q8NH83	OR4A5_HUMAN	I	205	ENSP00000367664:M205I	ENSP00000367664:M205I	M	-	3	0	OR4A5	51268357	0.000000	0.05858	0.001000	0.08648	0.047000	0.14425	-3.871000	0.00346	-0.440000	0.07211	0.162000	0.16502	ATG		0.433	OR4A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391399.1	NM_001005272		11	42	1	0	1.08611e-07	0.000978	1.37377e-07	11	42				
OR4A15	81328	broad.mit.edu	37	11	55136162	55136162	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr11:55136162G>T	ENST00000314706.3	+	1	803	c.803G>T	c.(802-804)tGt>tTt	p.C268F		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	268						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.C268S(1)|p.C268F(1)		NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						TTCTACACCTGTGCATCCCAC	0.423																																							uc010rif.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(802-804)TGT>TTT		olfactory receptor, family 4, subfamily A,							219.0	199.0	206.0					11																	55136162		2201	4296	6497	SO:0001583	missense	81328				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55136162G>T	AB065776	CCDS31500.1	11q11	2012-08-09			ENSG00000181958	ENSG00000181958		"""GPCR / Class A : Olfactory receptors"""	15152	protein-coding gene	gene with protein product							Standard	NM_001005275		Approved		uc010rif.2	Q8NGL6	OTTHUMG00000166711	ENST00000314706.3:c.803G>T	11.37:g.55136162G>T	ENSP00000325065:p.Cys268Phe						p.C268F	NM_001005275	NP_001005275	Q8NGL6	O4A15_HUMAN			1	803	+			268			Helical; Name=6; (Potential).		Q6IFL4|Q96R65	Missense_Mutation	SNP	ENST00000314706.3	37	c.803G>T	CCDS31500.1	.	.	.	.	.	.	.	.	.	.	-	24.3	4.515649	0.85389	.	.	ENSG00000181958	ENST00000314706	T	0.00368	7.75	3.65	3.65	0.41850	GPCR, rhodopsin-like superfamily (1);	0.000000	0.53938	D	0.000042	T	0.01454	0.0047	H	0.96662	3.86	0.48236	D	0.999615	D	0.56035	0.974	P	0.62491	0.903	T	0.27706	-1.0066	10	0.87932	D	0	.	12.9163	0.58207	0.0:0.0:1.0:0.0	.	268	Q8NGL6	O4A15_HUMAN	F	268	ENSP00000325065:C268F	ENSP00000325065:C268F	C	+	2	0	OR4A15	54892738	1.000000	0.71417	0.040000	0.18447	0.887000	0.51463	6.296000	0.72751	1.871000	0.54225	0.492000	0.49549	TGT		0.423	OR4A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391161.1	NM_001005275		27	135	1	0	2.79863e-10	0.004656	3.91809e-10	27	135				
OR4C6	219432	broad.mit.edu	37	11	55432949	55432949	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr11:55432949C>A	ENST00000314259.3	+	1	336	c.307C>A	c.(307-309)Cat>Aat	p.H103N		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	103						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.H103N(1)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						GTTTGTGGAGCATTTCTTTGG	0.532																																							uc001nht.3		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(307-309)CAT>AAT		olfactory receptor, family 4, subfamily C,							115.0	105.0	108.0					11																	55432949		2200	4296	6496	SO:0001583	missense	219432				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55432949C>A	CR593785	CCDS31506.1	11q11	2012-08-09			ENSG00000181903	ENSG00000181903		"""GPCR / Class A : Olfactory receptors"""	14743	protein-coding gene	gene with protein product							Standard	NM_001004704		Approved		uc010rik.2	Q8NH72	OTTHUMG00000166800	ENST00000314259.3:c.307C>A	11.37:g.55432949C>A	ENSP00000324769:p.His103Asn					OR4C6_uc010rik.1_Missense_Mutation_p.H103N	p.H103N	NM_001004704	NP_001004704	Q8NH72	OR4C6_HUMAN			3	572	+			103			Helical; Name=3; (Potential).		B2RP11|Q6IFD2	Missense_Mutation	SNP	ENST00000314259.3	37	c.307C>A	CCDS31506.1	.	.	.	.	.	.	.	.	.	.	C	9.359	1.067582	0.20067	.	.	ENSG00000181903	ENST00000314259	T	0.00547	6.66	3.3	2.39	0.29439	GPCR, rhodopsin-like superfamily (1);	0.000000	0.39544	N	0.001323	T	0.01800	0.0057	M	0.84156	2.68	0.22858	N	0.998641	D	0.64830	0.994	D	0.66847	0.947	T	0.23976	-1.0173	10	0.87932	D	0	.	8.4299	0.32750	0.0:0.8818:0.0:0.1182	.	103	Q8NH72	OR4C6_HUMAN	N	103	ENSP00000324769:H103N	ENSP00000324769:H103N	H	+	1	0	OR4C6	55189525	0.000000	0.05858	0.045000	0.18777	0.004000	0.04260	-1.616000	0.02053	0.568000	0.29311	-0.406000	0.06334	CAT		0.532	OR4C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391504.1	NM_001004704		14	49	1	0	0.000219431	0.00245	0.000244291	14	49				
OR5D14	219436	broad.mit.edu	37	11	55563911	55563911	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr11:55563911C>A	ENST00000335605.1	+	1	880	c.880C>A	c.(880-882)Cta>Ata	p.L294I		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	294						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L294I(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				GATCTACAGCCTAAGGAATAA	0.408																																							uc010rim.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(880-882)CTA>ATA		olfactory receptor, family 5, subfamily D,							52.0	51.0	51.0					11																	55563911		2200	4296	6496	SO:0001583	missense	219436				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55563911C>A	AB065779	CCDS31508.1	11q11	2012-08-09			ENSG00000186113	ENSG00000186113		"""GPCR / Class A : Olfactory receptors"""	15281	protein-coding gene	gene with protein product							Standard	NM_001004735		Approved		uc010rim.2	Q8NGL3	OTTHUMG00000166809	ENST00000335605.1:c.880C>A	11.37:g.55563911C>A	ENSP00000334456:p.Leu294Ile						p.L294I	NM_001004735	NP_001004735	Q8NGL3	OR5DE_HUMAN			1	880	+		all_epithelial(135;0.196)	294			Helical; Name=7; (Potential).		Q6IF69|Q6IFD4|Q96RB5	Missense_Mutation	SNP	ENST00000335605.1	37	c.880C>A	CCDS31508.1	.	.	.	.	.	.	.	.	.	.	c	15.48	2.847568	0.51164	.	.	ENSG00000186113	ENST00000335605	T	0.44881	0.91	5.08	1.77	0.24775	.	0.000000	0.33895	N	0.004453	T	0.62454	0.2429	M	0.87456	2.885	0.21290	N	0.99973	D	0.58268	0.982	D	0.65010	0.931	T	0.54820	-0.8236	10	0.87932	D	0	-10.4916	9.2432	0.37509	0.0:0.6844:0.0:0.3156	.	294	Q8NGL3	OR5DE_HUMAN	I	294	ENSP00000334456:L294I	ENSP00000334456:L294I	L	+	1	2	OR5D14	55320487	0.000000	0.05858	0.985000	0.45067	0.883000	0.51084	-0.723000	0.04952	0.551000	0.29008	0.643000	0.83706	CTA		0.408	OR5D14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391513.1	NM_001004735		18	51	1	0	1.2644e-06	0.010504	1.54572e-06	18	51				
OR5L2	26338	broad.mit.edu	37	11	55594726	55594726	+	Missense_Mutation	SNP	A	A	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr11:55594726A>T	ENST00000378397.1	+	1	32	c.32A>T	c.(31-33)gAg>gTg	p.E11V		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	11						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.E11V(1)		breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				ACTGTGGCTGAGTTCATTCTC	0.428										HNSCC(27;0.073)																													uc001nhy.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(31-33)GAG>GTG		olfactory receptor, family 5, subfamily L,							206.0	194.0	198.0					11																	55594726		2200	4294	6494	SO:0001583	missense	26338				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55594726A>T	AB065782	CCDS31511.1	11q11	2012-08-09			ENSG00000205030	ENSG00000205030		"""GPCR / Class A : Olfactory receptors"""	8351	protein-coding gene	gene with protein product						1370859	Standard	NM_001004739		Approved	HTPCRX16, HSHTPCRX16	uc001nhy.1	Q8NGL0	OTTHUMG00000166812	ENST00000378397.1:c.32A>T	11.37:g.55594726A>T	ENSP00000367650:p.Glu11Val	HNSCC(27;0.073)					p.E11V	NM_001004739	NP_001004739	Q8NGL0	OR5L2_HUMAN			1	32	+		all_epithelial(135;0.208)	11			Extracellular (Potential).		Q6IF66|Q96RB2	Missense_Mutation	SNP	ENST00000378397.1	37	c.32A>T	CCDS31511.1	.	.	.	.	.	.	.	.	.	.	.	11.92	1.783857	0.31593	.	.	ENSG00000205030	ENST00000378397	T	0.01139	5.28	5.31	5.31	0.75309	.	0.273172	0.25912	N	0.027485	T	0.02304	0.0071	M	0.71206	2.165	0.09310	N	1	P	0.48834	0.916	B	0.42625	0.393	T	0.42949	-0.9421	10	0.62326	D	0.03	-9.1107	10.6794	0.45804	0.8398:0.1602:0.0:0.0	.	11	Q8NGL0	OR5L2_HUMAN	V	11	ENSP00000367650:E11V	ENSP00000367650:E11V	E	+	2	0	OR5L2	55351302	0.007000	0.16637	0.799000	0.32177	0.520000	0.34377	1.998000	0.40796	2.173000	0.68751	0.509000	0.49947	GAG		0.428	OR5L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391516.1	NM_001004739		88	132	0	0	0	0.00361	0	88	132				
OR5M8	219484	broad.mit.edu	37	11	56258455	56258455	+	Missense_Mutation	SNP	T	T	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr11:56258455T>A	ENST00000327216.2	-	1	416	c.392A>T	c.(391-393)tAt>tTt	p.Y131F		NM_001005282.1	NP_001005282.1	Q8NGP6	OR5M8_HUMAN	olfactory receptor, family 5, subfamily M, member 8	131						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Y131F(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Esophageal squamous(21;0.00352)					TCTGCTGCCATAAAGCAGAGG	0.517																																							uc001nix.1		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(391-393)TAT>TTT		olfactory receptor, family 5, subfamily M,							94.0	80.0	85.0					11																	56258455		2201	4296	6497	SO:0001583	missense	219484				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56258455T>A	AB065744	CCDS31533.1	11q11	2012-08-09			ENSG00000181371	ENSG00000181371		"""GPCR / Class A : Olfactory receptors"""	14846	protein-coding gene	gene with protein product							Standard	NM_001005282		Approved		uc001nix.1	Q8NGP6	OTTHUMG00000166877	ENST00000327216.2:c.392A>T	11.37:g.56258455T>A	ENSP00000323354:p.Tyr131Phe						p.Y131F	NM_001005282	NP_001005282	Q8NGP6	OR5M8_HUMAN			1	392	-	Esophageal squamous(21;0.00352)		131			Cytoplasmic (Potential).		B2RNM5|Q6IEW3|Q96RB8	Missense_Mutation	SNP	ENST00000327216.2	37	c.392A>T	CCDS31533.1	.	.	.	.	.	.	.	.	.	.	T	17.78	3.474564	0.63737	.	.	ENSG00000181371	ENST00000327216	T	0.30448	1.53	4.41	3.27	0.37495	GPCR, rhodopsin-like superfamily (1);	0.000000	0.36444	N	0.002598	T	0.68155	0.2970	H	0.99011	4.4	0.35223	D	0.776242	D	0.89917	1.0	D	0.87578	0.998	T	0.78643	-0.2124	10	0.87932	D	0	-14.2678	8.2395	0.31652	0.0:0.098:0.0:0.902	.	131	Q8NGP6	OR5M8_HUMAN	F	131	ENSP00000323354:Y131F	ENSP00000323354:Y131F	Y	-	2	0	OR5M8	56015031	1.000000	0.71417	0.968000	0.41197	0.606000	0.37113	7.980000	0.88113	0.662000	0.31006	-0.269000	0.10298	TAT		0.517	OR5M8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391641.1	NM_001005282		12	55	0	0	0	0.001855	0	12	55				
OR10Q1	219960	broad.mit.edu	37	11	57995501	57995501	+	Missense_Mutation	SNP	A	A	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr11:57995501A>T	ENST00000316770.2	-	1	889	c.847T>A	c.(847-849)Tac>Aac	p.Y283N		NM_001004471.2	NP_001004471.1	Q8NGQ4	O10Q1_HUMAN	olfactory receptor, family 10, subfamily Q, member 1	283						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Y283N(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)	35		Breast(21;0.0589)				ACAAAGGTGTAGACCAACGCG	0.552																																							uc010rkd.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(847-849)TAC>AAC		olfactory receptor, family 10, subfamily Q,							133.0	119.0	124.0					11																	57995501		2201	4295	6496	SO:0001583	missense	219960				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57995501A>T	AB065735	CCDS31547.1	11q12.1	2012-08-09			ENSG00000180475	ENSG00000180475		"""GPCR / Class A : Olfactory receptors"""	15134	protein-coding gene	gene with protein product							Standard	NM_001004471		Approved		uc010rkd.2	Q8NGQ4	OTTHUMG00000167542	ENST00000316770.2:c.847T>A	11.37:g.57995501A>T	ENSP00000314324:p.Tyr283Asn						p.Y283N	NM_001004471	NP_001004471	Q8NGQ4	O10Q1_HUMAN			1	847	-		Breast(21;0.0589)	283			Helical; Name=7; (Potential).		Q6IFG4	Missense_Mutation	SNP	ENST00000316770.2	37	c.847T>A	CCDS31547.1	.	.	.	.	.	.	.	.	.	.	A	14.10	2.435283	0.43224	.	.	ENSG00000180475	ENST00000316770	T	0.00321	8.11	5.07	5.07	0.68467	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38720	N	0.001597	T	0.00724	0.0024	M	0.82716	2.605	0.33211	D	0.553418	D	0.89917	1.0	D	0.79784	0.993	T	0.53301	-0.8458	10	0.87932	D	0	.	13.8047	0.63223	1.0:0.0:0.0:0.0	.	283	Q8NGQ4	O10Q1_HUMAN	N	283	ENSP00000314324:Y283N	ENSP00000314324:Y283N	Y	-	1	0	OR10Q1	57752077	0.615000	0.27026	1.000000	0.80357	0.292000	0.27327	3.078000	0.50096	2.132000	0.65825	0.528000	0.53228	TAC		0.552	OR10Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394706.1	NM_001004471		14	83	0	0	0	0.001855	0	14	83				
OR5B3	441608	broad.mit.edu	37	11	58169980	58169980	+	Missense_Mutation	SNP	T	T	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr11:58169980T>A	ENST00000309403.2	-	1	902	c.903A>T	c.(901-903)aaA>aaT	p.K301N		NM_001005469.1	NP_001005469.1	Q8NH48	OR5B3_HUMAN	olfactory receptor, family 5, subfamily B, member 3	301						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.K301N(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1)	34	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TCTCAACAACTTTCTTGAATG	0.423																																							uc010rkf.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(901-903)AAA>AAT		olfactory receptor, family 5, subfamily B,							161.0	133.0	142.0					11																	58169980		2201	4295	6496	SO:0001583	missense	441608				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:58169980T>A	AB065545	CCDS31549.1	11q12.1	2012-08-09			ENSG00000172769	ENSG00000172769		"""GPCR / Class A : Olfactory receptors"""	8324	protein-coding gene	gene with protein product				OR5B13			Standard	NM_001005469		Approved	OST129	uc010rkf.2	Q8NH48	OTTHUMG00000167516	ENST00000309403.2:c.903A>T	11.37:g.58169980T>A	ENSP00000308270:p.Lys301Asn						p.K301N	NM_001005469	NP_001005469	Q8NH48	OR5B3_HUMAN			1	903	-	Esophageal squamous(5;0.0027)	Breast(21;0.0778)	301			Cytoplasmic (Potential).		Q6IEV6	Missense_Mutation	SNP	ENST00000309403.2	37	c.903A>T	CCDS31549.1	.	.	.	.	.	.	.	.	.	.	t	11.25	1.582422	0.28180	.	.	ENSG00000172769	ENST00000309403	T	0.41065	1.01	3.92	-0.449	0.12226	.	0.155529	0.30365	N	0.009790	T	0.36138	0.0956	M	0.64170	1.965	0.09310	N	1	B	0.31752	0.338	B	0.33620	0.167	T	0.32508	-0.9904	10	0.62326	D	0.03	-27.1877	7.6882	0.28552	0.0:0.3889:0.0:0.6111	.	301	Q8NH48	OR5B3_HUMAN	N	301	ENSP00000308270:K301N	ENSP00000308270:K301N	K	-	3	2	OR5B3	57926556	0.002000	0.14202	0.003000	0.11579	0.061000	0.15899	0.047000	0.14056	0.004000	0.14682	-0.274000	0.10170	AAA		0.423	OR5B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394886.1	NM_001005469		11	111	0	0	0	0.001368	0	11	111				
OR5B12	390191	broad.mit.edu	37	11	58207585	58207585	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr11:58207585C>A	ENST00000302572.2	-	1	61	c.40G>T	c.(40-42)Ggg>Tgg	p.G14W		NM_001004733.2	NP_001004733.1	Q96R08	OR5BC_HUMAN	olfactory receptor, family 5, subfamily B, member 12	14						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G14W(1)		large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1)	40	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TCAGTTAACCCCACAAGGATG	0.438																																							uc010rkh.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(40-42)GGG>TGG		olfactory receptor, family 5, subfamily B,							90.0	100.0	97.0					11																	58207585		2201	4295	6496	SO:0001583	missense	390191				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:58207585C>A	AB065851	CCDS31551.1	11q12.1	2012-08-09		2004-03-10	ENSG00000172362	ENSG00000172362		"""GPCR / Class A : Olfactory receptors"""	15432	protein-coding gene	gene with protein product				OR5B12P, OR5B16		12213199	Standard	NM_001004733		Approved	OST743	uc010rkh.2	Q96R08	OTTHUMG00000167543	ENST00000302572.2:c.40G>T	11.37:g.58207585C>A	ENSP00000306657:p.Gly14Trp						p.G14W	NM_001004733	NP_001004733	Q96R08	OR5BC_HUMAN			1	40	-	Esophageal squamous(5;0.0027)	Breast(21;0.0778)	14			Extracellular (Potential).		B2RNL2|Q6IEV5	Missense_Mutation	SNP	ENST00000302572.2	37	c.40G>T	CCDS31551.1	.	.	.	.	.	.	.	.	.	.	C	12.53	1.965888	0.34659	.	.	ENSG00000172362	ENST00000302572	T	0.00662	5.93	4.87	4.87	0.63330	.	0.000000	0.44688	D	0.000434	T	0.09423	0.0232	H	0.97707	4.06	0.24923	N	0.991961	D	0.89917	1.0	D	0.91635	0.999	T	0.13629	-1.0502	10	0.87932	D	0	-0.0992	17.5271	0.87803	0.0:1.0:0.0:0.0	.	14	Q96R08	OR5BC_HUMAN	W	14	ENSP00000306657:G14W	ENSP00000306657:G14W	G	-	1	0	OR5B12	57964161	0.994000	0.37717	0.443000	0.26883	0.035000	0.12851	5.006000	0.63978	2.691000	0.91804	0.655000	0.94253	GGG		0.438	OR5B12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394987.1	NM_001004733		32	54	1	0	1.67305e-13	0.00623	2.59856e-13	32	54				
SLC15A3	51296	broad.mit.edu	37	11	60714008	60714008	+	Missense_Mutation	SNP	C	C	G			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr11:60714008C>G	ENST00000227880.3	-	2	1077	c.844G>C	c.(844-846)Gcc>Ccc	p.A282P		NM_016582.2	NP_057666.1	Q8IY34	S15A3_HUMAN	solute carrier family 15 (oligopeptide transporter), member 3	282					ion transport (GO:0006811)|peptide transport (GO:0015833)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	symporter activity (GO:0015293)	p.A282P(1)		central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)	17						CCTTACCTGGCCGAGTGTCGT	0.622																																							uc001nqn.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(844-846)GCC>CCC		solute carrier family 15, member 3							37.0	41.0	39.0					11																	60714008		2203	4299	6502	SO:0001583	missense	51296				oligopeptide transport|protein transport	integral to membrane|lysosomal membrane	peptide:hydrogen symporter activity	g.chr11:60714008C>G	AB020598	CCDS7998.1	11q12.2	2013-07-18	2013-07-18		ENSG00000110446	ENSG00000110446		"""Solute carriers"""	18068	protein-coding gene	gene with protein product		610408	"""solute carrier family 15, member 3"""			11336635, 11741232	Standard	NM_016582		Approved	PHT2, hPTR3	uc001nqn.2	Q8IY34	OTTHUMG00000167804	ENST00000227880.3:c.844G>C	11.37:g.60714008C>G	ENSP00000227880:p.Ala282Pro					SLC15A3_uc001nqo.2_Missense_Mutation_p.A282P	p.A282P	NM_016582	NP_057666	Q8IY34	S15A3_HUMAN			2	1078	-			282					Q9P2X9	Missense_Mutation	SNP	ENST00000227880.3	37	c.844G>C	CCDS7998.1	.	.	.	.	.	.	.	.	.	.	C	9.353	1.066084	0.20067	.	.	ENSG00000110446	ENST00000227880;ENST00000536491;ENST00000538739	T;T;T	0.48522	3.68;3.68;0.81	4.6	1.5	0.22942	Major facilitator superfamily domain, general substrate transporter (1);	1.213640	0.05798	N	0.611708	T	0.33962	0.0881	N	0.24115	0.695	0.09310	N	1	B;B	0.32425	0.045;0.371	B;B	0.36608	0.034;0.229	T	0.31081	-0.9956	10	0.35671	T	0.21	.	3.2524	0.06819	0.3725:0.375:0.0:0.2525	.	282;282	F5H1C8;Q8IY34	.;S15A3_HUMAN	P	282;95;149	ENSP00000227880:A282P;ENSP00000439535:A95P;ENSP00000441559:A149P	ENSP00000227880:A282P	A	-	1	0	SLC15A3	60470584	0.002000	0.14202	0.024000	0.17045	0.031000	0.12232	0.184000	0.16939	0.213000	0.20722	-0.397000	0.06425	GCC		0.622	SLC15A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396366.1	NM_016582		8	24	0	0	0	0.00308	0	8	24				
RTN3	10313	broad.mit.edu	37	11	63487648	63487649	+	Missense_Mutation	DNP	GG	GG	TT	rs150093726	byFrequency	TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr11:63487648_63487649GG>TT	ENST00000377819.5	+	3	1828_1829	c.1674_1675GG>TT	c.(1672-1677)ttGGtc>ttTTtc	p.558_559LV>FF	RTN3_ENST00000354497.4_Intron|RTN3_ENST00000356000.3_Intron|RTN3_ENST00000341307.2_Intron|RTN3_ENST00000537981.1_Intron|RTN3_ENST00000540798.1_Missense_Mutation_p.446_447LV>FF|RTN3_ENST00000339997.4_Missense_Mutation_p.539_540LV>FF	NM_001265589.1	NP_001252518.1	O95197	RTN3_HUMAN	reticulon 3	558					apoptotic process (GO:0006915)|endoplasmic reticulum tubular network organization (GO:0071786)|response to stress (GO:0006950)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)		p.L539_V540>FF(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						TTGAAGAATTGGTCAGTGACTC	0.406																																							uc001nxq.2		NA																	1	Complex - compound substitution(1)		lung(1)	ovary(1)	1						c.(1672-1677)TTGGTC>TTTTTC		reticulon 3 isoform b																																				SO:0001583	missense	10313				apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport	endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane		g.chr11:63487648_63487649GG>TT	AF059524	CCDS8048.1, CCDS8049.1, CCDS8050.1, CCDS41664.1, CCDS58141.1, CCDS58142.1, CCDS58143.1	11q13	2011-01-14			ENSG00000133318	ENSG00000133318			10469	protein-coding gene	gene with protein product	"""neuroendocrine-specific protein-like 2"", ""NSP-like protein II"", ""isoforme III"", ""ASY interacting protein"", ""homolog of ASY protein"""	604249				10331947	Standard	NM_006054		Approved	NSPL2, NSPLII, ASYIP, HAP, RTN3-A1	uc001nxq.3	O95197		Exception_encountered	11.37:g.63487648_63487649delinsTT	ENSP00000367050:p.L558_V559delinsFF					RTN3_uc001nxo.2_Intron|RTN3_uc001nxm.2_Intron|RTN3_uc001nxn.2_Missense_Mutation_p.539_540LV>FF|RTN3_uc001nxp.2_Intron|RTN3_uc009yov.2_Missense_Mutation_p.446_447LV>FF|RTN3_uc010rmt.1_Intron|RTN3_uc010rmu.1_Intron	p.558_559LV>FF	NM_201428	NP_958831	O95197	RTN3_HUMAN			3	1861_1862	+			558_559					B3KQS2|B7Z308|B7Z4M0|F5H774|Q147U9|Q496K2|Q53GN3|Q59EP0|Q5UEP2|Q6T930|Q7RTM7|Q7RTM8|Q7RTN3	Missense_Mutation	DNP	ENST00000377819.5	37	c.1674_1675GG>TT	CCDS58141.1																																																																																				0.406	RTN3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000397846.1	NM_006054		33	27	0	0	0	0.004672	0	33	27				
MARK2	2011	broad.mit.edu	37	11	63666130	63666130	+	Nonsense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr11:63666130G>T	ENST00000509502.2	+	5	752	c.289G>T	c.(289-291)Gag>Tag	p.E97*	MARK2_ENST00000513765.2_Nonsense_Mutation_p.E97*|MARK2_ENST00000508192.1_Nonsense_Mutation_p.E130*|MARK2_ENST00000361128.5_Nonsense_Mutation_p.E130*|MARK2_ENST00000377810.3_Nonsense_Mutation_p.E97*|MARK2_ENST00000502399.3_Nonsense_Mutation_p.E130*|MARK2_ENST00000377809.4_Nonsense_Mutation_p.E130*|MARK2_ENST00000350490.7_Nonsense_Mutation_p.E130*|MARK2_ENST00000413835.2_Nonsense_Mutation_p.E130*|MARK2_ENST00000408948.3_Nonsense_Mutation_p.E97*|MARK2_ENST00000315032.8_Nonsense_Mutation_p.E130*|MARK2_ENST00000402010.2_Nonsense_Mutation_p.E130*|MARK2_ENST00000425897.2_Nonsense_Mutation_p.E97*	NM_017490.3	NP_059672.2			MAP/microtubule affinity-regulating kinase 2									p.E97*(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						CCTTGTCATGGAGTACGCTAG	0.498																																							uc001nxw.2		NA																	1	Substitution - Nonsense(1)		lung(1)	stomach(1)|ovary(1)|lung(1)	3						c.(388-390)GAG>TAG		MAP/microtubule affinity-regulating kinase 2							161.0	148.0	153.0					11																	63666130		2201	4297	6498	SO:0001587	stop_gained	2011				cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress	plasma membrane	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr11:63666130G>T	BC008771	CCDS8051.1, CCDS41665.1, CCDS8051.2, CCDS53649.1, CCDS53650.1, CCDS53651.1	11q13.1	2013-06-27	2002-07-26	2002-08-01	ENSG00000072518	ENSG00000072518			3332	protein-coding gene	gene with protein product	"""ELKL motif kinase 1"", ""serine/threonine kinase"", ""protein-serine/threonine kinase"", ""Ser/Thr protein kinase PAR-1B"""	600526	"""ELKL motif kinase"""	EMK1		9730619, 10516437	Standard	NM_017490		Approved	PAR-1, Par1b, PAR-1B	uc001nxw.3	Q7KZI7	OTTHUMG00000160504	ENST00000509502.2:c.289G>T	11.37:g.63666130G>T	ENSP00000423974:p.Glu97*					MARK2_uc001nxx.2_Nonsense_Mutation_p.E130*|MARK2_uc001nxy.2_Nonsense_Mutation_p.E130*|MARK2_uc001nxv.3_Nonsense_Mutation_p.E130*|MARK2_uc001nxz.3_Nonsense_Mutation_p.E97*|MARK2_uc009yoy.2_Nonsense_Mutation_p.E97*	p.E130*	NM_001039469	NP_001034558	Q7KZI7	MARK2_HUMAN			5	967	+			130			Protein kinase.			Nonsense_Mutation	SNP	ENST00000509502.2	37	c.388G>T	CCDS41665.1	.	.	.	.	.	.	.	.	.	.	G	39	7.911350	0.98557	.	.	ENSG00000072518	ENST00000402010;ENST00000315032;ENST00000377809;ENST00000413835;ENST00000377810;ENST00000508192;ENST00000361128;ENST00000350490;ENST00000502399;ENST00000543220;ENST00000540169;ENST00000509502;ENST00000513765;ENST00000408948;ENST00000425897	.	.	.	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	16.42	0.83755	0.0:0.0:1.0:0.0	.	.	.	.	X	130;130;130;130;97;130;130;130;130;97;97;97;97;97;97	.	ENSP00000326632:E130X	E	+	1	0	MARK2	63422706	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.489000	0.81451	2.735000	0.93741	0.563000	0.77884	GAG		0.498	MARK2-003	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000360862.2	NM_017490		39	41	1	0	1.00001e-27	0.009718	1.82828e-27	39	41				
SF1	7536	broad.mit.edu	37	11	64537758	64537758	+	Missense_Mutation	SNP	T	T	C			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr11:64537758T>C	ENST00000377390.3	-	4	696	c.359A>G	c.(358-360)aAt>aGt	p.N120S	SF1_ENST00000227503.9_Missense_Mutation_p.N120S|SF1_ENST00000377387.1_Missense_Mutation_p.N245S|SF1_ENST00000433274.2_Missense_Mutation_p.N94S|SF1_ENST00000489544.1_5'Flank|SF1_ENST00000334944.5_Missense_Mutation_p.N120S|SF1_ENST00000377394.3_Missense_Mutation_p.N120S|SF1_ENST00000422298.2_Missense_Mutation_p.N5S	NM_004630.3	NP_004621.2	Q15637	SF01_HUMAN	splicing factor 1	120					Leydig cell differentiation (GO:0033327)|male sex determination (GO:0030238)|mRNA 3'-splice site recognition (GO:0000389)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of smooth muscle cell proliferation (GO:0048662)|regulation of steroid biosynthetic process (GO:0050810)|regulation of transcription, DNA-templated (GO:0006355)|spliceosomal complex assembly (GO:0000245)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|ribosome (GO:0005840)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.N120S(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	31						GAAATCCGGATTGAGTGCAAC	0.547																																							uc001obb.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)|skin(1)	3						c.(358-360)AAT>AGT		splicing factor 1 isoform 1							150.0	143.0	145.0					11																	64537758		2201	4297	6498	SO:0001583	missense	7536				nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ribosome|spliceosomal complex	protein binding|RNA binding|transcription corepressor activity|zinc ion binding	g.chr11:64537758T>C	D26120	CCDS8080.1, CCDS8081.1, CCDS31599.1, CCDS44642.1, CCDS44642.2, CCDS53660.1, CCDS53661.1	11q13	2014-09-17	2001-12-19	2002-01-11	ENSG00000168066	ENSG00000168066		"""Zinc fingers, CCHC domain containing"""	12950	protein-coding gene	gene with protein product		601516	"""zinc finger protein 162"""	ZNF162		7912130, 9573336	Standard	NM_201997		Approved	ZFM1, ZCCHC25	uc001oaz.2	Q15637	OTTHUMG00000066833	ENST00000377390.3:c.359A>G	11.37:g.64537758T>C	ENSP00000366607:p.Asn120Ser					SF1_uc010rnm.1_5'Flank|SF1_uc010rnn.1_Missense_Mutation_p.N94S|SF1_uc001oaz.1_Missense_Mutation_p.N245S|SF1_uc001oba.1_Missense_Mutation_p.N120S|SF1_uc001obc.1_Missense_Mutation_p.N120S|SF1_uc001obd.1_Missense_Mutation_p.N120S|SF1_uc001obe.1_Missense_Mutation_p.N5S|SF1_uc010rno.1_Missense_Mutation_p.N5S	p.N120S	NM_004630	NP_004621	Q15637	SF01_HUMAN			4	736	-			120					B7Z1Q1|C9JJE2|Q14818|Q14819|Q15913|Q8IY00|Q92744|Q92745|Q969H7|Q9BW01|Q9UEI0	Missense_Mutation	SNP	ENST00000377390.3	37	c.359A>G	CCDS31599.1	.	.	.	.	.	.	.	.	.	.	T	14.87	2.663157	0.47572	.	.	ENSG00000168066	ENST00000377387;ENST00000377390;ENST00000227503;ENST00000377394;ENST00000334944;ENST00000422298;ENST00000433274	T;T;T;T;T;T;T	0.50001	0.76;0.81;0.81;0.84;0.77;0.81;0.8	5.95	4.81	0.61882	.	0.089999	0.64402	D	0.000001	T	0.52175	0.1718	M	0.69358	2.11	0.58432	D	0.999993	P;P;P;P;P;P	0.49862	0.929;0.82;0.89;0.671;0.778;0.778	P;B;P;B;P;P	0.49799	0.515;0.395;0.495;0.326;0.526;0.622	T	0.48581	-0.9023	10	0.19147	T	0.46	.	11.6992	0.51560	0.0:0.0:0.1481:0.8519	.	5;120;120;120;120;245	B4DX42;Q15637-6;Q15637-4;Q15637;Q15637-2;Q15637-5	.;.;.;SF01_HUMAN;.;.	S	245;120;120;120;120;5;94	ENSP00000366604:N245S;ENSP00000366607:N120S;ENSP00000227503:N120S;ENSP00000366611:N120S;ENSP00000334414:N120S;ENSP00000413084:N5S;ENSP00000396793:N94S	ENSP00000227503:N120S	N	-	2	0	SF1	64294334	1.000000	0.71417	1.000000	0.80357	0.145000	0.21501	7.471000	0.80985	1.059000	0.40554	0.460000	0.39030	AAT		0.547	SF1-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000143242.1	NM_004630		78	53	0	0	0	0.00361	0	78	53				
SSSCA1	10534	broad.mit.edu	37	11	65338163	65338163	+	Silent	SNP	G	G	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr11:65338163G>A	ENST00000309328.3	+	2	170	c.108G>A	c.(106-108)cgG>cgA	p.R36R	SSSCA1-AS1_ENST00000567594.1_RNA|FAM89B_ENST00000530349.1_5'Flank|FAM89B_ENST00000449319.2_5'Flank|FAM89B_ENST00000316409.2_5'Flank|SSSCA1_ENST00000531405.1_5'UTR|SSSCA1_ENST00000527920.1_5'UTR|SSSCA1_ENST00000526877.1_Silent_p.R36R	NM_006396.1	NP_006387.1	O60232	SSA27_HUMAN	Sjogren syndrome/scleroderma autoantigen 1	36					mitotic nuclear division (GO:0007067)			p.R36R(1)		kidney(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	8						GCATCTCCCGGCTCATGGGCG	0.672																																							uc001oek.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(106-108)CGG>CGA		Sjogren syndrome/scleroderma autoantigen 1							32.0	38.0	36.0					11																	65338163		2200	4297	6497	SO:0001819	synonymous_variant	10534				cell division|mitosis		protein binding	g.chr11:65338163G>A	AB001740	CCDS8104.1	11q13.1	2007-10-04	2007-10-04			ENSG00000173465			11328	protein-coding gene	gene with protein product		606044	"""Sjogren's syndrome/scleroderma autoantigen 1"""			9486406	Standard	NM_006396		Approved	p27	uc001oek.3	O60232		ENST00000309328.3:c.108G>A	11.37:g.65338163G>A						FAM89B_uc001oen.2_5'Flank|FAM89B_uc001oem.2_5'Flank|FAM89B_uc001oel.2_5'Flank	p.R36R	NM_006396	NP_006387	O60232	SSA27_HUMAN			2	128	+			36						Silent	SNP	ENST00000309328.3	37	c.108G>A	CCDS8104.1	.	.	.	.	.	.	.	.	.	.	G	10.54	1.378817	0.24944	.	.	ENSG00000173465	ENST00000526433	.	.	.	5.64	-0.54	0.11861	.	.	.	.	.	T	0.39860	0.1094	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.24835	-1.0149	4	.	.	.	-19.5123	1.0801	0.01641	0.2644:0.1225:0.3767:0.2365	.	.	.	.	D	4	.	.	G	+	2	0	SSSCA1	65094739	1.000000	0.71417	0.994000	0.49952	0.710000	0.40934	1.630000	0.37081	-0.002000	0.14469	0.555000	0.69702	GGC		0.672	SSSCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389511.1	NM_006396		17	13	0	0	0	0.00499	0	17	13				
FAT3	120114	broad.mit.edu	37	11	92616381	92616381	+	Silent	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr11:92616381G>T	ENST00000298047.6	+	23	12776	c.12759G>T	c.(12757-12759)gtG>gtT	p.V4253V	FAT3_ENST00000533797.1_Silent_p.V588V|FAT3_ENST00000525166.1_Silent_p.V4103V|FAT3_ENST00000409404.2_Silent_p.V4253V			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	4253					homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.V4253V(2)|p.V828V(1)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ATAAGATCGTGGACGGGCTGG	0.667										TCGA Ovarian(4;0.039)																													uc001pdj.3		NA																	3	Substitution - coding silent(3)		lung(3)	ovary(4)|pancreas(1)	5						c.(12757-12759)GTG>GTT		FAT tumor suppressor homolog 3							76.0	92.0	87.0					11																	92616381		2120	4221	6341	SO:0001819	synonymous_variant	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92616381G>T	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.12759G>T	11.37:g.92616381G>T		TCGA Ovarian(4;0.039)				FAT3_uc001pdi.3_Silent_p.V693V	p.V4253V	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN			23	12776	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	4253			Cytoplasmic (Potential).		B5MDB0|Q96AU6	Silent	SNP	ENST00000298047.6	37	c.12759G>T																																																																																					0.667	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		60	58	1	0	1.88225e-35	0.00361	3.55575e-35	60	58				
FOLR4	390243	broad.mit.edu	37	11	94040669	94040669	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr11:94040669G>T	ENST00000440961.2	+	4	587	c.543G>T	c.(541-543)aaG>aaT	p.K181N		NM_001199206.1	NP_001186135.1	A6ND01	JUNO_HUMAN	folate receptor 4, delta (putative)	188					cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.K182N(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14						TGTGTGAGAAGACTTGGAGCA	0.607																																							uc010rud.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(541-543)AAG>AAT		folate receptor 4 (delta) homolog							84.0	89.0	88.0					11																	94040669		2007	4155	6162	SO:0001583	missense	390243					extracellular region	folic acid binding|receptor activity	g.chr11:94040669G>T			11q14	2014-07-23	2012-12-07		ENSG00000183560	ENSG00000183560			32565	protein-coding gene	gene with protein product		615737	"""folate receptor 4 (delta) homolog (mouse)"""			11111049, 24739963	Standard	NM_001199206		Approved	Folbp3, JUNO	uc021qou.1	A6ND01		ENST00000440961.2:c.543G>T	11.37:g.94040669G>T	ENSP00000416935:p.Lys181Asn						p.K181N	NM_001080486	NP_001073955	A6ND01	FOLR4_HUMAN			4	543	+			188						Missense_Mutation	SNP	ENST00000440961.2	37	c.543G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.11|16.11	3.030737|3.030737	0.54790|0.54790	.|.	.|.	ENSG00000183560|ENSG00000183560	ENST00000440961|ENST00000328458	T|.	0.77098|.	-1.07|.	4.23|4.23	4.23|4.23	0.50019|0.50019	.|.	0.288644|.	0.38548|.	N|.	0.001649|.	T|T	0.58163|0.58163	0.2103|0.2103	L|L	0.39514|0.39514	1.22|1.22	0.41295|0.41295	D|D	0.987001|0.987001	B|.	0.30104|.	0.268|.	B|.	0.29663|.	0.105|.	T|T	0.55528|0.55528	-0.8127|-0.8127	10|5	0.22706|.	T|.	0.39|.	-6.7082|-6.7082	14.4696|14.4696	0.67506|0.67506	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	181|.	A6ND01-2|.	.|.	N|I	181|182	ENSP00000416935:K181N|.	ENSP00000416935:K181N|.	K|R	+|+	3|2	2|0	FOLR4|FOLR4	93680317|93680317	1.000000|1.000000	0.71417|0.71417	0.899000|0.899000	0.35326|0.35326	0.889000|0.889000	0.51656|0.51656	1.936000|1.936000	0.40183|0.40183	2.366000|2.366000	0.80165|0.80165	0.491000|0.491000	0.48974|0.48974	AAG|AGA		0.607	FOLR4-002	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000396420.1	NM_001080486		15	48	1	0	1.99824e-07	0.00499	2.50269e-07	15	48				
TRPC6	7225	broad.mit.edu	37	11	101375480	101375480	+	Nonsense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr11:101375480C>A	ENST00000344327.3	-	2	644	c.220G>T	c.(220-222)Gag>Tag	p.E74*	TRPC6_ENST00000526713.1_5'UTR|TRPC6_ENST00000532133.1_Nonsense_Mutation_p.E74*|TRPC6_ENST00000348423.4_Nonsense_Mutation_p.E74*|TRPC6_ENST00000360497.4_Nonsense_Mutation_p.E74*	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	74					aging (GO:0007568)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|ion transmembrane transport (GO:0034220)|platelet activation (GO:0030168)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ion transmembrane transporter activity (GO:0032414)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)	p.E74*(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		CTCCCCTTCTCACGGAGAACT	0.463																																					Colon(166;1315 1927 11094 12848 34731)	Colon(166;1315 1927 11094 12848 34731)	uc001pgk.3		NA																	1	Substitution - Nonsense(1)		lung(1)	skin(2)|ovary(1)|central_nervous_system(1)	4						c.(220-222)GAG>TAG		transient receptor potential cation channel,							84.0	91.0	89.0					11																	101375480		2203	4299	6502	SO:0001587	stop_gained	7225				axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding	g.chr11:101375480C>A	AJ006276	CCDS8311.1	11q22.1	2014-02-04				ENSG00000137672		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12338	protein-coding gene	gene with protein product		603652	"""focal segmental glomerulosclerosis 2"""	FSGS2		9925922, 16382100, 15879175	Standard	NM_004621		Approved	TRP6	uc001pgk.4	Q9Y210		ENST00000344327.3:c.220G>T	11.37:g.101375480C>A	ENSP00000340913:p.Glu74*					TRPC6_uc009ywy.2_Nonsense_Mutation_p.E74*|TRPC6_uc009ywz.1_Nonsense_Mutation_p.E74*	p.E74*	NM_004621	NP_004612	Q9Y210	TRPC6_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.0442)	2	645	-		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)	74			Cytoplasmic (Potential).		Q52M59|Q9HCW3|Q9NQA8|Q9NQA9	Nonsense_Mutation	SNP	ENST00000344327.3	37	c.220G>T	CCDS8311.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.412184	0.83340	.	.	ENSG00000137672	ENST00000344327;ENST00000532133;ENST00000348423;ENST00000360497	.	.	.	5.6	5.6	0.85130	.	0.172780	0.50627	D	0.000107	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-22.088	19.6251	0.95674	0.0:1.0:0.0:0.0	.	.	.	.	X	74	.	ENSP00000340913:E74X	E	-	1	0	TRPC6	100880690	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.126000	0.71635	2.636000	0.89361	0.655000	0.94253	GAG		0.463	TRPC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394770.1	NM_004621		62	46	1	0	2.40041e-21	0.00361	4.21516e-21	62	46				
MMP12	4321	broad.mit.edu	37	11	102738758	102738758	+	RNA	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr11:102738758G>T	ENST00000532855.1	-	0	763							P39900	MMP12_HUMAN	matrix metallopeptidase 12 (macrophage elastase)						collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|proteolysis (GO:0006508)|wound healing, spreading of epidermal cells (GO:0035313)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.S223Y(1)		autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)|Marimastat(DB00786)	AAGACCTAAGGAATGGCCAAT	0.443																																							uc001phk.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(667-669)TCC>TAC		matrix metalloproteinase 12 preproprotein	Acetohydroxamic Acid(DB00551)						75.0	71.0	72.0					11																	102738758		1921	4127	6048			4321				positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr11:102738758G>T	L23808	CCDS73375.1	11q22.3	2009-02-26	2005-08-08			ENSG00000262406			7158	protein-coding gene	gene with protein product		601046	"""matrix metalloproteinase 12 (macrophage elastase)"""				Standard	NM_002426		Approved	HME	uc001phk.3	P39900			11.37:g.102738758G>T							p.S223Y	NM_002426	NP_002417	P39900	MMP12_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.014)	6	713	-		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	223					B2R9X8|B7ZLF6|Q2M1L9	Missense_Mutation	SNP	ENST00000532855.1	37	c.668C>A																																																																																					0.443	MMP12-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000386646.1	NM_002426		3	4	1	0	1.024e-07	0.000602	1.30165e-07	3	4				
MMP12	4321	broad.mit.edu	37	11	102745613	102745613	+	RNA	SNP	G	G	A	rs186922368		TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr11:102745613G>A	ENST00000532855.1	-	0	151							P39900	MMP12_HUMAN	matrix metallopeptidase 12 (macrophage elastase)						collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|proteolysis (GO:0006508)|wound healing, spreading of epidermal cells (GO:0035313)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.L19L(1)		autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)|Marimastat(DB00786)	GAGCTGTTCAGGGGAAGAGCT	0.383													G|||	1	0.000199681	0.0	0.0	5008	,	,		20570	0.001		0.0	False		,,,				2504	0.0						uc001phk.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(55-57)CTG>TTG		matrix metalloproteinase 12 preproprotein	Acetohydroxamic Acid(DB00551)						69.0	70.0	69.0					11																	102745613		1851	4077	5928			4321				positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr11:102745613G>A	L23808	CCDS73375.1	11q22.3	2009-02-26	2005-08-08			ENSG00000262406			7158	protein-coding gene	gene with protein product		601046	"""matrix metalloproteinase 12 (macrophage elastase)"""				Standard	NM_002426		Approved	HME	uc001phk.3	P39900			11.37:g.102745613G>A							p.L19L	NM_002426	NP_002417	P39900	MMP12_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.014)	1	100	-		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	19					B2R9X8|B7ZLF6|Q2M1L9	Silent	SNP	ENST00000532855.1	37	c.55C>T																																																																																					0.383	MMP12-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000386646.1	NM_002426		5	2	0	0	0	0.000602	0	5	2				
CWF19L2	143884	broad.mit.edu	37	11	107219763	107219763	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr11:107219763G>A	ENST00000282251.5	-	14	2129	c.2102C>T	c.(2101-2103)cCc>cTc	p.P701L	CWF19L2_ENST00000433523.1_Missense_Mutation_p.P701L	NM_152434.2	NP_689647.2	Q2TBE0	C19L2_HUMAN	CWF19-like 2, cell cycle control (S. pombe)	701							catalytic activity (GO:0003824)	p.P701L(1)|p.P547L(1)		endometrium(4)|kidney(2)|large_intestine(13)|lung(21)	40		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)		CCGTACGTTGGGTAAACATAA	0.363																																							uc010rvp.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(2101-2103)CCC>CTC		CWF19-like 2, cell cycle control							58.0	57.0	57.0					11																	107219763		2201	4298	6499	SO:0001583	missense	143884						catalytic activity	g.chr11:107219763G>A	AK056905	CCDS8336.2	11q23.1	2005-09-22			ENSG00000152404	ENSG00000152404			26508	protein-coding gene	gene with protein product						14702039	Standard	NM_152434		Approved	FLJ32343	uc010rvp.2	Q2TBE0	OTTHUMG00000152975	ENST00000282251.5:c.2102C>T	11.37:g.107219763G>A	ENSP00000282251:p.Pro701Leu					CWF19L2_uc001pjh.3_RNA|CWF19L2_uc009yxo.2_RNA	p.P701L	NM_152434	NP_689647	Q2TBE0	C19L2_HUMAN		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)	14	2132	-		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)	701					A4FU66|A4FU67|A4FU68|Q6PHW1|Q96MI1	Missense_Mutation	SNP	ENST00000282251.5	37	c.2102C>T	CCDS8336.2	.	.	.	.	.	.	.	.	.	.	G	21.4	4.144669	0.77888	.	.	ENSG00000152404	ENST00000282251;ENST00000433523	T;T	0.34667	2.26;1.35	5.86	5.86	0.93980	Histidine triad motif (1);Histidine triad-like motif (1);Cwf19-like, C-terminal domain-1 (1);	0.000000	0.85682	D	0.000000	T	0.71771	0.3379	M	0.94101	3.495	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.78765	-0.2076	10	0.87932	D	0	-7.0414	19.1901	0.93663	0.0:0.0:1.0:0.0	.	701	Q2TBE0	C19L2_HUMAN	L	701	ENSP00000282251:P701L;ENSP00000387533:P701L	ENSP00000282251:P701L	P	-	2	0	CWF19L2	106724973	1.000000	0.71417	1.000000	0.80357	0.457000	0.32468	9.720000	0.98763	2.776000	0.95493	0.655000	0.94253	CCC		0.363	CWF19L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328825.2	NM_152434		5	24	0	0	0	0.000602	0	5	24				
ARHGAP20	57569	broad.mit.edu	37	11	110450210	110450210	+	Silent	SNP	G	G	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr11:110450210G>A	ENST00000260283.4	-	16	3744	c.3460C>T	c.(3460-3462)Ctg>Ttg	p.L1154L	ARHGAP20_ENST00000529591.1_Silent_p.L697L|ARHGAP20_ENST00000528829.1_Silent_p.L1118L|ARHGAP20_ENST00000357139.3_Silent_p.L1128L|ARHGAP20_ENST00000527598.1_Silent_p.L1118L|ARHGAP20_ENST00000533353.1_Silent_p.L1128L|ARHGAP20_ENST00000524756.1_Silent_p.L1131L	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	1154					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)	p.L1154L(1)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		TCCCAAGGCAGAGAACCAGAA	0.527																																							uc001pkz.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)|kidney(2)	5						c.(3460-3462)CTG>TTG		Rho GTPase activating protein 20							103.0	99.0	100.0					11																	110450210		2201	4298	6499	SO:0001819	synonymous_variant	57569				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr11:110450210G>A	AB037812	CCDS31673.1, CCDS58175.1, CCDS58176.1, CCDS58177.1	11q23.2	2011-06-29			ENSG00000137727	ENSG00000137727		"""Rho GTPase activating proteins"""	18357	protein-coding gene	gene with protein product		609568				14532992	Standard	NM_020809		Approved	KIAA1391	uc001pkz.2	Q9P2F6	OTTHUMG00000166590	ENST00000260283.4:c.3460C>T	11.37:g.110450210G>A						ARHGAP20_uc001pky.1_Silent_p.L1131L|ARHGAP20_uc009yyb.1_Silent_p.L1118L|ARHGAP20_uc001pla.1_Silent_p.L1118L|ARHGAP20_uc001plb.2_Silent_p.L697L	p.L1154L	NM_020809	NP_065860	Q9P2F6	RHG20_HUMAN		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)	16	3745	-		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)	1154					A8K8C5|B0YIW7|B0YIW8|Q6RJU1|Q6RJU2|Q6RJU3|Q6RJU5|Q8IXS1	Silent	SNP	ENST00000260283.4	37	c.3460C>T	CCDS31673.1																																																																																				0.527	ARHGAP20-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390628.1	NM_020809		35	42	0	0	0	0.002445	0	35	42				
ANKK1	255239	broad.mit.edu	37	11	113267990	113267990	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr11:113267990C>A	ENST00000303941.3	+	6	977	c.883C>A	c.(883-885)Cgt>Agt	p.R295S		NM_178510.1	NP_848605.1	Q8NFD2	ANKK1_HUMAN	ankyrin repeat and kinase domain containing 1	295							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.R295S(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|stomach(1)	29		all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194)		BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238)		GCTGCAGAGTCGTGTGGCAGT	0.602																																							uc001pny.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(5)|stomach(1)|ovary(1)|breast(1)	8						c.(883-885)CGT>AGT		ankyrin repeat and kinase domain containing 1							62.0	68.0	66.0					11																	113267990		2158	4246	6404	SO:0001583	missense	255239						ATP binding|protein serine/threonine kinase activity	g.chr11:113267990C>A	AJ541797	CCDS44734.1	11q23.2	2013-01-10			ENSG00000170209	ENSG00000170209		"""Ankyrin repeat domain containing"""	21027	protein-coding gene	gene with protein product		608774				15146457	Standard	NM_178510		Approved	X-kinase	uc001pny.3	Q8NFD2	OTTHUMG00000167715	ENST00000303941.3:c.883C>A	11.37:g.113267990C>A	ENSP00000306678:p.Arg295Ser						p.R295S	NM_178510	NP_848605	Q8NFD2	ANKK1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238)	6	977	+		all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194)	295						Missense_Mutation	SNP	ENST00000303941.3	37	c.883C>A	CCDS44734.1	.	.	.	.	.	.	.	.	.	.	C	2.256	-0.370453	0.05069	.	.	ENSG00000170209	ENST00000303941	T	0.74315	-0.83	4.8	-0.784	0.10954	Protein kinase-like domain (1);	0.868455	0.09547	U	0.787433	T	0.46464	0.1394	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.27157	-1.0082	10	0.09338	T	0.73	-0.3698	5.156	0.15034	0.1416:0.3664:0.413:0.0789	.	295	Q8NFD2	ANKK1_HUMAN	S	295	ENSP00000306678:R295S	ENSP00000306678:R295S	R	+	1	0	ANKK1	112773200	0.000000	0.05858	0.000000	0.03702	0.092000	0.18411	-0.831000	0.04405	-0.315000	0.08703	0.561000	0.74099	CGT		0.602	ANKK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395830.1	NM_178510		10	11	1	0	6.40141e-05	0.000978	7.26916e-05	10	11				
CEP164	22897	broad.mit.edu	37	11	117209310	117209310	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr11:117209310G>C	ENST00000278935.3	+	3	155	c.8G>C	c.(7-9)gGa>gCa	p.G3A		NM_001271933.1|NM_014956.4	NP_001258862.1|NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	3	Interaction with ATRIP.				cilium assembly (GO:0042384)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)		p.G3A(1)		breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		GTCATGGCTGGACGACCCCTC	0.502																																							uc001prc.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(7-9)GGA>GCA		centrosomal protein 164kDa							131.0	127.0	128.0					11																	117209310		2201	4296	6497	SO:0001583	missense	22897				cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis	centriole|cytosol|nucleus		g.chr11:117209310G>C	AB028975	CCDS31683.1	11q23.3	2014-02-20			ENSG00000110274	ENSG00000110274			29182	protein-coding gene	gene with protein product		614848				10470851, 14654843	Standard	NM_014956		Approved	KIAA1052, NPHP15	uc001prc.3	Q9UPV0	OTTHUMG00000167070	ENST00000278935.3:c.8G>C	11.37:g.117209310G>C	ENSP00000278935:p.Gly3Ala					CEP164_uc001prb.2_Missense_Mutation_p.G3A|CEP164_uc001prd.2_Missense_Mutation_p.G3A|CEP164_uc010rxj.1_Intron|CEP164_uc010rxk.1_Missense_Mutation_p.G3A	p.G3A	NM_014956	NP_055771	Q9UPV0	CE164_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)	3	155	+	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	3			Interaction with ATRIP.		Q6PKH9|Q7Z2X9|Q9NVS0|Q9UFJ6	Missense_Mutation	SNP	ENST00000278935.3	37	c.8G>C	CCDS31683.1	.	.	.	.	.	.	.	.	.	.	G	11.05	1.523655	0.27299	.	.	ENSG00000110274	ENST00000525734;ENST00000278935;ENST00000527609;ENST00000533570;ENST00000529538	T;T;T;T	0.64260	-0.09;-0.09;-0.09;-0.09	4.94	4.02	0.46733	.	0.322211	0.22540	N	0.058728	T	0.67571	0.2907	L	0.36672	1.1	0.24537	N	0.994082	B;D;B	0.71674	0.053;0.998;0.087	B;D;B	0.68353	0.048;0.957;0.084	T	0.59182	-0.7502	10	0.29301	T	0.29	-3.1766	12.9713	0.58513	0.0:0.3113:0.6887:0.0	.	3;3;3	E9PI34;Q9UPV0;Q9UPV0-2	.;CE164_HUMAN;.	A	3	ENSP00000436609:G3A;ENSP00000278935:G3A;ENSP00000436351:G3A;ENSP00000431302:G3A	ENSP00000278935:G3A	G	+	2	0	CEP164	116714520	0.965000	0.33210	0.728000	0.30774	0.092000	0.18411	2.484000	0.45242	1.283000	0.44513	-0.176000	0.13171	GGA		0.502	CEP164-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392893.1	NM_014956		17	51	0	0	0	0.00499	0	17	51				
PHLDB1	23187	broad.mit.edu	37	11	118498933	118498933	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr11:118498933C>T	ENST00000361417.2	+	7	1805	c.1394C>T	c.(1393-1395)tCc>tTc	p.S465F	PHLDB1_ENST00000356063.5_Missense_Mutation_p.S465F	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	465								p.S465F(1)		breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		CCATCTCTGTCCCGGCGAGCT	0.677																																							uc001ptr.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1393-1395)TCC>TTC		pleckstrin homology-like domain, family B,							65.0	79.0	74.0					11																	118498933		2200	4295	6495	SO:0001583	missense	23187							g.chr11:118498933C>T		CCDS8401.1, CCDS44750.1	11q23.3	2013-01-10			ENSG00000019144	ENSG00000019144		"""Pleckstrin homology (PH) domain containing"""	23697	protein-coding gene	gene with protein product		612834				14532993	Standard	NM_015157		Approved	FLJ00141, LL5a, KIAA0638	uc001pts.3	Q86UU1	OTTHUMG00000166341	ENST00000361417.2:c.1394C>T	11.37:g.118498933C>T	ENSP00000354498:p.Ser465Phe					PHLDB1_uc001pts.2_Missense_Mutation_p.S465F|PHLDB1_uc001ptt.2_Missense_Mutation_p.S465F|PHLDB1_uc001ptu.1_Intron|PHLDB1_uc001ptv.1_Missense_Mutation_p.S265F|PHLDB1_uc001ptw.1_5'Flank	p.S465F	NM_015157	NP_055972	Q86UU1	PHLB1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)	7	1747	+	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)	465					B0YJ63|B0YJ64|O75133|Q4KMF8|Q8TEQ2	Missense_Mutation	SNP	ENST00000361417.2	37	c.1394C>T	CCDS8401.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.481621	0.84747	.	.	ENSG00000019144	ENST00000361417;ENST00000361465;ENST00000356063	T;T	0.34667	1.35;1.35	5.18	5.18	0.71444	.	0.241030	0.43110	D	0.000610	T	0.51822	0.1697	L	0.40543	1.245	0.80722	D	1	D;D;D	0.71674	0.998;0.987;0.995	D;P;P	0.65443	0.935;0.838;0.88	T	0.53092	-0.8487	10	0.62326	D	0.03	-23.9034	18.6798	0.91543	0.0:1.0:0.0:0.0	.	465;465;465	Q86UU1-3;Q86UU1-2;Q86UU1	.;.;PHLB1_HUMAN	F	465;224;465	ENSP00000354498:S465F;ENSP00000348359:S465F	ENSP00000348359:S465F	S	+	2	0	PHLDB1	118004143	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	5.541000	0.67212	2.426000	0.82243	0.561000	0.74099	TCC		0.677	PHLDB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389279.1	NM_015157		6	96	0	0	0	0.001168	0	6	96				
VSIG2	23584	broad.mit.edu	37	11	124618406	124618406	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr11:124618406C>T	ENST00000326621.5	-	6	831	c.731G>A	c.(730-732)gGa>gAa	p.G244E	RP11-677M14.2_ENST00000531241.1_RNA|VSIG2_ENST00000403470.1_Missense_Mutation_p.G244E	NM_014312.3	NP_055127.2	Q96IQ7	VSIG2_HUMAN	V-set and immunoglobulin domain containing 2	244						integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)		p.G244E(1)		central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(5)	19	all_hematologic(175;0.215)	Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0215)		AATCAGAGCTCCGGCCACTCG	0.592																																							uc001qas.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(1)	4						c.(730-732)GGA>GAA		V-set and immunoglobulin domain containing 2							64.0	63.0	64.0					11																	124618406		2201	4299	6500	SO:0001583	missense	23584					integral to plasma membrane|membrane fraction		g.chr11:124618406C>T	AF061022	CCDS8452.1	11q24	2013-01-11			ENSG00000019102	ENSG00000019102		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	17149	protein-coding gene	gene with protein product		606011				9862345	Standard	NM_014312		Approved	CTXL, CTH	uc001qas.3	Q96IQ7	OTTHUMG00000150357	ENST00000326621.5:c.731G>A	11.37:g.124618406C>T	ENSP00000318684:p.Gly244Glu					VSIG2_uc001qat.2_Missense_Mutation_p.G244E	p.G244E	NM_014312	NP_055127	Q96IQ7	VSIG2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0215)	6	807	-	all_hematologic(175;0.215)	Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	244			Helical; (Potential).		O95791|Q9NX42	Missense_Mutation	SNP	ENST00000326621.5	37	c.731G>A	CCDS8452.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.387504	0.82902	.	.	ENSG00000019102	ENST00000326621;ENST00000403470	T;T	0.78816	-1.21;-1.18	5.65	5.65	0.86999	.	0.000000	0.64402	D	0.000001	D	0.89273	0.6668	M	0.87097	2.86	0.45490	D	0.998453	D	0.89917	1.0	D	0.91635	0.999	D	0.90234	0.4281	10	0.87932	D	0	.	15.093	0.72211	0.0:1.0:0.0:0.0	.	244	Q96IQ7	VSIG2_HUMAN	E	244	ENSP00000318684:G244E;ENSP00000385013:G244E	ENSP00000318684:G244E	G	-	2	0	VSIG2	124123616	0.829000	0.29322	0.939000	0.37840	0.835000	0.47333	3.715000	0.54897	2.941000	0.99782	0.655000	0.94253	GGA		0.592	VSIG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317785.1	NM_014312		18	18	0	0	0	0.006122	0	18	18				
HEPN1	641654	broad.mit.edu	37	11	124789651	124789651	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr11:124789651G>A	ENST00000408930.5	+	1	506	c.5G>A	c.(4-6)gGt>gAt	p.G2D	HEPACAM_ENST00000298251.4_3'UTR	NM_001037558.2	NP_001032647.2	Q6WQI6	HEPN1_HUMAN	hepatocellular carcinoma, down-regulated 1	2						cytoplasm (GO:0005737)		p.G2D(1)		large_intestine(1)|lung(1)|stomach(1)	3	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0287)		GAGGTGATGGGTAACTGGGGC	0.542																																							uc001qbj.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(4-6)GGT>GAT		HEPACAM opposite strand 1							116.0	122.0	120.0					11																	124789651		2039	4195	6234	SO:0001583	missense	641654					cytoplasm		g.chr11:124789651G>A	BC148521	CCDS41729.1	11q24	2013-07-02	2011-02-11		ENSG00000221932	ENSG00000221932			34400	protein-coding gene	gene with protein product	"""cancer susceptibility gene HEPN1"""	611641	"""HEPACAM opposite strand 1"""			12971969, 23548416	Standard	NM_001037558		Approved		uc001qbj.1	Q6WQI6	OTTHUMG00000165939	ENST00000408930.5:c.5G>A	11.37:g.124789651G>A	ENSP00000386143:p.Gly2Asp					HEPACAM_uc009zbj.2_3'UTR|HEPACAM_uc001qbk.2_3'UTR	p.G2D	NM_001037558	NP_001032647	Q6WQI6	HEPN1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0287)	1	506	+	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)	2						Missense_Mutation	SNP	ENST00000408930.5	37	c.5G>A	CCDS41729.1	.	.	.	.	.	.	.	.	.	.	G	6.150	0.395913	0.11638	.	.	ENSG00000221932	ENST00000408930	T	0.59502	0.26	4.05	-0.402	0.12404	.	.	.	.	.	T	0.43986	0.1272	.	.	.	0.09310	N	1	B	0.17465	0.022	B	0.17979	0.02	T	0.38436	-0.9661	8	0.87932	D	0	.	6.7418	0.23441	0.5051:0.0:0.4949:0.0	.	2	Q6WQI6	HEPN1_HUMAN	D	2	ENSP00000386143:G2D	ENSP00000386143:G2D	G	+	2	0	HEPN1	124294861	0.001000	0.12720	0.003000	0.11579	0.011000	0.07611	-0.025000	0.12413	-0.327000	0.08551	0.467000	0.42956	GGT		0.542	HEPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387129.1	NM_001037558		19	20	0	0	0	0.010504	0	19	20				
DYRK4	8798	broad.mit.edu	37	12	4700362	4700362	+	Missense_Mutation	SNP	C	C	A	rs111557443		TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr12:4700362C>A	ENST00000540757.2	+	3	176	c.16C>A	c.(16-18)Ctc>Atc	p.L6I	DYRK4_ENST00000543431.1_Missense_Mutation_p.L6I|DYRK4_ENST00000010132.5_Missense_Mutation_p.L6I	NM_001282285.1|NM_001282286.1|NM_003845.1	NP_001269214.1|NP_001269215.1|NP_003836.1	Q9NR20	DYRK4_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4	6						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)	p.L408I(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27			Colorectal(7;0.103)			GGCCTCAGAGCTCAAGGCTTC	0.483																																							uc001qmx.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(2)|skin(1)	3						c.(16-18)CTC>ATC		dual-specificity tyrosine-(Y)-phosphorylation							84.0	77.0	79.0					12																	4700362		2203	4300	6503	SO:0001583	missense	8798					Golgi apparatus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr12:4700362C>A	Y09305	CCDS8530.1	12p13.32	2014-09-11			ENSG00000010219	ENSG00000010219			3095	protein-coding gene	gene with protein product		609181				9748265	Standard	NM_003845		Approved		uc001qmx.3	Q9NR20	OTTHUMG00000168204	ENST00000540757.2:c.16C>A	12.37:g.4700362C>A	ENSP00000441755:p.Leu6Ile					DYRK4_uc009zeh.1_Missense_Mutation_p.L121I|DYRK4_uc001qmy.1_Missense_Mutation_p.L6I	p.L6I	NM_003845	NP_003836	Q9NR20	DYRK4_HUMAN	Colorectal(7;0.103)		3	176	+			6					A8K8F7|Q8NEF2|Q92631	Missense_Mutation	SNP	ENST00000540757.2	37	c.16C>A	CCDS8530.1	.	.	.	.	.	.	.	.	.	.	C	13.73	2.324660	0.41197	.	.	ENSG00000010219	ENST00000542744;ENST00000540757;ENST00000010132;ENST00000543431	T;T;T;T	0.63580	-0.04;-0.05;-0.05;-0.04	4.34	3.45	0.39498	.	1.651380	0.03563	N	0.227365	T	0.54303	0.1850	L	0.36672	1.1	0.43545	D	0.995842	B;B;B	0.23442	0.004;0.004;0.085	B;B;B	0.19666	0.01;0.005;0.026	T	0.24512	-1.0158	10	0.28530	T	0.3	.	8.8184	0.35009	0.0:0.8906:0.0:0.1094	.	121;6;6	F5H6L9;Q9NR20-2;Q9NR20	.;.;DYRK4_HUMAN	I	121;6;6;6	ENSP00000437534:L121I;ENSP00000441755:L6I;ENSP00000010132:L6I;ENSP00000439697:L6I	ENSP00000010132:L6I	L	+	1	0	DYRK4	4570623	0.001000	0.12720	0.303000	0.25071	0.535000	0.34838	-0.293000	0.08320	1.139000	0.42245	0.505000	0.49811	CTC		0.483	DYRK4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398780.2			23	17	1	0	7.33532e-06	0.003954	8.68679e-06	23	17				
DDX12P	440081	broad.mit.edu	37	12	9580280	9580280	+	IGR	SNP	A	A	G	rs201256560	byFrequency	TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr12:9580280A>G								RP13-735L24.1 (30067 upstream) : SNORA75 (17373 downstream)																							AGTCGTTGATAGTCTTCAGCT	0.493																																							uc010sgs.1		NA																	0					0						c.(1429-1431)ACT>ACC		DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 12							244.0	231.0	235.0					12																	9580280		689	1590	2279	SO:0001628	intergenic_variant	440081							g.chr12:9580280A>G																													12.37:g.9580280A>G							p.T477T	NM_004400	NP_004391					14	1626	-									Silent	SNP		37	c.1431T>C																																																																																				0	0.493									5	39	0	0	0	0.004482	0	5	39				
ETV6	2120	broad.mit.edu	37	12	12037475	12037475	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr12:12037475G>T	ENST00000396373.4	+	6	1380	c.1106G>T	c.(1105-1107)cGg>cTg	p.R369L		NM_001987.4	NP_001978.1	P41212	ETV6_HUMAN	ets variant 6	369					cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	protein domain specific binding (GO:0019904)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R369L(1)	ETV6/JAK2(11)|ETV6/ITPR2(2)|ETV6/NTRK3(238)	breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(15)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)				AAAATATTCCGGATAGTGGAT	0.458			T	"""NTRK3, RUNX1, PDGFRB, ABL1, MN1, ABL2, FACL6, CHIC2, ARNT, JAK2, EVI1, CDX2, STL, HLXB9, MDS2, PER1, SYK, TTL, FGFR3, PAX5"""	"""congenital fibrosarcoma, multiple leukemia and lymphoma,  secretory breast, MDS, ALL"""																																		uc001qzz.2		NA		Dom	yes		12	12p13	2120	T	ets variant gene 6 (TEL oncogene)			"""L, E, M"""	NTRK3|RUNX1|PDGFRB|ABL1|MN1|ABL2|FACL6|CHIC2|ARNT|JAK2|EVI1|CDX2|STL|HLXB9|MDS2|PER1|SYK|TTL|FGFR3|PAX5		congenital fibrosarcoma|multiple leukemia and lymphoma| secretory breast|MDS|ALL	ETV6/NTRK3(234)|ETV6/JAK2(11)	1	Substitution - Missense(1)		lung(1)	soft_tissue(85)|kidney(66)|breast(55)|salivary_gland(26)|haematopoietic_and_lymphoid_tissue(13)|ovary(2)|upper_aerodigestive_tract(1)|skin(1)|pancreas(1)	250						c.(1105-1107)CGG>CTG		ets variant 6							117.0	108.0	111.0					12																	12037475		2203	4300	6503	SO:0001583	missense	2120					cytoplasm|nucleolus	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:12037475G>T	BC043399	CCDS8643.1	12p13	2014-09-17	2008-09-12		ENSG00000139083	ENSG00000139083			3495	protein-coding gene	gene with protein product	"""TEL oncogene"""	600618	"""ets variant gene 6 (TEL oncogene)"""			7731705	Standard	NM_001987		Approved	TEL	uc001qzz.3	P41212	OTTHUMG00000168538	ENST00000396373.4:c.1106G>T	12.37:g.12037475G>T	ENSP00000379658:p.Arg369Leu					ETV6_uc001raa.1_Intron	p.R369L	NM_001987	NP_001978	P41212	ETV6_HUMAN			6	1380	+		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)	369			ETS.		A3QVP6|A8K076|Q9UMF6|Q9UMF7|Q9UMG0	Missense_Mutation	SNP	ENST00000396373.4	37	c.1106G>T	CCDS8643.1	.	.	.	.	.	.	.	.	.	.	G	34	5.387890	0.95988	.	.	ENSG00000139083	ENST00000396373	T	0.16196	2.36	5.63	5.63	0.86233	Winged helix-turn-helix transcription repressor DNA-binding (1);Ets (4);	0.000000	0.85682	D	0.000000	T	0.45776	0.1359	M	0.73962	2.25	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.40553	-0.9557	10	0.87932	D	0	.	19.2738	0.94021	0.0:0.0:1.0:0.0	.	369	P41212	ETV6_HUMAN	L	369	ENSP00000379658:R369L	ENSP00000379658:R369L	R	+	2	0	ETV6	11928742	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.636000	0.89361	0.655000	0.94253	CGG		0.458	ETV6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400130.2	NM_001987		74	36	1	0	9.07738e-34	0.00361	1.70849e-33	74	36				
MGST1	4257	broad.mit.edu	37	12	16510579	16510579	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr12:16510579G>T	ENST00000396209.1	+	3	310	c.167G>T	c.(166-168)gGa>gTa	p.G56V	MGST1_ENST00000396210.3_Missense_Mutation_p.G56V|MGST1_ENST00000540056.1_Intron|MGST1_ENST00000010404.2_Missense_Mutation_p.G56V|MGST1_ENST00000396207.1_Missense_Mutation_p.G56V|MGST1_ENST00000535309.1_Missense_Mutation_p.G56V	NM_145791.2	NP_665734.1	P10620	MGST1_HUMAN	microsomal glutathione S-transferase 1	56					cellular response to lipid hydroperoxide (GO:0071449)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|Leydig cell differentiation (GO:0033327)|oxidation-reduction process (GO:0055114)|protein homotrimerization (GO:0070207)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to organonitrogen compound (GO:0010243)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	apical part of cell (GO:0045177)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	glutathione binding (GO:0043295)|glutathione peroxidase activity (GO:0004602)|glutathione transferase activity (GO:0004364)	p.G56V(1)		endometrium(2)|large_intestine(2)|lung(4)|ovary(1)	9		Hepatocellular(102;0.121)			Glutathione(DB00143)	TTTGGCAAAGGAGAAAATGCC	0.373																																							uc001rdf.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(166-168)GGA>GTA		microsomal glutathione S-transferase 1	Glutathione(DB00143)						98.0	95.0	96.0					12																	16510579		2203	4300	6503	SO:0001583	missense	4257				protein homotrimerization|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane	glutathione transferase activity	g.chr12:16510579G>T	U46494	CCDS8677.1, CCDS58209.1	12p12.3-p12.1	2012-06-21			ENSG00000008394	ENSG00000008394	2.5.1.18	"""Glutathione S-transferases / Microsomal"""	7061	protein-coding gene	gene with protein product		138330		GST12			Standard	NM_145792		Approved	MGST-I	uc031qgl.1	P10620	OTTHUMG00000168816	ENST00000396209.1:c.167G>T	12.37:g.16510579G>T	ENSP00000379512:p.Gly56Val					MGST1_uc001rdg.2_Missense_Mutation_p.G56V|MGST1_uc009zih.1_RNA|MGST1_uc001rdh.2_Missense_Mutation_p.G56V|MGST1_uc001rdi.2_Missense_Mutation_p.G56V	p.G56V	NM_145792	NP_665735	P10620	MGST1_HUMAN			3	232	+		Hepatocellular(102;0.121)	56			Cytoplasmic (By similarity).		A8K533|G5EA53	Missense_Mutation	SNP	ENST00000396209.1	37	c.167G>T	CCDS8677.1	.	.	.	.	.	.	.	.	.	.	G	14.94	2.685343	0.47991	.	.	ENSG00000008394	ENST00000536371;ENST00000010404;ENST00000543076;ENST00000396210;ENST00000535309;ENST00000396209;ENST00000540126;ENST00000396207	.	.	.	5.22	4.29	0.51040	Membrane associated eicosanoid/glutathione metabolism-like domain (1);	0.194587	0.44688	D	0.000436	T	0.54062	0.1835	M	0.65975	2.015	0.80722	D	1	P	0.35383	0.498	B	0.32677	0.15	T	0.57266	-0.7841	9	0.37606	T	0.19	-16.5354	14.4123	0.67121	0.0:0.1461:0.8539:0.0	.	56	P10620	MGST1_HUMAN	V	56;56;20;56;56;56;56;56	.	ENSP00000010404:G56V	G	+	2	0	MGST1	16401846	0.997000	0.39634	1.000000	0.80357	0.983000	0.72400	2.610000	0.46325	2.715000	0.92844	0.655000	0.94253	GGA		0.373	MGST1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401189.1	NM_145791		16	32	1	0	5.35267e-07	0.007413	6.62279e-07	16	32				
ARID2	196528	broad.mit.edu	37	12	46233111	46233111	+	Splice_Site	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr12:46233111G>T	ENST00000334344.6	+	11	1502		c.e11-1		ARID2_ENST00000422737.1_Splice_Site|ARID2_ENST00000444670.1_Intron|ARID2_ENST00000479608.1_Splice_Site	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)						chromatin modification (GO:0016568)|nucleosome disassembly (GO:0006337)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.?(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		ATTTATTTTAGACATGTTAGT	0.333			"""N, S, F"""		hepatocellular carcinoma																																		uc001ros.1		NA		Rec	yes		12	12q12	196528		AT rich interactive domain 2			E					1	Unknown(1)		lung(1)	ovary(6)|skin(3)|upper_aerodigestive_tract(1)	10						c.e11-1		AT rich interactive domain 2 (ARID, RFX-like)							61.0	60.0	60.0					12																	46233111		2203	4300	6503	SO:0001630	splice_region_variant	196528				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr12:46233111G>T		CCDS31783.1	12q13.11	2013-02-07			ENSG00000189079	ENSG00000189079		"""-"""	18037	protein-coding gene	gene with protein product		609539					Standard	NM_152641		Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	Q68CP9	OTTHUMG00000150487	ENST00000334344.6:c.1331-1G>T	12.37:g.46233111G>T						ARID2_uc001ror.2_Splice_Site_p.D444_splice|ARID2_uc009zkg.1_Splice_Site|ARID2_uc009zkh.1_Intron|ARID2_uc001rot.1_Splice_Site_p.D90_splice	p.D444_splice	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)	11	1331	+	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)						Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Splice_Site	SNP	ENST00000334344.6	37	c.1331_splice	CCDS31783.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.983718	0.74474	.	.	ENSG00000189079	ENST00000334344;ENST00000422737	.	.	.	5.19	5.19	0.71726	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.8443	0.88725	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ARID2	44519378	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	8.192000	0.89718	2.584000	0.87258	0.655000	0.94253	.		0.333	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318380.2	XM_350875	Intron	14	46	1	0	1.05317e-09	0.00245	1.43896e-09	14	46				
SLC38A1	81539	broad.mit.edu	37	12	46592512	46592513	+	Missense_Mutation	DNP	CG	CG	AA	rs138242331	byFrequency	TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	CG	CG	-	-	CG	CG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr12:46592512_46592513CG>AA	ENST00000398637.5	-	14	1711_1712	c.1017_1018CG>TT	c.(1015-1020)tcCGac>tcTTac	p.D340Y	SLC38A1_ENST00000546893.1_Missense_Mutation_p.D340Y|SLC38A1_ENST00000549049.1_Missense_Mutation_p.D340Y|SLC38A1_ENST00000549633.1_5'UTR|SLC38A1_ENST00000552197.1_Missense_Mutation_p.D340Y|SLC38A1_ENST00000439706.1_Missense_Mutation_p.D340Y	NM_001077484.1|NM_001278387.1|NM_001278388.1|NM_001278389.1|NM_030674.3	NP_001070952.1|NP_001265316.1|NP_001265317.1|NP_001265318.1|NP_109599.3	Q9H2H9	S38A1_HUMAN	solute carrier family 38, member 1	340					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|ion transport (GO:0006811)|neurotransmitter uptake (GO:0001504)|neutral amino acid transport (GO:0015804)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neutral amino acid transmembrane transporter activity (GO:0015175)|sodium:amino acid symporter activity (GO:0005283)	p.D340Y(1)		NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2)	23	Lung SC(27;0.137)|Renal(347;0.236)		all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)			TGAAGGAGGTCGGACTGCACGT	0.406																																							uc001rpa.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)|central_nervous_system(1)	5						c.(1015-1020)TCCGAC>TCTTAC		amino acid transporter system A1																																				SO:0001583	missense	81539				cellular nitrogen compound metabolic process|neurotransmitter uptake	integral to membrane|plasma membrane	sodium:amino acid symporter activity	g.chr12:46592512_46592513CG>AA	AF271070	CCDS41774.1, CCDS61106.1	12q13.11	2013-05-22				ENSG00000111371		"""Solute carriers"""	13447	protein-coding gene	gene with protein product		608490				10891391	Standard	NM_030674		Approved	ATA1, NAT2, SAT1	uc001rpc.3	Q9H2H9		ENST00000398637.5:c.1017_1018delinsAA	12.37:g.46592512_46592513delinsAA	ENSP00000381634:p.Asp340Tyr					SLC38A1_uc001rpb.2_Missense_Mutation_p.D340Y|SLC38A1_uc001rpc.2_Missense_Mutation_p.D340Y|SLC38A1_uc001rpd.2_Missense_Mutation_p.D340Y|SLC38A1_uc001rpe.2_Missense_Mutation_p.D340Y|SLC38A1_uc009zkj.1_Missense_Mutation_p.D340Y	p.D340Y	NM_030674	NP_109599	Q9H2H9	S38A1_HUMAN	all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)		14	1275_1276	-	Lung SC(27;0.137)|Renal(347;0.236)		340			Extracellular (Potential).		Q8NC61|Q8NCF8|Q96JX2|Q9H2Q2	Missense_Mutation	DNP	ENST00000398637.5	37	c.1017_1018CG>TT	CCDS41774.1																																																																																				0.406	SLC38A1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404218.2			37	57	0	0	0	0.004672	0	37	57				
KMT2D	8085	broad.mit.edu	37	12	49444341	49444341	+	Silent	SNP	C	C	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr12:49444341C>T	ENST00000301067.7	-	11	3029	c.3030G>A	c.(3028-3030)ggG>ggA	p.G1010G		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	1010	Pro-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.G1010G(1)|p.G737G(1)									GAGAAGCCGGCCCCACTGGGG	0.612																																							uc001rta.3		NA								N|F|Mis							medulloblastoma|renal		2	Substitution - coding silent(2)		lung(2)	kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						c.(3028-3030)GGG>GGA		myeloid/lymphoid or mixed-lineage leukemia 2							51.0	60.0	57.0					12																	49444341		1984	4160	6144	SO:0001819	synonymous_variant	8085				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:49444341C>T	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.3030G>A	12.37:g.49444341C>T		HNSCC(34;0.089)					p.G1010G	NM_003482	NP_003473	O14686	MLL2_HUMAN			11	3030	-			1010			Pro-rich.		O14687	Silent	SNP	ENST00000301067.7	37	c.3030G>A	CCDS44873.1																																																																																				0.612	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			33	36	0	0	0	0.006999	0	33	36				
CELA1	1990	broad.mit.edu	37	12	51737560	51737560	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr12:51737560C>A	ENST00000293636.1	-	3	217	c.177G>T	c.(175-177)atG>atT	p.M59I		NM_001971.5	NP_001962.3	Q9UNI1	CELA1_HUMAN	chymotrypsin-like elastase family, member 1	59	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.		M -> V (in dbSNP:rs17860300).		exocrine pancreas development (GO:0031017)|inflammatory response (GO:0006954)|multicellular organism growth (GO:0035264)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|pancreas morphogenesis (GO:0061113)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|regulation of cell differentiation (GO:0045595)|regulation of cell proliferation (GO:0042127)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)	p.M59I(1)		NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	15						GAGCAGCTGTCATCACCCAGT	0.498																																							uc001ryi.1		NA																	1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(175-177)ATG>ATT		chymotrypsin-like elastase family, member 1							60.0	51.0	54.0					12																	51737560		2203	4300	6503	SO:0001583	missense	1990				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity	g.chr12:51737560C>A		CCDS8812.1	12q13	2012-10-02	2009-05-05	2009-05-05	ENSG00000139610	ENSG00000139610			3308	protein-coding gene	gene with protein product		130120	"""elastase 1, pancreatic"""	ELA1			Standard	NM_001971		Approved		uc001ryi.1	Q9UNI1	OTTHUMG00000167523	ENST00000293636.1:c.177G>T	12.37:g.51737560C>A	ENSP00000293636:p.Met59Ile						p.M59I	NM_001971	NP_001962	Q9UNI1	CELA1_HUMAN			3	218	-			59			Peptidase S1.		Q5MLF0|Q6DJT0|Q6ISM6	Missense_Mutation	SNP	ENST00000293636.1	37	c.177G>T	CCDS8812.1	.	.	.	.	.	.	.	.	.	.	C	18.50	3.638006	0.67130	.	.	ENSG00000139610	ENST00000293636	D	0.92199	-2.99	5.03	4.08	0.47627	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.246105	0.43260	D	0.000592	D	0.82518	0.5054	N	0.01188	-0.97	0.49798	D	0.999823	B	0.24092	0.097	B	0.37387	0.248	T	0.81879	-0.0730	10	0.62326	D	0.03	-12.8783	14.1625	0.65454	0.0:0.8488:0.1512:0.0	.	59	Q9UNI1	CELA1_HUMAN	I	59	ENSP00000293636:M59I	ENSP00000293636:M59I	M	-	3	0	CELA1	50023827	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.464000	0.66719	2.524000	0.85096	0.643000	0.83706	ATG		0.498	CELA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394901.1	NM_001971		6	22	1	0	2.7689e-08	0.001984	3.58658e-08	6	22				
KRT75	9119	broad.mit.edu	37	12	52818493	52818493	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr12:52818493G>T	ENST00000252245.5	-	9	1684	c.1464C>A	c.(1462-1464)agC>agA	p.S488R	RP11-1020M18.10_ENST00000548135.1_RNA	NM_004693.2	NP_004684.2	O95678	K2C75_HUMAN	keratin 75	488	Tail.				hematopoietic progenitor cell differentiation (GO:0002244)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)	p.S488R(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28				BRCA - Breast invasive adenocarcinoma(357;0.192)		CACCTCCAATGCTGCTGCCGC	0.602																																							uc001saj.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1462-1464)AGC>AGA		keratin 75							56.0	60.0	59.0					12																	52818493		2203	4300	6503	SO:0001583	missense	9119					keratin filament	structural molecule activity	g.chr12:52818493G>T	Y19212	CCDS8827.1	12q13.13	2013-06-25			ENSG00000170454	ENSG00000170454		"""-"", ""Intermediate filaments type II, keratins (basic)"""	24431	protein-coding gene	gene with protein product		609025				9856802, 10692104, 16831889	Standard	NM_004693		Approved	K6HF	uc001saj.2	O95678	OTTHUMG00000169592	ENST00000252245.5:c.1464C>A	12.37:g.52818493G>T	ENSP00000252245:p.Ser488Arg						p.S488R	NM_004693	NP_004684	O95678	K2C75_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.192)	9	1486	-			488			Tail.		B4DQU4|Q9NSA9	Missense_Mutation	SNP	ENST00000252245.5	37	c.1464C>A	CCDS8827.1	.	.	.	.	.	.	.	.	.	.	G	4.506	0.093840	0.08632	.	.	ENSG00000170454	ENST00000252245	T	0.78246	-1.16	4.78	0.581	0.17407	.	1.314800	0.05155	N	0.496722	T	0.64616	0.2614	L	0.40543	1.245	0.09310	N	1	B	0.34015	0.435	B	0.24269	0.052	T	0.48186	-0.9057	10	0.23891	T	0.37	.	6.3258	0.21242	0.4469:0.0:0.5531:0.0	.	488	O95678	K2C75_HUMAN	R	488	ENSP00000252245:S488R	ENSP00000252245:S488R	S	-	3	2	KRT75	51104760	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	0.230000	0.17852	0.233000	0.21120	0.591000	0.81541	AGC		0.602	KRT75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404968.1	NM_004693		51	39	1	0	4.78724e-31	0.00361	8.92803e-31	51	39				
KRT6B	3854	broad.mit.edu	37	12	52843562	52843563	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr12:52843562_52843563GG>TT	ENST00000252252.3	-	4	938_939	c.891_892CC>AA	c.(889-894)ttCCtg>ttAAtg	p.297_298FL>LM		NM_005555.3	NP_005546.2	P04259	K2C6B_HUMAN	keratin 6B	297	Coil 1B.|Rod.				ectoderm development (GO:0007398)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural constituent of cytoskeleton (GO:0005200)	p.F297_L298>LM(1)		NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2)	40				BRCA - Breast invasive adenocarcinoma(357;0.083)		AAGGCTCTCAGGAAGTTGATCT	0.5																																							uc001sak.2		NA																	1	Complex - compound substitution(1)		lung(1)	ovary(2)	2						c.(889-894)TTCCTG>TTAATG		keratin 6B																																				SO:0001583	missense	3854				ectoderm development	keratin filament	structural constituent of cytoskeleton	g.chr12:52843562_52843563GG>TT	BC034535	CCDS8828.1	12q13.13	2013-01-16	2004-08-11		ENSG00000185479	ENSG00000185479		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6444	protein-coding gene	gene with protein product		148042	"""keratin-like 1 (a type II keratin sequence)"""	KRTL1		1713141, 16831889	Standard	NM_005555		Approved		uc001sak.3	P04259	OTTHUMG00000169593	ENST00000252252.3:c.891_892delinsTT	12.37:g.52843562_52843563delinsTT	ENSP00000252252:p.F297_L298delinsLM						p.297_298FL>LM	NM_005555	NP_005546	P04259	K2C6B_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.083)	4	939_940	-			297_298			Coil 1B.|Rod.		P48669	Missense_Mutation	DNP	ENST00000252252.3	37	c.891_892CC>AA	CCDS8828.1																																																																																				0.500	KRT6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404969.1	NM_005555		43	94	0	0	0	0.004672	0	43	94				
KRT5	3852	broad.mit.edu	37	12	52913777	52913777	+	Missense_Mutation	SNP	C	C	T	rs539432563		TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr12:52913777C>T	ENST00000252242.4	-	1	694	c.304G>A	c.(304-306)Ggt>Agt	p.G102S		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	102	Gly-rich.|Head.				cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|hemidesmosome assembly (GO:0031581)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)	p.G102S(1)		endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		aatccactaccggcaccacct	0.622																																							uc001san.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(304-306)GGT>AGT		keratin 5							106.0	117.0	113.0					12																	52913777		2203	4300	6503	SO:0001583	missense	3852				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton	g.chr12:52913777C>T		CCDS8830.1	12q13.13	2013-01-16	2008-08-01		ENSG00000186081	ENSG00000186081		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6442	protein-coding gene	gene with protein product		148040	"""epidermolysis bullosa simplex 2 Dowling-Meara/Kobner/Weber-Cockayne types"", ""keratin 5 (epidermolysis bullosa simplex, Dowling-Meara/Kobner/Weber-Cockayne types)"""	EBS2		1713141, 16831889	Standard	NM_000424		Approved	KRT5A	uc001san.3	P13647	OTTHUMG00000169657	ENST00000252242.4:c.304G>A	12.37:g.52913777C>T	ENSP00000252242:p.Gly102Ser					KRT5_uc009zmh.2_Missense_Mutation_p.G102S	p.G102S	NM_000424	NP_000415	P13647	K2C5_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	1	467	-			102			Head.|Gly-rich.		Q6PI71|Q6UBJ0|Q8TA91	Missense_Mutation	SNP	ENST00000252242.4	37	c.304G>A	CCDS8830.1	.	.	.	.	.	.	.	.	.	.	C	10.18	1.278310	0.23307	.	.	ENSG00000186081	ENST00000252242;ENST00000456000;ENST00000551275;ENST00000546577	D;D;T	0.98732	-5.1;-4.6;2.19	5.92	4.05	0.47172	.	0.000000	0.52532	D	0.000065	D	0.95576	0.8562	L	0.42744	1.35	0.30576	N	0.762992	P	0.39352	0.669	B	0.25140	0.058	D	0.92244	0.5803	10	0.30078	T	0.28	.	13.1166	0.59303	0.1283:0.7485:0.1232:0.0	.	102	P13647	K2C5_HUMAN	S	102;67;67;102	ENSP00000252242:G102S;ENSP00000448041:G67S;ENSP00000449651:G102S	ENSP00000252242:G102S	G	-	1	0	KRT5	51200044	0.006000	0.16342	0.253000	0.24343	0.648000	0.38561	1.113000	0.31184	0.800000	0.34041	0.655000	0.94253	GGT		0.622	KRT5-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405312.1			5	69	0	0	0	0.000602	0	5	69				
LRP1	4035	broad.mit.edu	37	12	57572802	57572802	+	Missense_Mutation	SNP	A	A	G			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr12:57572802A>G	ENST00000243077.3	+	28	5202	c.4736A>G	c.(4735-4737)tAt>tGt	p.Y1579C		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1579	EGF-like 7. {ECO:0000255|PROSITE- ProRule:PRU00076}.				aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)	p.Y1579C(1)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	ACCACCTGCTATGGTAGGAGC	0.632																																							uc001snd.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22						c.(4735-4737)TAT>TGT		low density lipoprotein-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						94.0	88.0	90.0					12																	57572802		2203	4300	6503	SO:0001583	missense	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57572802A>G	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.4736A>G	12.37:g.57572802A>G	ENSP00000243077:p.Tyr1579Cys						p.Y1579C	NM_002332	NP_002323	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	28	5202	+			1579			EGF-like 7.|Extracellular (Potential).		Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	c.4736A>G	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	A	10.54	1.379058	0.24944	.	.	ENSG00000123384	ENST00000243077	D	0.87491	-2.26	4.44	4.44	0.53790	Epidermal growth factor-like (1);	0.000000	0.64402	D	0.000014	D	0.84853	0.5564	M	0.65498	2.005	0.80722	D	1	D	0.55800	0.973	B	0.43754	0.43	D	0.85183	0.1005	10	0.52906	T	0.07	.	8.6563	0.34066	0.8294:0.0:0.0:0.1706	.	1579	Q07954	LRP1_HUMAN	C	1579	ENSP00000243077:Y1579C	ENSP00000243077:Y1579C	Y	+	2	0	LRP1	55859069	1.000000	0.71417	0.999000	0.59377	0.300000	0.27592	4.531000	0.60602	1.997000	0.58415	0.533000	0.62120	TAT		0.632	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		40	77	0	0	0	0.009718	0	40	77				
LRP1	4035	broad.mit.edu	37	12	57606328	57606328	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr12:57606328C>T	ENST00000243077.3	+	89	14091	c.13625C>T	c.(13624-13626)cCc>cTc	p.P4542L		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	4542	Interaction with MAFB. {ECO:0000250}.				aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)	p.P4542L(1)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	ATAGGGGACCCCTTGGCATAG	0.677																																							uc001snd.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22						c.(13624-13626)CCC>CTC		low density lipoprotein-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						34.0	33.0	34.0					12																	57606328		2202	4300	6502	SO:0001583	missense	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57606328C>T	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.13625C>T	12.37:g.57606328C>T	ENSP00000243077:p.Pro4542Leu						p.P4542L	NM_002332	NP_002323	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	89	14091	+			4542			Cytoplasmic (Potential).|Interaction with MAFB (By similarity).		Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	c.13625C>T	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	C	19.68	3.872025	0.72180	.	.	ENSG00000123384	ENST00000243077	D	0.91011	-2.77	4.66	4.66	0.58398	.	0.000000	0.53938	D	0.000058	D	0.87533	0.6201	L	0.44542	1.39	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	D	0.84903	0.0843	10	0.66056	D	0.02	.	16.4793	0.84153	0.0:1.0:0.0:0.0	.	4542	Q07954	LRP1_HUMAN	L	4542	ENSP00000243077:P4542L	ENSP00000243077:P4542L	P	+	2	0	LRP1	55892595	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.365000	0.79537	2.403000	0.81681	0.491000	0.48974	CCC		0.677	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		12	35	0	0	0	0.001368	0	12	35				
GLI1	2735	broad.mit.edu	37	12	57864471	57864471	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr12:57864471G>T	ENST00000228682.2	+	12	2039	c.1948G>T	c.(1948-1950)Gct>Tct	p.A650S	GLI1_ENST00000546141.1_Missense_Mutation_p.A609S|GLI1_ENST00000543426.1_Missense_Mutation_p.A522S	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	650					cerebellar cortex morphogenesis (GO:0021696)|digestive tract morphogenesis (GO:0048546)|dorsal/ventral pattern formation (GO:0009953)|epidermal cell differentiation (GO:0009913)|lung development (GO:0030324)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|notochord regression (GO:0060032)|osteoblast differentiation (GO:0001649)|pituitary gland development (GO:0021983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proximal/distal pattern formation (GO:0009954)|regulation of smoothened signaling pathway (GO:0008589)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|spermatogenesis (GO:0007283)|ventral midline development (GO:0007418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|primary cilium (GO:0072372)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription regulatory region DNA binding (GO:0044212)	p.A650S(1)		NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			TGACCGTCCTGCTCCAGCTAG	0.612																																					Pancreas(157;841 1936 10503 41495 50368)	Pancreas(157;841 1936 10503 41495 50368)	uc001snx.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(4)|ovary(4)|breast(3)|central_nervous_system(1)|urinary_tract(1)|kidney(1)|pancreas(1)	15						c.(1948-1950)GCT>TCT		GLI family zinc finger 1 isoform 1							37.0	37.0	37.0					12																	57864471		2203	4300	6503	SO:0001583	missense	2735				epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding	g.chr12:57864471G>T		CCDS8940.1, CCDS53806.1, CCDS53807.1	12q13.2-q13.3	2013-01-25	2009-03-05	2005-01-14		ENSG00000111087		"""Zinc fingers, C2H2-type"""	4317	protein-coding gene	gene with protein product		165220	"""glioma-associated oncogene homolog 1 (zinc finger protein)"", ""glioma-associated oncogene family zinc finger 1"""	GLI		2850480	Standard	NM_005269		Approved		uc001snx.3	P08151		ENST00000228682.2:c.1948G>T	12.37:g.57864471G>T	ENSP00000228682:p.Ala650Ser					GLI1_uc009zpq.2_Missense_Mutation_p.A522S	p.A650S	NM_005269	NP_005260	P08151	GLI1_HUMAN	GBM - Glioblastoma multiforme(3;3.99e-32)		12	2026	+			650					D0EUY3|E9PQQ9|F5H6H8|Q8TDN9	Missense_Mutation	SNP	ENST00000228682.2	37	c.1948G>T	CCDS8940.1	.	.	.	.	.	.	.	.	.	.	G	8.061	0.768033	0.15983	.	.	ENSG00000111087	ENST00000543426;ENST00000228682;ENST00000546141;ENST00000528467	T;T;T;T	0.12672	2.74;2.66;2.74;2.74	4.39	3.43	0.39272	.	0.000000	0.46145	D	0.000318	T	0.06917	0.0176	N	0.10916	0.065	0.33480	D	0.587304	B	0.18013	0.025	B	0.20184	0.028	T	0.11717	-1.0576	10	0.07482	T	0.82	.	13.9855	0.64331	0.0:0.1537:0.8463:0.0	.	650	P08151	GLI1_HUMAN	S	522;650;609;609	ENSP00000437607:A522S;ENSP00000228682:A650S;ENSP00000441006:A609S;ENSP00000434408:A609S	ENSP00000228682:A650S	A	+	1	0	GLI1	56150738	0.000000	0.05858	0.984000	0.44739	0.824000	0.46624	0.196000	0.17176	2.436000	0.82500	0.491000	0.48974	GCT		0.612	GLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394197.1	NM_005269		11	41	1	0	3.86212e-05	0.008291	4.42498e-05	11	41				
XPOT	11260	broad.mit.edu	37	12	64815186	64815186	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr12:64815186G>C	ENST00000332707.5	+	9	1544	c.1015G>C	c.(1015-1017)Gag>Cag	p.E339Q		NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN	exportin, tRNA	339	Necessary for interaction with Ran, nuclear localization and nuclear import.				intracellular protein transport (GO:0006886)|tRNA export from nucleus (GO:0006409)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	tRNA binding (GO:0000049)	p.E339Q(1)		NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				GBM - Glioblastoma multiforme(28;0.0404)		ACTAATTCATGAGGATGATGA	0.299																																							uc001ssb.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1015-1017)GAG>CAG		tRNA exportin							109.0	113.0	112.0					12																	64815186		2203	4300	6503	SO:0001583	missense	11260				intracellular protein transport|tRNA export from nucleus	cytoplasm|nucleoplasm	protein transporter activity|tRNA binding	g.chr12:64815186G>C	AF039022	CCDS31852.1	12q14.1	2012-10-17	2012-10-17		ENSG00000184575	ENSG00000184575		"""Exportins"""	12826	protein-coding gene	gene with protein product		603180	"""exportin, tRNA (nuclear export receptor for tRNAs)"""			9660920, 9512417	Standard	NM_007235		Approved	XPO3	uc001ssb.3	O43592	OTTHUMG00000168794	ENST00000332707.5:c.1015G>C	12.37:g.64815186G>C	ENSP00000327821:p.Glu339Gln					XPOT_uc009zqm.1_Missense_Mutation_p.E249Q	p.E339Q	NM_007235	NP_009166	O43592	XPOT_HUMAN		GBM - Glioblastoma multiforme(28;0.0404)	9	1441	+			339			Necessary for interaction with Ran, nuclear localization and nuclear import.		A6NLH1|O43784|Q8WUG2|Q9BVS7	Missense_Mutation	SNP	ENST00000332707.5	37	c.1015G>C	CCDS31852.1	.	.	.	.	.	.	.	.	.	.	G	17.84	3.487719	0.64074	.	.	ENSG00000184575	ENST00000332707	T	0.68181	-0.31	4.92	4.92	0.64577	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.79381	0.4436	M	0.62723	1.935	0.80722	D	1	D	0.76494	0.999	D	0.66716	0.946	T	0.78206	-0.2294	9	.	.	.	.	19.0104	0.92871	0.0:0.0:1.0:0.0	.	339	O43592	XPOT_HUMAN	Q	339	ENSP00000327821:E339Q	.	E	+	1	0	XPOT	63101453	1.000000	0.71417	1.000000	0.80357	0.136000	0.21042	9.579000	0.98204	2.664000	0.90586	0.655000	0.94253	GAG		0.299	XPOT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401122.1	NM_007235		34	93	0	0	0	0.002836	0	34	93				
LGR5	8549	broad.mit.edu	37	12	71966695	71966695	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr12:71966695G>T	ENST00000266674.5	+	13	1513	c.1202G>T	c.(1201-1203)cGa>cTa	p.R401L	LGR5_ENST00000536515.1_Missense_Mutation_p.R329L|LGR5_ENST00000540815.2_Missense_Mutation_p.R377L			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	401					G-protein coupled receptor signaling pathway (GO:0007186)|inner ear development (GO:0048839)|positive regulation of canonical Wnt signaling pathway (GO:0090263)	integral component of plasma membrane (GO:0005887)|trans-Golgi network membrane (GO:0032588)	G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)	p.R401L(1)	NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						CTTAGCCTCCGATCGCTGTGA	0.423																																							uc001swl.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(4)|skin(3)|ovary(1)|pancreas(1)	9						c.(1201-1203)CGA>CTA		leucine-rich repeat-containing G protein-coupled							111.0	102.0	105.0					12																	71966695		2203	4300	6503	SO:0001583	missense	8549					integral to plasma membrane	protein-hormone receptor activity	g.chr12:71966695G>T	AF062006	CCDS9000.1, CCDS61194.1, CCDS61195.1	12q22-q23	2012-08-21	2011-01-25	2004-11-12				"""GPCR / Class A : Orphans"""	4504	protein-coding gene	gene with protein product		606667	"""G protein-coupled receptor 49"", ""leucine-rich repeat-containing G protein-coupled receptor 5"""	GPR67, GPR49		9642114	Standard	NM_003667		Approved	HG38, FEX	uc001swl.4	O75473	OTTHUMG00000169543	ENST00000266674.5:c.1202G>T	12.37:g.71966695G>T	ENSP00000266674:p.Arg401Leu					LGR5_uc001swm.2_Missense_Mutation_p.R377L|LGR5_uc001swn.1_RNA	p.R401L	NM_003667	NP_003658	O75473	LGR5_HUMAN			13	1250	+			401			LRR 15.|Extracellular (Potential).		D8MCT0|Q4VAM0|Q4VAM2|Q9UP75	Missense_Mutation	SNP	ENST00000266674.5	37	c.1202G>T	CCDS9000.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.774407	0.90108	.	.	ENSG00000139292	ENST00000266674;ENST00000451585;ENST00000536515;ENST00000540815	T;T;T	0.57752	0.38;0.38;0.38	5.91	5.01	0.66863	.	0.109037	0.40554	N	0.001072	T	0.65481	0.2695	L	0.48935	1.535	0.42578	D	0.993203	P;D	0.58620	0.956;0.983	P;D	0.68483	0.755;0.958	T	0.67063	-0.5765	10	0.72032	D	0.01	.	15.3663	0.74526	0.0676:0.0:0.9324:0.0	.	377;401	O75473-2;O75473	.;LGR5_HUMAN	L	401;401;329;377	ENSP00000266674:R401L;ENSP00000443033:R329L;ENSP00000441035:R377L	ENSP00000266674:R401L	R	+	2	0	LGR5	70252962	1.000000	0.71417	0.973000	0.42090	0.956000	0.61745	5.443000	0.66581	2.813000	0.96785	0.655000	0.94253	CGA		0.423	LGR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404744.1	NM_003667		23	73	1	0	7.07758e-08	0.004656	9.05292e-08	23	73				
NAV3	89795	broad.mit.edu	37	12	78583961	78583961	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr12:78583961G>T	ENST00000397909.2	+	34	6426	c.6253G>T	c.(6253-6255)Gca>Tca	p.A2085S	NAV3_ENST00000552300.1_3'UTR|NAV3_ENST00000536525.2_Missense_Mutation_p.A2063S|NAV3_ENST00000228327.6_Missense_Mutation_p.A2063S|NAV3_ENST00000266692.7_Missense_Mutation_p.A1886S			Q8IVL0	NAV3_HUMAN	neuron navigator 3	2085						membrane (GO:0016020)|nuclear envelope (GO:0005635)		p.A2063S(1)		NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						AACAGAGGATGCAATTGCCAC	0.353										HNSCC(70;0.22)																													uc001syp.2		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						c.(6253-6255)GCA>TCA		neuron navigator 3							50.0	45.0	47.0					12																	78583961		1865	4090	5955	SO:0001583	missense	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78583961G>T	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.6253G>T	12.37:g.78583961G>T	ENSP00000381007:p.Ala2085Ser	HNSCC(70;0.22)				NAV3_uc001syo.2_Missense_Mutation_p.A2063S|NAV3_uc010sub.1_Missense_Mutation_p.A1542S|NAV3_uc009zsf.2_Missense_Mutation_p.A894S	p.A2085S	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN			34	6426	+			2085					Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37	c.6253G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.5|20.5	4.003461|4.003461	0.74932|0.74932	.|.	.|.	ENSG00000067798|ENSG00000067798	ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692;ENST00000378640;ENST00000550788|ENST00000552895	D;D;D;D;D|.	0.87650|.	-2.28;-2.28;-2.28;-2.28;-2.28|.	4.72|4.72	4.72|4.72	0.59763|0.59763	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);|.	0.000000|.	0.39834|.	U|.	0.001251|.	T|T	0.50034|0.50034	0.1592|0.1592	N|N	0.15975|0.15975	0.35|0.35	0.80722|0.80722	D|D	1|1	P;B;P;P|.	0.49961|.	0.884;0.206;0.93;0.597|.	P;B;P;B|.	0.50934|.	0.542;0.058;0.654;0.14|.	T|T	0.46721|0.46721	-0.9171|-0.9171	10|5	0.12103|.	T|.	0.63|.	-5.157|-5.157	18.0303|18.0303	0.89281|0.89281	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	2063;1886;2085;2063|.	E7EUC6;Q8IVL0-3;Q8IVL0;Q8IVL0-2|.	.;.;NAV3_HUMAN;.|.	S|F	2063;2085;2063;1886;677;685|957	ENSP00000446132:A2063S;ENSP00000381007:A2085S;ENSP00000228327:A2063S;ENSP00000266692:A1886S;ENSP00000448303:A685S|.	ENSP00000228327:A2063S|.	A|C	+|+	1|2	0|0	NAV3|NAV3	77108092|77108092	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	5.994000|5.994000	0.70623|0.70623	2.332000|2.332000	0.79248|0.79248	0.591000|0.591000	0.81541|0.81541	GCA|TGC		0.353	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		22	25	1	0	1.22574e-08	0.002299	1.61016e-08	22	25				
MYF6	4618	broad.mit.edu	37	12	81101537	81101537	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr12:81101537C>A	ENST00000228641.3	+	1	261	c.39C>A	c.(37-39)ttC>ttA	p.F13L		NM_002469.2	NP_002460.1	P23409	MYF6_HUMAN	myogenic factor 6 (herculin)	13					muscle cell differentiation (GO:0042692)|muscle cell fate commitment (GO:0042693)|muscle tissue morphogenesis (GO:0060415)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal muscle cell differentiation (GO:0035914)|skeletal muscle tissue development (GO:0007519)|skeletal muscle tissue regeneration (GO:0043403)|somitogenesis (GO:0001756)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.F13L(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|skin(1)	26						CCTATTTCTTCTACTTGGATG	0.493																																							uc001szf.1		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(37-39)TTC>TTA		myogenic factor 6							104.0	111.0	108.0					12																	81101537		2203	4300	6503	SO:0001583	missense	4618				muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity	g.chr12:81101537C>A		CCDS9019.1	12q21	2013-05-21				ENSG00000111046		"""Basic helix-loop-helix proteins"""	7566	protein-coding gene	gene with protein product	"""muscle-specific regulatory factor 4"""	159991				8978788	Standard	NM_002469		Approved	MRF4, bHLHc4	uc001szf.2	P23409		ENST00000228641.3:c.39C>A	12.37:g.81101537C>A	ENSP00000228641:p.Phe13Leu						p.F13L	NM_002469	NP_002460	P23409	MYF6_HUMAN			1	92	+			13					B2R898|Q53X80|Q6FHI9	Missense_Mutation	SNP	ENST00000228641.3	37	c.39C>A	CCDS9019.1	.	.	.	.	.	.	.	.	.	.	C	17.29	3.351137	0.61183	.	.	ENSG00000111046	ENST00000228641	T	0.76448	-1.02	5.62	4.73	0.59995	Myogenic basic muscle-specific protein (2);	0.000000	0.85682	D	0.000000	D	0.86151	0.5864	M	0.75777	2.31	0.41460	D	0.988033	D	0.76494	0.999	D	0.79108	0.992	D	0.87332	0.2325	10	0.87932	D	0	.	10.6676	0.45739	0.0:0.8544:0.0:0.1456	.	13	P23409	MYF6_HUMAN	L	13	ENSP00000228641:F13L	ENSP00000228641:F13L	F	+	3	2	MYF6	79625668	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	1.879000	0.39618	1.389000	0.46526	0.655000	0.94253	TTC		0.493	MYF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407756.1	NM_002469		9	88	1	0	3.86212e-05	0.008291	4.42498e-05	9	88				
PPFIA2	8499	broad.mit.edu	37	12	81734915	81734915	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr12:81734915G>T	ENST00000549396.1	-	20	2495	c.2335C>A	c.(2335-2337)Cct>Act	p.P779T	PPFIA2_ENST00000549325.1_Missense_Mutation_p.P761T|PPFIA2_ENST00000541017.1_5'UTR|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000552948.1_Missense_Mutation_p.P779T|PPFIA2_ENST00000548586.1_Missense_Mutation_p.P779T|PPFIA2_ENST00000443686.3_Missense_Mutation_p.P680T|PPFIA2_ENST00000541570.2_Missense_Mutation_p.P346T|PPFIA2_ENST00000407050.4_Missense_Mutation_p.P705T|PPFIA2_ENST00000333447.7_Missense_Mutation_p.P761T|PPFIA2_ENST00000550584.2_Missense_Mutation_p.P779T|PPFIA2_ENST00000550359.2_Missense_Mutation_p.P626T	NM_001220476.1|NM_001282536.1|NM_003625.3	NP_001207405.1|NP_001269465.1|NP_003616.2	O75334	LIPA2_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	779					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|presynaptic active zone (GO:0048786)		p.P779S(1)|p.P779T(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						AGGGCTCTAGGGGTAGGAGGA	0.453																																							uc001szo.1		NA																	2	Substitution - Missense(2)		lung(1)|endometrium(1)	ovary(3)|lung(2)|pancreas(1)	6						c.(2335-2337)CCT>ACT		PTPRF interacting protein alpha 2							268.0	276.0	273.0					12																	81734915		1962	4167	6129	SO:0001583	missense	8499							g.chr12:81734915G>T	AF034799	CCDS55850.1, CCDS55851.1, CCDS55852.1, CCDS55853.1, CCDS55854.1, CCDS55855.1, CCDS55856.1, CCDS55857.1, CCDS59236.1, CCDS73503.1	12q21.31	2013-01-10						"""Sterile alpha motif (SAM) domain containing"""	9246	protein-coding gene	gene with protein product	"""Liprin-alpha2"""	603143				9624153	Standard	NM_003625		Approved		uc031qis.1	O75334		ENST00000549396.1:c.2335C>A	12.37:g.81734915G>T	ENSP00000450337:p.Pro779Thr					PPFIA2_uc010sue.1_Intron|PPFIA2_uc010sug.1_RNA|PPFIA2_uc010suh.1_RNA|PPFIA2_uc010sui.1_RNA|PPFIA2_uc010suj.1_RNA|PPFIA2_uc009zsi.1_RNA|PPFIA2_uc010suf.1_RNA|PPFIA2_uc009zsh.2_RNA	p.P779T	NM_003625	NP_003616	B7Z663	B7Z663_HUMAN			20	2496	-			705					B3KVT5|B3KXA0|B7Z2A6|B7Z3U9|B7Z663|B7ZKZ5|E7ERB8|E7ETG6|F8VP68|Q2M3G8	Missense_Mutation	SNP	ENST00000549396.1	37	c.2335C>A	CCDS55857.1	.	.	.	.	.	.	.	.	.	.	G	19.99	3.929090	0.73327	.	.	ENSG00000139220	ENST00000549396;ENST00000549325;ENST00000541570;ENST00000407050;ENST00000541501;ENST00000333447;ENST00000548586;ENST00000443686;ENST00000552948	T;T;T;T;T;T;T;T	0.23147	1.92;1.92;1.92;1.92;1.92;1.92;1.92;1.92	5.39	4.49	0.54785	.	0.055974	0.64402	N	0.000001	T	0.53802	0.1819	M	0.81802	2.56	0.80722	D	1	D	0.71674	0.998	D	0.76071	0.987	T	0.61332	-0.7084	10	0.59425	D	0.04	-14.9085	16.4293	0.83835	0.0:0.1317:0.8683:0.0	.	779	O75334	LIPA2_HUMAN	T	779;761;346;705;790;761;779;680;779	ENSP00000450337:P779T;ENSP00000450298:P761T;ENSP00000438337:P346T;ENSP00000385093:P705T;ENSP00000327416:P761T;ENSP00000449338:P779T;ENSP00000388373:P680T;ENSP00000447868:P779T	ENSP00000327416:P761T	P	-	1	0	PPFIA2	80259046	1.000000	0.71417	0.978000	0.43139	0.845000	0.48019	9.388000	0.97237	1.397000	0.46682	-0.176000	0.13171	CCT		0.453	PPFIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408030.1			10	47	1	0	0.00136819	0.001368	0.00148597	10	47				
PPFIA2	8499	broad.mit.edu	37	12	81751860	81751860	+	Splice_Site	SNP	C	C	G			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr12:81751860C>G	ENST00000549396.1	-	16	1934		c.e16+1		PPFIA2_ENST00000549325.1_Splice_Site|PPFIA2_ENST00000541017.1_Splice_Site|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000552948.1_Splice_Site|PPFIA2_ENST00000548586.1_Splice_Site|PPFIA2_ENST00000443686.3_Splice_Site|PPFIA2_ENST00000541570.2_Splice_Site|PPFIA2_ENST00000407050.4_Splice_Site|PPFIA2_ENST00000333447.7_Splice_Site|PPFIA2_ENST00000550584.2_Splice_Site|PPFIA2_ENST00000550359.2_Splice_Site	NM_001220476.1|NM_001282536.1|NM_003625.3	NP_001207405.1|NP_001269465.1|NP_003616.2	O75334	LIPA2_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2						cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|presynaptic active zone (GO:0048786)		p.?(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						AAAAGATTAACCTTTGGCTCA	0.358																																							uc001szo.1		NA																	1	Unknown(1)		lung(1)	ovary(3)|lung(2)|pancreas(1)	6						c.e16+1		PTPRF interacting protein alpha 2							44.0	42.0	43.0					12																	81751860		1826	4075	5901	SO:0001630	splice_region_variant	8499							g.chr12:81751860C>G	AF034799	CCDS55850.1, CCDS55851.1, CCDS55852.1, CCDS55853.1, CCDS55854.1, CCDS55855.1, CCDS55856.1, CCDS55857.1, CCDS59236.1, CCDS73503.1	12q21.31	2013-01-10						"""Sterile alpha motif (SAM) domain containing"""	9246	protein-coding gene	gene with protein product	"""Liprin-alpha2"""	603143				9624153	Standard	NM_003625		Approved		uc031qis.1	O75334		ENST00000549396.1:c.1773+1G>C	12.37:g.81751860C>G						PPFIA2_uc010sue.1_Intron|PPFIA2_uc010sug.1_Splice_Site|PPFIA2_uc010suh.1_Splice_Site|PPFIA2_uc010sui.1_Splice_Site|PPFIA2_uc010suj.1_Splice_Site|PPFIA2_uc009zsi.1_Splice_Site|PPFIA2_uc010suf.1_Splice_Site|PPFIA2_uc009zsh.2_Splice_Site	p.K591_splice	NM_003625	NP_003616	B7Z663	B7Z663_HUMAN			16	1934	-								B3KVT5|B3KXA0|B7Z2A6|B7Z3U9|B7Z663|B7ZKZ5|E7ERB8|E7ETG6|F8VP68|Q2M3G8	Splice_Site	SNP	ENST00000549396.1	37	c.1773_splice	CCDS55857.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.139324	0.77775	.	.	ENSG00000139220	ENST00000549396;ENST00000549325;ENST00000541570;ENST00000407050;ENST00000541501;ENST00000333447;ENST00000548586;ENST00000443686;ENST00000552948;ENST00000553058	.	.	.	5.38	5.38	0.77491	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.1226	0.93369	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PPFIA2	80275991	1.000000	0.71417	0.996000	0.52242	0.874000	0.50279	4.091000	0.57700	2.544000	0.85801	0.591000	0.81541	.		0.358	PPFIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408030.1		Intron	2	13	0	0	0	0.004672	0	2	13				
SLC6A15	55117	broad.mit.edu	37	12	85260837	85260837	+	Missense_Mutation	SNP	A	A	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr12:85260837A>T	ENST00000266682.5	-	10	2172	c.1631T>A	c.(1630-1632)gTa>gAa	p.V544E	SLC6A15_ENST00000309283.7_Missense_Mutation_p.V252E|SLC6A15_ENST00000552192.1_Missense_Mutation_p.V437E	NM_182767.5	NP_877499.1	Q9H2J7	S6A15_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 15	544					amino acid transport (GO:0006865)|ion transport (GO:0006811)|leucine transport (GO:0015820)|neurotransmitter transport (GO:0006836)|neutral amino acid transport (GO:0015804)|proline transport (GO:0015824)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter transporter activity (GO:0005326)|neurotransmitter:sodium symporter activity (GO:0005328)|proline:sodium symporter activity (GO:0005298)	p.V544E(1)		kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						AACAAAGCATACAGCAATATT	0.294																																							uc001szv.2		NA																	1	Substitution - Missense(1)		lung(1)	pancreas(2)|ovary(1)	3						c.(1630-1632)GTA>GAA		solute carrier family 6, member 15 isoform 1							86.0	82.0	83.0					12																	85260837		2203	4298	6501	SO:0001583	missense	55117				cellular nitrogen compound metabolic process|leucine transport|proline transport	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chr12:85260837A>T	AF265577	CCDS9026.1, CCDS9027.1, CCDS53816.1	12q21.31	2013-07-15	2008-09-02		ENSG00000072041	ENSG00000072041		"""Solute carriers"""	13621	protein-coding gene	gene with protein product	"""homolog of rat orphan transporter v7-3"", ""sodium/chloride dependent neurotransmitter transporter Homo sapiens orphan neurotransmitter transporter NTT7"""	607971	"""solute carrier family 6 (neurotransmitter transporter), member 15"""			10471414, 11112352, 16185194	Standard	NM_182767		Approved	hv7-3, NTT73, FLJ10316, V7-3, SBAT1	uc001szv.4	Q9H2J7	OTTHUMG00000169742	ENST00000266682.5:c.1631T>A	12.37:g.85260837A>T	ENSP00000266682:p.Val544Glu					SLC6A15_uc010sul.1_Missense_Mutation_p.V437E|SLC6A15_uc001szw.1_Missense_Mutation_p.V252E|uc001szx.2_5'Flank	p.V544E	NM_182767	NP_877499	Q9H2J7	S6A15_HUMAN			10	2124	-			544			Helical; Name=10; (Potential).		A8K592|B7Z2P7|E7ESJ5|Q9H9F5	Missense_Mutation	SNP	ENST00000266682.5	37	c.1631T>A	CCDS9026.1	.	.	.	.	.	.	.	.	.	.	A	25.0	4.593876	0.86953	.	.	ENSG00000072041	ENST00000309283;ENST00000266682;ENST00000552192;ENST00000548267	T;T;T	0.80480	-1.38;-1.38;-1.38	5.47	5.47	0.80525	.	0.113109	0.64402	D	0.000012	D	0.92880	0.7735	H	0.96970	3.915	0.80722	D	1	D;D	0.58620	0.979;0.983	D;D	0.66979	0.913;0.948	D	0.95152	0.8273	10	0.87932	D	0	.	15.5691	0.76320	1.0:0.0:0.0:0.0	.	252;544	F8WJN6;Q9H2J7	.;S6A15_HUMAN	E	252;544;437;22	ENSP00000311645:V252E;ENSP00000266682:V544E;ENSP00000450145:V437E	ENSP00000266682:V544E	V	-	2	0	SLC6A15	83784968	1.000000	0.71417	0.937000	0.37676	0.989000	0.77384	8.962000	0.93254	2.070000	0.61991	0.477000	0.44152	GTA		0.294	SLC6A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405678.1	NM_018057, NM_182767		10	27	0	0	0	0.001368	0	10	27				
LRRIQ1	84125	broad.mit.edu	37	12	85623409	85623409	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr12:85623409G>C	ENST00000393217.2	+	25	4998	c.4937G>C	c.(4936-4938)aGt>aCt	p.S1646T	LRRIQ1_ENST00000528777.3_3'UTR	NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1646								p.S1646T(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		GAAACGACTAGTTCCAGAAAT	0.343																																							uc001tac.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(1)|skin(1)	6						c.(4936-4938)AGT>ACT		leucine-rich repeats and IQ motif containing 1							94.0	88.0	90.0					12																	85623409		1832	4079	5911	SO:0001583	missense	84125							g.chr12:85623409G>C	AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.4937G>C	12.37:g.85623409G>C	ENSP00000376910:p.Ser1646Thr						p.S1646T	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN		GBM - Glioblastoma multiforme(134;0.212)	25	5048	+			1646					Q567P4|Q9BS17|Q9HA36	Missense_Mutation	SNP	ENST00000393217.2	37	c.4937G>C	CCDS41816.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.587|8.587	0.883589|0.883589	0.17467|0.17467	.|.	.|.	ENSG00000133640|ENSG00000133640	ENST00000393217|ENST00000526363	T|.	0.59083|.	0.29|.	5.6|5.6	2.8|2.8	0.32819|0.32819	.|.	.|.	.|.	.|.	.|.	T|T	0.29588|0.29588	0.0738|0.0738	N|N	0.24115|0.24115	0.695|0.695	0.23089|0.23089	N|N	0.998317|0.998317	B|.	0.24132|.	0.098|.	B|.	0.24006|.	0.05|.	T|T	0.20371|0.20371	-1.0277|-1.0277	9|5	0.59425|.	D|.	0.04|.	.|.	8.2324|8.2324	0.31605|0.31605	0.1385:0.1279:0.7336:0.0|0.1385:0.1279:0.7336:0.0	.|.	1646|.	Q96JM4|.	LRIQ1_HUMAN|.	T|L	1646|67	ENSP00000376910:S1646T|.	ENSP00000376910:S1646T|.	S|V	+|+	2|1	0|0	LRRIQ1|LRRIQ1	84147540|84147540	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.964000|0.964000	0.63967|0.63967	2.356000|2.356000	0.44116|0.44116	0.410000|0.410000	0.25675|0.25675	-0.909000|-0.909000	0.02823|0.02823	AGT|GTT		0.343	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388249.2	NM_032165		13	53	0	0	0	0.003163	0	13	53				
UTP20	27340	broad.mit.edu	37	12	101748667	101748667	+	Missense_Mutation	SNP	A	A	G			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr12:101748667A>G	ENST00000261637.4	+	41	5339	c.5165A>G	c.(5164-5166)gAt>gGt	p.D1722G		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	1722					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|negative regulation of cell proliferation (GO:0008285)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|preribosome, small subunit precursor (GO:0030688)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)	p.D1722G(1)		NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						GAGCGTGTGGATGAGGAAGAG	0.433																																							uc001tia.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(2)	4						c.(5164-5166)GAT>GGT		down-regulated in metastasis							98.0	85.0	90.0					12																	101748667		2203	4300	6503	SO:0001583	missense	27340				endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding	g.chr12:101748667A>G	AJ006778	CCDS9081.1	12q23	2006-02-11				ENSG00000120800			17897	protein-coding gene	gene with protein product	"""down regulated in metastasis"""	612822				9673349, 15590835, 12837249	Standard	NM_014503		Approved	DRIM	uc001tia.1	O75691	OTTHUMG00000170270	ENST00000261637.4:c.5165A>G	12.37:g.101748667A>G	ENSP00000261637:p.Asp1722Gly						p.D1722G	NM_014503	NP_055318	O75691	UTP20_HUMAN			41	5321	+			1722					Q9H3H4	Missense_Mutation	SNP	ENST00000261637.4	37	c.5165A>G	CCDS9081.1	.	.	.	.	.	.	.	.	.	.	A	7.980	0.750919	0.15778	.	.	ENSG00000120800	ENST00000261637	T	0.19394	2.15	5.79	2.08	0.27032	Armadillo-type fold (1);	0.458216	0.25299	N	0.031666	T	0.07548	0.0190	N	0.03608	-0.345	0.20821	N	0.999841	B	0.13145	0.007	B	0.12156	0.007	T	0.30534	-0.9975	10	0.27082	T	0.32	-9.3775	5.1205	0.14858	0.6841:0.1527:0.1631:0.0	.	1722	O75691	UTP20_HUMAN	G	1722	ENSP00000261637:D1722G	ENSP00000261637:D1722G	D	+	2	0	UTP20	100272798	0.062000	0.20869	0.085000	0.20634	0.011000	0.07611	0.480000	0.22244	0.452000	0.26830	-1.106000	0.02097	GAT		0.433	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408242.1	NM_014503		41	39	0	0	0	0.006999	0	41	39				
STAB2	55576	broad.mit.edu	37	12	104126897	104126897	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr12:104126897C>A	ENST00000388887.2	+	51	5601	c.5397C>A	c.(5395-5397)ttC>ttA	p.F1799L		NM_017564.9	NP_060034.9			stabilin 2									p.F1799L(1)		NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						ACTTCCTGTTCAACCAAGACA	0.478																																							uc001tjw.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(9)|skin(5)	14						c.(5395-5397)TTC>TTA		stabilin 2 precursor							238.0	200.0	213.0					12																	104126897		2203	4300	6503	SO:0001583	missense	55576				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr12:104126897C>A	AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"""hyaluronic acid receptor for endocytosis"""	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.5397C>A	12.37:g.104126897C>A	ENSP00000373539:p.Phe1799Leu					STAB2_uc009zug.2_RNA	p.F1799L	NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN			51	5583	+			1799			Extracellular (Potential).|FAS1 6.			Missense_Mutation	SNP	ENST00000388887.2	37	c.5397C>A	CCDS31888.1	.	.	.	.	.	.	.	.	.	.	C	16.25	3.069513	0.55539	.	.	ENSG00000136011	ENST00000388887;ENST00000258495	D	0.90676	-2.71	5.11	3.25	0.37280	FAS1 domain (5);	0.059089	0.64402	D	0.000002	T	0.81460	0.4827	N	0.12637	0.245	0.32660	N	0.518185	D	0.56968	0.978	P	0.49799	0.622	T	0.79188	-0.1906	10	0.15066	T	0.55	.	6.1189	0.20142	0.0:0.6925:0.0:0.3075	.	1799	Q8WWQ8	STAB2_HUMAN	L	1799;486	ENSP00000373539:F1799L	ENSP00000258495:F486L	F	+	3	2	STAB2	102651027	0.893000	0.30496	0.987000	0.45799	0.321000	0.28281	1.229000	0.32600	2.383000	0.81215	0.655000	0.94253	TTC		0.478	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1			89	101	1	0	6.01484e-32	0.00361	1.12585e-31	89	101				
ACACB	32	broad.mit.edu	37	12	109605836	109605836	+	Missense_Mutation	SNP	G	G	T	rs78715638		TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr12:109605836G>T	ENST00000338432.7	+	4	1041	c.922G>T	c.(922-924)Gca>Tca	p.A308S	ACACB_ENST00000377848.3_Missense_Mutation_p.A308S|ACACB_ENST00000377854.5_Missense_Mutation_p.A308S			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	308	Biotin carboxylation.				acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)	p.A308S(1)		NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	TAAGGCCAACGCAGGTACCTG	0.627																																							uc001tob.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	8						c.(922-924)GCA>TCA		acetyl-Coenzyme A carboxylase beta	Biotin(DB00121)						125.0	81.0	96.0					12																	109605836		2203	4300	6503	SO:0001583	missense	32				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr12:109605836G>T	U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 2"""	601557	"""acetyl-Coenzyme A carboxylase beta"""			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.922G>T	12.37:g.109605836G>T	ENSP00000341044:p.Ala308Ser					ACACB_uc001toc.2_Missense_Mutation_p.A308S	p.A308S	NM_001093	NP_001084	O00763	ACACB_HUMAN			4	1041	+			308			Biotin carboxylation.		A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Missense_Mutation	SNP	ENST00000338432.7	37	c.922G>T	CCDS31898.1	.	.	.	.	.	.	.	.	.	.	G	32	5.164881	0.94727	.	.	ENSG00000076555	ENST00000338432;ENST00000377848;ENST00000377854	D;D;D	0.96940	-4.18;-4.18;-4.18	5.07	5.07	0.68467	Pre-ATP-grasp fold (1);PreATP-grasp-like fold (1);Biotin carboxylation domain (1);Carbamoyl-phosphate synthase, large subunit, N-terminal (1);	0.210918	0.47455	D	0.000239	D	0.96137	0.8741	L	0.42686	1.345	0.80722	D	1	P	0.44734	0.842	P	0.51895	0.683	D	0.96414	0.9306	10	0.54805	T	0.06	.	18.0564	0.89365	0.0:0.0:1.0:0.0	.	308	O00763	ACACB_HUMAN	S	308	ENSP00000341044:A308S;ENSP00000367079:A308S;ENSP00000367085:A308S	ENSP00000341044:A308S	A	+	1	0	ACACB	108090219	1.000000	0.71417	0.996000	0.52242	0.952000	0.60782	9.842000	0.99487	2.352000	0.79861	0.563000	0.77884	GCA		0.627	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	NM_001093		5	34	1	0	3.59834e-05	0.001168	4.1695e-05	5	34				
CUX2	23316	broad.mit.edu	37	12	111748370	111748370	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr12:111748370C>A	ENST00000261726.6	+	15	1938	c.1784C>A	c.(1783-1785)cCc>cAc	p.P595H		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	595					cellular response to organic substance (GO:0071310)|cognition (GO:0050890)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of synapse assembly (GO:0051965)|short-term memory (GO:0007614)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)	p.P595H(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						CTAGCCCGGCCCAAGCCCTGG	0.602																																							uc001tsa.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)|breast(1)	6						c.(1783-1785)CCC>CAC		cut-like 2							58.0	66.0	63.0					12																	111748370		2078	4211	6289	SO:0001583	missense	23316					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:111748370C>A	AB006631	CCDS41837.1	12q24.12	2011-06-20	2007-11-07	2007-11-07	ENSG00000111249	ENSG00000111249		"""Homeoboxes / CUT class"""	19347	protein-coding gene	gene with protein product		610648	"""cut-like 2 (Drosophila)"""	CUTL2			Standard	NM_015267		Approved	KIAA0293, CDP2	uc001tsa.2	O14529	OTTHUMG00000169546	ENST00000261726.6:c.1784C>A	12.37:g.111748370C>A	ENSP00000261726:p.Pro595His						p.P595H	NM_015267	NP_056082	O14529	CUX2_HUMAN			15	1937	+			595			CUT 1.		A7E2Y4	Missense_Mutation	SNP	ENST00000261726.6	37	c.1784C>A	CCDS41837.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.549767	0.86127	.	.	ENSG00000111249	ENST00000261726	D	0.92858	-3.12	4.77	4.77	0.60923	Homeodomain protein CUT (2);Lambda repressor-like, DNA-binding (2);	0.000000	0.85682	D	0.000000	D	0.96552	0.8875	M	0.86953	2.85	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97436	1.0018	10	0.87932	D	0	-22.7283	17.7934	0.88562	0.0:1.0:0.0:0.0	.	595	O14529	CUX2_HUMAN	H	595	ENSP00000261726:P595H	ENSP00000261726:P595H	P	+	2	0	CUX2	110232753	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.814000	0.86154	2.201000	0.70794	0.313000	0.20887	CCC		0.602	CUX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404765.1	NM_015267		39	59	1	0	1.07121e-22	0.006999	1.91394e-22	39	59				
CIT	11113	broad.mit.edu	37	12	120159163	120159163	+	Missense_Mutation	SNP	A	A	G			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr12:120159163A>G	ENST00000261833.7	-	28	3609	c.3557T>C	c.(3556-3558)cTa>cCa	p.L1186P	CIT_ENST00000392521.2_Missense_Mutation_p.L1228P|CIT_ENST00000537607.1_5'UTR	NM_007174.2	NP_009105.1	O14578	CTRO_HUMAN	citron rho-interacting serine/threonine kinase	1186	Interaction with Rho/Rac.				cytokinesis (GO:0000910)|dendrite development (GO:0016358)|G2/M transition of mitotic cell cycle (GO:0000086)|generation of neurons (GO:0048699)|Golgi organization (GO:0007030)|intracellular signal transduction (GO:0035556)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of dendrite morphogenesis (GO:0050774)|regulation of actin polymerization or depolymerization (GO:0008064)|spermatogenesis (GO:0007283)	actin cytoskeleton (GO:0015629)|Golgi cisterna (GO:0031985)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|vacuole (GO:0005773)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)	p.L1229P(1)|p.L1186P(1)|p.L1228P(1)		breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		TGTCTTCAGTAGATCAGCCCG	0.488																																							uc001txi.1		NA																	3	Substitution - Missense(3)		lung(3)	ovary(6)|urinary_tract(1)|lung(1)|breast(1)|skin(1)	10						c.(3556-3558)CTA>CCA		citron							151.0	131.0	138.0					12																	120159163		2203	4300	6503	SO:0001583	missense	11113				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity	g.chr12:120159163A>G	AB023166	CCDS9192.1, CCDS55891.1	12q24.23	2014-04-23	2014-04-23		ENSG00000122966	ENSG00000122966			1985	protein-coding gene	gene with protein product	"""serine/threonine kinase 21"""	605629	"""citron (rho-interacting, serine/threonine kinase 21)"""			9792683	Standard	NM_001206999		Approved	KIAA0949, STK21, CRIK	uc001txj.2	O14578	OTTHUMG00000134325	ENST00000261833.7:c.3557T>C	12.37:g.120159163A>G	ENSP00000261833:p.Leu1186Pro					CIT_uc001txh.1_Missense_Mutation_p.L720P|CIT_uc001txj.1_Missense_Mutation_p.L1228P	p.L1186P	NM_007174	NP_009105	O14578	CTRO_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.211)	28	3610	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)	1186			Potential.|Interaction with Rho/Rac.		Q2M5E1|Q6XUH8|Q86UQ9|Q9UPZ7	Missense_Mutation	SNP	ENST00000261833.7	37	c.3557T>C	CCDS9192.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	23.1|23.1	4.377271|4.377271	0.82682|0.82682	.|.	.|.	ENSG00000122966|ENSG00000122966	ENST00000392521;ENST00000261833|ENST00000392520	T;T|.	0.64438|.	-0.07;-0.1|.	5.91|5.91	5.91|5.91	0.95273|0.95273	.|.	0.091472|.	0.48767|.	D|.	0.000165|.	T|T	0.68897|0.68897	0.3051|0.3051	L|L	0.51422|0.51422	1.61|1.61	0.80722|0.80722	D|D	1|1	D;D;P|.	0.71674|.	0.998;0.998;0.898|.	P;P;B|.	0.61477|.	0.889;0.889;0.434|.	T|T	0.66212|0.66212	-0.5980|-0.5980	10|5	0.38643|.	T|.	0.18|.	.|.	16.3483|16.3483	0.83171|0.83171	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	1228;1186;719|.	Q2M5E1;O14578;O14578-3|.	.;CTRO_HUMAN;.|.	P|H	1228;1186|814	ENSP00000376306:L1228P;ENSP00000261833:L1186P|.	ENSP00000261833:L1186P|.	L|Y	-|-	2|1	0|0	CIT|CIT	118643546|118643546	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	9.339000|9.339000	0.96797|0.96797	2.254000|2.254000	0.74563|0.74563	0.533000|0.533000	0.62120|0.62120	CTA|TAC		0.488	CIT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259410.4	NM_007174		19	86	0	0	0	0.010504	0	19	86				
RNF10	9921	broad.mit.edu	37	12	121001251	121001251	+	Silent	SNP	G	G	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr12:121001251G>A	ENST00000325954.4	+	9	1817	c.1356G>A	c.(1354-1356)gaG>gaA	p.E452E	RNF10_ENST00000413266.2_Silent_p.E457E	NM_014868.4	NP_055683.3	Q8N5U6	RNF10_HUMAN	ring finger protein 10	452					negative regulation of Schwann cell proliferation (GO:0010626)|positive regulation of myelination (GO:0031643)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autoubiquitination (GO:0051865)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription regulatory region DNA binding (GO:0044212)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E452E(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	27	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TAGAAGAGGAGGAAGCAGTGT	0.507																																							uc001typ.3		NA																	1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(1354-1356)GAG>GAA		ring finger protein 10							86.0	90.0	89.0					12																	121001251		2203	4300	6503	SO:0001819	synonymous_variant	9921				negative regulation of Schwann cell proliferation|positive regulation of myelination|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:121001251G>A	AB027196	CCDS9201.1	12q23-q24	2013-01-09			ENSG00000022840	ENSG00000022840		"""RING-type (C3HC4) zinc fingers"""	10055	protein-coding gene	gene with protein product							Standard	NM_014868		Approved	KIAA0262, RIE2	uc001typ.4	Q8N5U6	OTTHUMG00000168999	ENST00000325954.4:c.1356G>A	12.37:g.121001251G>A						RNF10_uc010szk.1_RNA|RNF10_uc001tyq.3_Silent_p.E363E	p.E452E	NM_014868	NP_055683	Q8N5U6	RNF10_HUMAN			9	1839	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		452					Q92550|Q9NPP8|Q9ULW4	Silent	SNP	ENST00000325954.4	37	c.1356G>A	CCDS9201.1	.	.	.	.	.	.	.	.	.	.	G	5.518	0.280518	0.10458	.	.	ENSG00000022840	ENST00000537740	.	.	.	6.06	1.27	0.21489	.	.	.	.	.	T	0.57417	0.2052	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50065	-0.8871	4	.	.	.	.	9.1262	0.36816	0.3388:0.0:0.6612:0.0	.	.	.	.	K	135	.	.	R	+	2	0	RNF10	119485634	1.000000	0.71417	1.000000	0.80357	0.618000	0.37518	0.838000	0.27572	0.173000	0.19788	-0.827000	0.03088	AGG		0.507	RNF10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401898.4			20	58	0	0	0	0.010504	0	20	58				
HPD	3242	broad.mit.edu	37	12	122284813	122284813	+	Silent	SNP	A	A	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr12:122284813A>T	ENST00000289004.4	-	11	821	c.786T>A	c.(784-786)gcT>gcA	p.A262A	HPD_ENST00000543163.1_Silent_p.A223A|HPD_ENST00000543869.2_5'UTR	NM_002150.2	NP_002141	P32754	HPPD_HUMAN	4-hydroxyphenylpyruvate dioxygenase	262					cellular nitrogen compound metabolic process (GO:0034641)|L-phenylalanine catabolic process (GO:0006559)|small molecule metabolic process (GO:0044281)|tyrosine catabolic process (GO:0006572)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	4-hydroxyphenylpyruvate dioxygenase activity (GO:0003868)|metal ion binding (GO:0046872)	p.A262A(1)		breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|urinary_tract(1)	18	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000105)|Epithelial(86;0.000352)|BRCA - Breast invasive adenocarcinoma(302;0.225)	Nitisinone(DB00348)	GCTGGACCCCAGCGCCCCCGT	0.567																																							uc001ubj.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(784-786)GCT>GCA		4-hydroxyphenylpyruvate dioxygenase	Nitisinone(DB00348)						96.0	83.0	87.0					12																	122284813		2203	4300	6503	SO:0001819	synonymous_variant	3242				L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	4-hydroxyphenylpyruvate dioxygenase activity|metal ion binding	g.chr12:122284813A>T	BC014790	CCDS9224.1, CCDS53839.1	12q24.31	2013-09-19			ENSG00000158104	ENSG00000158104	1.13.11.27		5147	protein-coding gene	gene with protein product	"""glyoxalase domain containing 3"""	609695		PPD			Standard	NM_001171993		Approved	4-HPPD, 4HPPD, GLOD3	uc001ubj.3	P32754	OTTHUMG00000169081	ENST00000289004.4:c.786T>A	12.37:g.122284813A>T						HPD_uc001ubk.2_Silent_p.A223A	p.A262A	NM_002150	NP_002141	P32754	HPPD_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000105)|Epithelial(86;0.000352)|BRCA - Breast invasive adenocarcinoma(302;0.225)	11	826	-	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		262					A8K461|B3KQ63|Q13234	Silent	SNP	ENST00000289004.4	37	c.786T>A	CCDS9224.1																																																																																				0.567	HPD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402184.1	NM_002150		10	23	0	0	0	0.001368	0	10	23				
SBNO1	55206	broad.mit.edu	37	12	123780522	123780522	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr12:123780522G>A	ENST00000602398.1	-	32	4242	c.4115C>T	c.(4114-4116)gCg>gTg	p.A1372V	SBNO1_ENST00000602750.1_Missense_Mutation_p.A1371V|SBNO1_ENST00000420886.2_Missense_Mutation_p.A1372V|SBNO1_ENST00000267176.4_Missense_Mutation_p.A1371V			A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	1372					regulation of transcription, DNA-templated (GO:0006355)			p.A1371V(2)		NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		CTGTTGGACCGCAAGCTGTTG	0.433																																							uc010tap.1		NA																	2	Substitution - Missense(2)		lung(1)|prostate(1)	breast(5)|skin(2)|ovary(1)|kidney(1)	9						c.(4114-4116)GCG>GTG		sno, strawberry notch homolog 1							340.0	303.0	316.0					12																	123780522		2203	4300	6503	SO:0001583	missense	55206						ATP binding|DNA binding|hydrolase activity	g.chr12:123780522G>A	AK001563	CCDS9246.1, CCDS53844.1	12q24.31	2006-10-06	2006-10-06			ENSG00000139697			22973	protein-coding gene	gene with protein product		614274	"""sno, strawberry notch homolog 1 (Drosophila)"""				Standard	NM_018183		Approved	MOP3, FLJ10701, FLJ10833, Sno	uc010tap.2	A3KN83		ENST00000602398.1:c.4115C>T	12.37:g.123780522G>A	ENSP00000473665:p.Ala1372Val					SBNO1_uc009zxv.2_RNA|SBNO1_uc010tao.1_Missense_Mutation_p.A1371V|SBNO1_uc010taq.1_Missense_Mutation_p.A323V	p.A1372V	NM_018183	NP_060653	A3KN83	SBNO1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)	31	4115	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		1372					Q05C06|Q3ZTS3|Q9H3T8|Q9NVB2	Missense_Mutation	SNP	ENST00000602398.1	37	c.4115C>T	CCDS53844.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.622923	0.87460	.	.	ENSG00000139697	ENST00000420886;ENST00000267176	T;T	0.32515	1.45;1.45	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	T	0.45236	0.1332	L	0.27053	0.805	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.73708	0.959;0.981	T	0.12785	-1.0534	10	0.33940	T	0.23	-19.465	20.5792	0.99380	0.0:0.0:1.0:0.0	.	1372;1371	A3KN83;A3KN83-2	SBNO1_HUMAN;.	V	1372;1371	ENSP00000387361:A1372V;ENSP00000267176:A1371V	ENSP00000267176:A1371V	A	-	2	0	SBNO1	122346475	1.000000	0.71417	0.790000	0.31976	0.976000	0.68499	9.431000	0.97494	2.873000	0.98535	0.561000	0.74099	GCG		0.433	SBNO1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467684.1	NM_018183		6	342	0	0	0	0.001168	0	6	342				
DNAH10	196385	broad.mit.edu	37	12	124268652	124268652	+	Silent	SNP	C	C	A	rs547195870	byFrequency	TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr12:124268652C>A	ENST00000409039.3	+	8	1000	c.975C>A	c.(973-975)acC>acA	p.T325T		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	325	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.T325T(1)|p.T143T(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CAGTGTTCACCGAGTTATTCA	0.488																																							uc001uft.3		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(3)|skin(2)|central_nervous_system(1)	6						c.(973-975)ACC>ACA		dynein, axonemal, heavy chain 10							159.0	137.0	144.0					12																	124268652		2203	4300	6503	SO:0001819	synonymous_variant	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124268652C>A	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.975C>A	12.37:g.124268652C>A							p.T325T	NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	8	1000	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		325			Stem (By similarity).		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Silent	SNP	ENST00000409039.3	37	c.975C>A	CCDS9255.2																																																																																				0.488	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			38	64	1	0	2.66277e-13	0.006999	4.12325e-13	38	64				
NCOR2	9612	broad.mit.edu	37	12	124824595	124824595	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr12:124824595C>A	ENST00000405201.1	-	37	5644	c.5644G>T	c.(5644-5646)Ggt>Tgt	p.G1882C	NCOR2_ENST00000397355.1_Missense_Mutation_p.G1873C|NCOR2_ENST00000429285.2_Missense_Mutation_p.G1872C|NCOR2_ENST00000404621.1_Missense_Mutation_p.G1872C|NCOR2_ENST00000356219.3_Missense_Mutation_p.G1889C|NCOR2_ENST00000404121.2_Missense_Mutation_p.G1443C			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	1893					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)	p.G1889C(1)|p.G1882C(1)		breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GTGATGATACCCTTCATGCCT	0.662																																							uc010tay.1		NA																	2	Substitution - Missense(2)		lung(2)	skin(3)|ovary(1)	4						c.(5674-5676)GGT>TGT		nuclear receptor co-repressor 2 isoform 1							86.0	99.0	94.0					12																	124824595		2124	4226	6350	SO:0001583	missense	9612				cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity	g.chr12:124824595C>A	U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"""nuclear receptor co-repressor 2"""			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.5644G>T	12.37:g.124824595C>A	ENSP00000384018:p.Gly1882Cys					NCOR2_uc010taz.1_Missense_Mutation_p.G1876C|NCOR2_uc010tax.1_Missense_Mutation_p.G3C	p.G1892C	NM_006312	NP_006303	Q9Y618	NCOR2_HUMAN		Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)	39	5830	-	all_neural(191;0.0804)|Medulloblastoma(191;0.163)		1893					O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Missense_Mutation	SNP	ENST00000405201.1	37	c.5674G>T	CCDS41858.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.33|13.33	2.204845|2.204845	0.38905|0.38905	.|.	.|.	ENSG00000196498|ENSG00000196498	ENST00000405201;ENST00000404621;ENST00000356219;ENST00000397355;ENST00000447011;ENST00000404121;ENST00000429285|ENST00000440187;ENST00000453428	T;T;T;T;T;T|.	0.19105|.	2.17;2.44;2.17;2.44;2.18;2.44|.	4.18|4.18	4.18|4.18	0.49190|0.49190	.|.	0.117057|0.117057	0.56097|0.56097	D|D	0.000023|0.000023	T|T	0.30417|0.30417	0.0764|0.0764	N|N	0.24115|0.24115	0.695|0.695	0.31694|0.31694	N|N	0.641561|0.641561	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.73380|.	0.98;0.971;0.956|.	T|T	0.32455|0.32455	-0.9906|-0.9906	10|6	0.72032|.	D|.	0.01|.	-30.3459|-30.3459	7.9823|7.9823	0.30192|0.30192	0.0:0.8842:0.0:0.1158|0.0:0.8842:0.0:0.1158	.|.	1873;1882;1893|.	C9J239;C9JFD3;Q9Y618|.	.;.;NCOR2_HUMAN|.	C|V	1882;1872;1889;1873;1881;1443;1872|116;211	ENSP00000384018:G1882C;ENSP00000384202:G1872C;ENSP00000348551:G1889C;ENSP00000380513:G1873C;ENSP00000385618:G1443C;ENSP00000400281:G1872C|.	ENSP00000348551:G1889C|.	G|G	-|-	1|2	0|0	NCOR2|NCOR2	123390548|123390548	1.000000|1.000000	0.71417|0.71417	0.990000|0.990000	0.47175|0.47175	0.855000|0.855000	0.48748|0.48748	2.129000|2.129000	0.42055|0.42055	1.858000|1.858000	0.53909|0.53909	0.491000|0.491000	0.48974|0.48974	GGT|GGG		0.662	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318173.2	NM_006312		33	42	1	0	2.20474e-14	0.003755	3.50972e-14	33	42				
TMEM132D	121256	broad.mit.edu	37	12	130184920	130184920	+	Silent	SNP	G	G	T	rs138159153		TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr12:130184920G>T	ENST00000422113.2	-	2	729	c.403C>A	c.(403-405)Cgg>Agg	p.R135R	RP11-174M13.2_ENST00000544036.1_lincRNA	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	135					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)		p.R135R(1)		NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		ACTTTGTCCCGCAGGATGTGG	0.537																																							uc009zyl.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	14						c.(403-405)CGG>AGG		transmembrane protein 132D precursor							43.0	43.0	43.0					12																	130184920		2203	4300	6503	SO:0001819	synonymous_variant	121256					integral to membrane		g.chr12:130184920G>T	AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 153"""	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.403C>A	12.37:g.130184920G>T							p.R135R	NM_133448	NP_597705	Q14C87	T132D_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)	2	731	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)	135			Extracellular (Potential).		Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Silent	SNP	ENST00000422113.2	37	c.403C>A	CCDS9266.1																																																																																				0.537	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448		20	27	1	0	8.34094e-07	0.008871	1.02089e-06	20	27				
SHISA2	387914	broad.mit.edu	37	13	26621089	26621089	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr13:26621089C>A	ENST00000319420.3	-	2	505	c.450G>T	c.(448-450)caG>caT	p.Q150H		NM_001007538.1	NP_001007539.1	Q6UWI4	SHSA2_HUMAN	shisa family member 2	150					multicellular organismal development (GO:0007275)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)		p.Q150H(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2)|skin(1)	17						CTCGGCTCTGCTGGGGATCCT	0.622																																							uc001uqm.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(448-450)CAG>CAT		shisa homolog 2 precursor							41.0	40.0	40.0					13																	26621089		2203	4300	6503	SO:0001583	missense	387914				multicellular organismal development	endoplasmic reticulum membrane|integral to membrane		g.chr13:26621089C>A		CCDS31951.1	13q12.13	2013-07-31	2013-07-31	2008-04-01	ENSG00000180730	ENSG00000180730		"""Shisa homologs"""	20366	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 13"", ""transmembrane protein 46"", ""shisa homolog 2 (Xenopus laevis)"""	C13orf13, TMEM46			Standard	NM_001007538		Approved	bA398O19.2, PRO28631, WGAR9166, hShisa	uc001uqm.1	Q6UWI4	OTTHUMG00000016612	ENST00000319420.3:c.450G>T	13.37:g.26621089C>A	ENSP00000313079:p.Gln150His						p.Q150H	NM_001007538	NP_001007539	Q6UWI4	SHSA2_HUMAN			2	535	-			150			Cytoplasmic (Potential).		B9EH70|Q5W0G8	Missense_Mutation	SNP	ENST00000319420.3	37	c.450G>T	CCDS31951.1	.	.	.	.	.	.	.	.	.	.	C	12.77	2.036141	0.35893	.	.	ENSG00000180730	ENST00000319420	T	0.45668	0.89	4.64	3.78	0.43462	.	0.131174	0.53938	D	0.000049	T	0.50905	0.1643	L	0.46157	1.445	0.42403	D	0.99257	D	0.56746	0.977	P	0.59288	0.855	T	0.40232	-0.9574	10	0.36615	T	0.2	-11.5694	12.9627	0.58468	0.0:0.8502:0.0:0.1498	.	150	Q6UWI4	SHSA2_HUMAN	H	150	ENSP00000313079:Q150H	ENSP00000313079:Q150H	Q	-	3	2	SHISA2	25519089	0.999000	0.42202	1.000000	0.80357	0.678000	0.39670	0.654000	0.24918	0.404000	0.25506	-1.151000	0.01829	CAG		0.622	SHISA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044239.2	NM_001007538		10	25	1	0	1.58986e-06	0.008291	1.93433e-06	10	25				
FLT1	2321	broad.mit.edu	37	13	28877397	28877397	+	Silent	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr13:28877397G>T	ENST00000282397.4	-	30	4175	c.3924C>A	c.(3922-3924)acC>acA	p.T1308T	FLT1_ENST00000540678.1_Silent_p.T526T|FLT1_ENST00000543394.1_Silent_p.T331T	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	1308					blood vessel morphogenesis (GO:0048514)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic morphogenesis (GO:0048598)|monocyte chemotaxis (GO:0002548)|patterning of blood vessels (GO:0001569)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor receptor-1 signaling pathway (GO:0036323)|vascular endothelial growth factor signaling pathway (GO:0038084)	endosome (GO:0005768)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|placental growth factor-activated receptor activity (GO:0036332)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)|VEGF-A-activated receptor activity (GO:0036326)|VEGF-B-activated receptor activity (GO:0036327)	p.T1308T(1)		NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CGTGGTCGTAGGTGAACCTGC	0.572																																							uc001usb.3		NA																	1	Substitution - coding silent(1)		lung(1)	lung(10)|central_nervous_system(5)|ovary(3)|stomach(2)|skin(2)|urinary_tract(1)|breast(1)	24						c.(3922-3924)ACC>ACA		fms-related tyrosine kinase 1 isoform 1	Sunitinib(DB01268)						99.0	85.0	90.0					13																	28877397		2203	4300	6503	SO:0001819	synonymous_variant	2321				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity	g.chr13:28877397G>T	AF063657	CCDS9330.1, CCDS53860.1, CCDS53861.1, CCDS73556.1	13q12	2014-09-17	2012-11-19		ENSG00000102755	ENSG00000102755	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3763	protein-coding gene	gene with protein product	"""vascular endothelial growth factor receptor 1"", ""vascular permeability factor receptor"""	165070	"""fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor)"""	FLT		2158038	Standard	NM_001159920		Approved	VEGFR1	uc001usb.3	P17948	OTTHUMG00000016648	ENST00000282397.4:c.3924C>A	13.37:g.28877397G>T						FLT1_uc010aap.2_Silent_p.T313T|FLT1_uc010aaq.2_Silent_p.T433T|FLT1_uc001usa.3_Silent_p.T526T	p.T1308T	NM_002019	NP_002010	P17948	VGFR1_HUMAN	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	30	4209	-	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	1308			Cytoplasmic (Potential).		A3E342|A3E344|A8KA71|B0LPF1|B2BF46|B2BF47|B2BF48|B3FR89|B5A923|F5H5L6|O60722|P16057|Q12954	Silent	SNP	ENST00000282397.4	37	c.3924C>A	CCDS9330.1																																																																																				0.572	FLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044322.1			9	101	1	0	4.68919e-08	0.008291	6.03571e-08	9	101				
FRY	10129	broad.mit.edu	37	13	32783010	32783010	+	Missense_Mutation	SNP	A	A	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr13:32783010A>T	ENST00000380250.3	+	32	4535	c.4039A>T	c.(4039-4041)Aca>Tca	p.T1347S		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	1347						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.T1347S(1)		NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		GCGATTCCCCACAACACACCC	0.527																																							uc001utx.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|large_intestine(1)|skin(1)	7						c.(4039-4041)ACA>TCA		furry homolog							65.0	72.0	69.0					13																	32783010		2031	4179	6210	SO:0001583	missense	10129				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane		g.chr13:32783010A>T	AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"""chromosome 13 open reading frame 14"""	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.4039A>T	13.37:g.32783010A>T	ENSP00000369600:p.Thr1347Ser					FRY_uc010tdw.1_RNA	p.T1347S	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)	32	4535	+		Lung SC(185;0.0271)	1347					Q9Y3N6	Missense_Mutation	SNP	ENST00000380250.3	37	c.4039A>T	CCDS41875.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.43|15.43	2.831606|2.831606	0.50845|0.50845	.|.	.|.	ENSG00000073910|ENSG00000073910	ENST00000380257|ENST00000380250	.|T	.|0.23147	.|1.92	5.41|5.41	5.41|5.41	0.78517|0.78517	.|.	.|0.053328	.|0.85682	.|D	.|0.000000	T|T	0.23965|0.23965	0.0580|0.0580	L|L	0.50919|0.50919	1.6|1.6	0.80722|0.80722	D|D	1|1	.|B	.|0.33583	.|0.418	.|B	.|0.32393	.|0.145	T|T	0.03969|0.03969	-1.0988|-1.0988	6|10	0.46703|0.14252	T|T	0.11|0.57	.|.	15.4306|15.4306	0.75092|0.75092	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|1347	.|Q5TBA9	.|FRY_HUMAN	L|S	185|1347	.|ENSP00000369600:T1347S	ENSP00000369607:H185L|ENSP00000369600:T1347S	H|T	+|+	2|1	0|0	FRY|FRY	31681010|31681010	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.956000|0.956000	0.61745|0.61745	9.244000|9.244000	0.95423|0.95423	2.052000|2.052000	0.61016|0.61016	0.454000|0.454000	0.30748|0.30748	CAC|ACA		0.527	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1	NM_023037		10	73	0	0	0	0.008291	0	10	73				
BRCA2	675	broad.mit.edu	37	13	32937491	32937491	+	Missense_Mutation	SNP	A	A	G			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr13:32937491A>G	ENST00000380152.3	+	18	8385	c.8152A>G	c.(8152-8154)Att>Gtt	p.I2718V	BRCA2_ENST00000544455.1_Missense_Mutation_p.I2718V			P51587	BRCA2_HUMAN	breast cancer 2, early onset	2718					brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)	p.I2718V(2)		NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		AAAAGTGGCCATTATTGAACT	0.398			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	uc001uub.1		NA	yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	D|Mis|N|F|S	familial breast/ovarian cancer gene 2			"""L, E"""		breast|ovarian|pancreatic|leukemia  (FANCB|FANCD1)	breast|ovarian|pancreatic		2	Substitution - Missense(2)		lung(2)	ovary(20)|endometrium(8)|lung(7)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|pancreas(3)|skin(2)|upper_aerodigestive_tract(1)|cervix(1)|salivary_gland(1)|liver(1)|kidney(1)	64						c.(8152-8154)ATT>GTT	Direct_reversal_of_damage|Homologous_recombination	breast cancer 2, early onset							144.0	140.0	142.0					13																	32937491		2203	4300	6503	SO:0001583	missense	675	FanconAnemia_type_D1_bi-allelic_BRCA2_mutations|Fanconi_Anemia|Pancreatic_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_BRCA2_type|Hereditary_Prostate_Cancer|Li-Fraumeni_syndrome	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding	g.chr13:32937491A>G	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"""Fanconi anemia, complementation groups"""	1101	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 2"""	600185	"""Fanconi anemia, complementation group D1"""	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.8152A>G	13.37:g.32937491A>G	ENSP00000369497:p.Ile2718Val	TCGA Ovarian(8;0.087)					p.I2718V	NM_000059	NP_000050	P51587	BRCA2_HUMAN		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)	18	8379	+		Lung SC(185;0.0262)	2718					O00183|O15008|Q13879|Q5TBJ7	Missense_Mutation	SNP	ENST00000380152.3	37	c.8152A>G	CCDS9344.1	.	.	.	.	.	.	.	.	.	.	A	3.321	-0.138633	0.06669	.	.	ENSG00000139618	ENST00000380152;ENST00000544455	T;T	0.80738	-1.41;-1.41	5.49	-3.14	0.05250	Nucleic acid-binding, OB-fold-like (1);BRCA2, oligonucleotide/oligosaccharide-binding 1 (1);	0.783751	0.12207	N	0.489705	T	0.49029	0.1533	N	0.03268	-0.37	0.09310	N	1	B	0.10296	0.003	B	0.10450	0.005	T	0.47169	-0.9138	10	0.06494	T	0.89	.	5.662	0.17674	0.2474:0.1121:0.5296:0.111	.	2718	P51587	BRCA2_HUMAN	V	2718	ENSP00000369497:I2718V;ENSP00000439902:I2718V	ENSP00000369497:I2718V	I	+	1	0	BRCA2	31835491	0.000000	0.05858	0.000000	0.03702	0.515000	0.34225	-1.341000	0.02647	-0.464000	0.06963	0.260000	0.18958	ATT		0.398	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	NM_000059		40	219	0	0	0	0.002852	0	40	219				
WBP4	11193	broad.mit.edu	37	13	41636824	41636824	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr13:41636824G>A	ENST00000379487.3	+	2	447	c.47G>A	c.(46-48)tGc>tAc	p.C16Y	WBP4_ENST00000542082.1_Missense_Mutation_p.C16Y	NM_007187.3	NP_009118.1	O75554	WBP4_HUMAN	WW domain binding protein 4	16					mRNA cis splicing, via spliceosome (GO:0045292)	nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spliceosomal complex (GO:0005681)	nucleic acid binding (GO:0003676)|proline-rich region binding (GO:0070064)|zinc ion binding (GO:0008270)	p.C16Y(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|prostate(1)|skin(1)	12		Lung NSC(96;3.55e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;3.11e-09)|Epithelial(112;3.37e-06)|OV - Ovarian serous cystadenocarcinoma(117;8.3e-05)|GBM - Glioblastoma multiforme(144;0.00102)|BRCA - Breast invasive adenocarcinoma(63;0.07)		TGTGATTACTGCAAGTGCTGG	0.368																																							uc001uxt.2		NA																	1	Substitution - Missense(1)		lung(1)	breast(2)|kidney(1)	3						c.(46-48)TGC>TAC		WW domain-containing binding protein 4							123.0	118.0	120.0					13																	41636824		2203	4300	6503	SO:0001583	missense	11193				nuclear mRNA cis splicing, via spliceosome	nuclear speck|spliceosomal complex	nucleic acid binding|proline-rich region binding|zinc ion binding	g.chr13:41636824G>A	AF071185	CCDS9375.1	13q13.3	2012-10-17	2012-10-17		ENSG00000120688	ENSG00000120688			12739	protein-coding gene	gene with protein product	"""formin binding protein 21"""	604981				9724750	Standard	NM_007187		Approved	FBP21, MGC117310	uc001uxt.3	O75554	OTTHUMG00000016784	ENST00000379487.3:c.47G>A	13.37:g.41636824G>A	ENSP00000368801:p.Cys16Tyr					WBP4_uc010tfd.1_Missense_Mutation_p.C16Y	p.C16Y	NM_007187	NP_009118	O75554	WBP4_HUMAN		all cancers(112;3.11e-09)|Epithelial(112;3.37e-06)|OV - Ovarian serous cystadenocarcinoma(117;8.3e-05)|GBM - Glioblastoma multiforme(144;0.00102)|BRCA - Breast invasive adenocarcinoma(63;0.07)	2	160	+		Lung NSC(96;3.55e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)	16			Matrin-type.		B7Z4M2|Q32P29	Missense_Mutation	SNP	ENST00000379487.3	37	c.47G>A	CCDS9375.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.547149	0.86022	.	.	ENSG00000120688	ENST00000379487;ENST00000542082	.	.	.	5.06	5.06	0.68205	Zinc finger, U1-C type (1);Zinc finger, U1-type (1);Zinc finger, C2H2-type matrin (1);	0.000000	0.85682	D	0.000000	D	0.86422	0.5929	M	0.92317	3.295	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.90009	0.4120	9	0.87932	D	0	-14.524	18.4489	0.90696	0.0:0.0:1.0:0.0	.	16;16	B7Z4M2;O75554	.;WBP4_HUMAN	Y	16	.	ENSP00000368801:C16Y	C	+	2	0	WBP4	40534824	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.749000	0.91619	2.347000	0.79759	0.561000	0.74099	TGC		0.368	WBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044655.2	NM_007187		6	112	0	0	0	0.00308	0	6	112				
ZC3H13	23091	broad.mit.edu	37	13	46559724	46559724	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr13:46559724C>A	ENST00000242848.4	-	10	1776	c.1428G>T	c.(1426-1428)atG>atT	p.M476I	ZC3H13_ENST00000282007.3_Missense_Mutation_p.M476I			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	476	Arg/Ser-rich.						metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.M476I(1)		cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		TTGAGTCCCGCATGTCTCTGG	0.527																																					Esophageal Squamous(187;747 2077 11056 31291 44172)	Esophageal Squamous(187;747 2077 11056 31291 44172)	uc010tfw.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)	2						c.(1426-1428)ATG>ATT		zinc finger CCCH-type containing 13							194.0	191.0	192.0					13																	46559724		2203	4300	6503	SO:0001583	missense	23091						nucleic acid binding|zinc ion binding	g.chr13:46559724C>A	AB020660	CCDS9400.1	13q14.11	2012-07-05	2006-05-15	2006-05-15	ENSG00000123200	ENSG00000123200		"""Zinc fingers, CCCH-type domain containing"""	20368	protein-coding gene	gene with protein product			"""KIAA0853"""	KIAA0853		10048485	Standard	XM_005266301		Approved	DKFZp434D1812	uc001vas.1	Q5T200	OTTHUMG00000016863	ENST00000242848.4:c.1428G>T	13.37:g.46559724C>A	ENSP00000242848:p.Met476Ile					ZC3H13_uc001vas.1_Missense_Mutation_p.M476I|ZC3H13_uc001vat.1_Missense_Mutation_p.M476I	p.M476I	NM_015070	NP_055885	Q5T200	ZC3HD_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)	9	1434	-		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	476			Arg/Ser-rich.		A2A323|O94936|Q5T1Z9|Q7Z7J3|Q8NDT6|Q9H0L6	Missense_Mutation	SNP	ENST00000242848.4	37	c.1428G>T		.	.	.	.	.	.	.	.	.	.	C	10.93	1.489812	0.26686	.	.	ENSG00000123200	ENST00000242848;ENST00000282007;ENST00000431251	T;T	0.28666	2.58;1.6	5.82	-2.42	0.06542	.	0.949332	0.08807	N	0.890848	T	0.14313	0.0346	N	0.08118	0	0.58432	D	0.999995	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.11372	-1.0590	10	0.32370	T	0.25	.	8.7547	0.34639	0.3925:0.4538:0.1537:0.0	.	476;476	Q5T200;Q5T200-2	ZC3HD_HUMAN;.	I	476;476;292	ENSP00000242848:M476I;ENSP00000282007:M476I	ENSP00000242848:M476I	M	-	3	0	ZC3H13	45457725	1.000000	0.71417	0.976000	0.42696	0.960000	0.62799	1.281000	0.33214	-0.342000	0.08363	-1.172000	0.01736	ATG		0.527	ZC3H13-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000044789.1	NM_015070		9	273	1	0	3.07112e-06	0.000978	3.68823e-06	9	273				
PCDH8	5100	broad.mit.edu	37	13	53420300	53420300	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr13:53420300C>A	ENST00000377942.3	-	1	2475	c.2272G>T	c.(2272-2274)Ggg>Tgg	p.G758W	PCDH8_ENST00000338862.4_Missense_Mutation_p.G758W	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	758					cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|morphogenesis of embryonic epithelium (GO:0016331)|somitogenesis (GO:0001756)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)	p.G758W(1)		breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		GTGCAGCTCCCGGCCAGCACG	0.701																																					GBM(36;25 841 9273 49207)	GBM(36;25 841 9273 49207)	uc001vhi.2		NA																	1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(2272-2274)GGG>TGG		protocadherin 8 isoform 1 precursor							28.0	38.0	34.0					13																	53420300		2139	4216	6355	SO:0001583	missense	5100				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding	g.chr13:53420300C>A	AF061573	CCDS9438.1, CCDS9439.1	13q21.1	2010-02-22			ENSG00000136099	ENSG00000136099		"""Cadherins / Protocadherins : Non-clustered"""	8660	protein-coding gene	gene with protein product		603580				9787079, 9315676	Standard	NM_002590		Approved	PAPC, ARCADLIN	uc001vhi.3	O95206	OTTHUMG00000016979	ENST00000377942.3:c.2272G>T	13.37:g.53420300C>A	ENSP00000367177:p.Gly758Trp					PCDH8_uc001vhj.2_Missense_Mutation_p.G758W	p.G758W	NM_002590	NP_002581	O95206	PCDH8_HUMAN		GBM - Glioblastoma multiforme(99;2.19e-08)	1	2475	-		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	758			Helical; (Potential).		B4DMV7|Q5TAN1|Q5TAN2|Q8IYE9|Q96SF1	Missense_Mutation	SNP	ENST00000377942.3	37	c.2272G>T	CCDS9438.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.824810	0.90955	.	.	ENSG00000136099	ENST00000377942;ENST00000338862;ENST00000418407;ENST00000448969	T;T	0.55052	0.54;0.57	5.02	4.16	0.48862	.	0.000000	0.45126	D	0.000400	T	0.60766	0.2294	L	0.32530	0.975	0.49687	D	0.999812	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.64054	-0.6497	10	0.72032	D	0.01	.	12.8038	0.57601	0.0:0.921:0.0:0.079	.	758;758	O95206-2;O95206	.;PCDH8_HUMAN	W	758;758;284;601	ENSP00000367177:G758W;ENSP00000341350:G758W	ENSP00000341350:G758W	G	-	1	0	PCDH8	52318301	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.823000	0.69272	2.318000	0.78349	0.655000	0.94253	GGG		0.701	PCDH8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045108.2	NM_002590		37	27	1	0	2.40579e-17	0.00623	4.05729e-17	37	27				
PCDH8	5100	broad.mit.edu	37	13	53420511	53420511	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr13:53420511C>A	ENST00000377942.3	-	1	2264	c.2061G>T	c.(2059-2061)agG>agT	p.R687S	PCDH8_ENST00000338862.4_Missense_Mutation_p.R687S	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	687	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|morphogenesis of embryonic epithelium (GO:0016331)|somitogenesis (GO:0001756)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)	p.R687S(1)		breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		CCAGGAGCGCCCTGAACACGC	0.716																																					GBM(36;25 841 9273 49207)	GBM(36;25 841 9273 49207)	uc001vhi.2		NA																	1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(2059-2061)AGG>AGT		protocadherin 8 isoform 1 precursor							7.0	9.0	9.0					13																	53420511		2083	4165	6248	SO:0001583	missense	5100				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding	g.chr13:53420511C>A	AF061573	CCDS9438.1, CCDS9439.1	13q21.1	2010-02-22			ENSG00000136099	ENSG00000136099		"""Cadherins / Protocadherins : Non-clustered"""	8660	protein-coding gene	gene with protein product		603580				9787079, 9315676	Standard	NM_002590		Approved	PAPC, ARCADLIN	uc001vhi.3	O95206	OTTHUMG00000016979	ENST00000377942.3:c.2061G>T	13.37:g.53420511C>A	ENSP00000367177:p.Arg687Ser					PCDH8_uc001vhj.2_Missense_Mutation_p.R687S	p.R687S	NM_002590	NP_002581	O95206	PCDH8_HUMAN		GBM - Glioblastoma multiforme(99;2.19e-08)	1	2264	-		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	687			Extracellular (Potential).|Cadherin 6.		B4DMV7|Q5TAN1|Q5TAN2|Q8IYE9|Q96SF1	Missense_Mutation	SNP	ENST00000377942.3	37	c.2061G>T	CCDS9438.1	.	.	.	.	.	.	.	.	.	.	C	9.784	1.176210	0.21704	.	.	ENSG00000136099	ENST00000377942;ENST00000338862;ENST00000418407;ENST00000448969	T;T	0.50813	0.73;0.73	4.32	2.53	0.30540	Cadherin (4);Cadherin-like (1);	0.157205	0.28712	N	0.014391	T	0.23370	0.0565	N	0.10837	0.055	0.33355	D	0.571639	B;B	0.11235	0.004;0.001	B;B	0.14023	0.01;0.007	T	0.12889	-1.0530	10	0.30078	T	0.28	.	5.1847	0.15178	0.0:0.5974:0.1515:0.2511	.	687;687	O95206-2;O95206	.;PCDH8_HUMAN	S	687;687;213;530	ENSP00000367177:R687S;ENSP00000341350:R687S	ENSP00000341350:R687S	R	-	3	2	PCDH8	52318512	0.951000	0.32395	0.972000	0.41901	0.270000	0.26580	0.136000	0.15974	1.030000	0.39839	0.655000	0.94253	AGG		0.716	PCDH8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045108.2	NM_002590		12	3	1	0	0.000978159	0.000978	0.00106576	12	3				
SLITRK1	114798	broad.mit.edu	37	13	84455480	84455480	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr13:84455480C>A	ENST00000377084.2	-	1	1048	c.163G>T	c.(163-165)Gcc>Tcc	p.A55S		NM_001281503.1|NM_052910.1	NP_001268432.1|NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	55	LRRNT 1.				adult behavior (GO:0030534)|axonogenesis (GO:0007409)|homeostatic process (GO:0042592)|multicellular organism growth (GO:0035264)	integral component of membrane (GO:0016021)		p.A55S(1)		NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		GAAGTCGGGGCAGTGAAACGC	0.443																																							uc001vlk.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5						c.(163-165)GCC>TCC		slit and trk like 1 protein precursor							83.0	83.0	83.0					13																	84455480		2203	4300	6503	SO:0001583	missense	114798					integral to membrane		g.chr13:84455480C>A	AB067497	CCDS9464.1	13q31.1	2004-01-08	2004-01-08		ENSG00000178235	ENSG00000178235			20297	protein-coding gene	gene with protein product		609678	"""leucine rich repeat containing 12"""	LRRC12		14557068, 12975309	Standard	NM_001281503		Approved	KIAA1910	uc001vlk.3	Q96PX8	OTTHUMG00000017149	ENST00000377084.2:c.163G>T	13.37:g.84455480C>A	ENSP00000366288:p.Ala55Ser						p.A55S	NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN		GBM - Glioblastoma multiforme(99;0.07)	1	1049	-	Medulloblastoma(90;0.18)	Breast(118;0.212)	55			LRRNT.|Extracellular (Potential).		Q5U5I6|Q96SF9	Missense_Mutation	SNP	ENST00000377084.2	37	c.163G>T	CCDS9464.1	.	.	.	.	.	.	.	.	.	.	C	14.29	2.492219	0.44352	.	.	ENSG00000178235	ENST00000377084	T	0.52295	0.67	4.89	4.89	0.63831	.	0.058757	0.64402	D	0.000002	T	0.40839	0.1133	L	0.29908	0.895	0.58432	D	0.999992	B	0.25743	0.133	B	0.28465	0.09	T	0.39231	-0.9624	10	0.72032	D	0.01	-11.1858	16.7944	0.85598	0.0:1.0:0.0:0.0	.	55	Q96PX8	SLIK1_HUMAN	S	55	ENSP00000366288:A55S	ENSP00000366288:A55S	A	-	1	0	SLITRK1	83353481	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	4.777000	0.62361	2.533000	0.85409	0.561000	0.74099	GCC		0.443	SLITRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045396.1	NM_052910		38	43	1	0	1.02591e-13	0.002522	1.60563e-13	38	43				
GPC5	2262	broad.mit.edu	37	13	93518679	93518679	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr13:93518679C>A	ENST00000377067.3	+	8	2078	c.1706C>A	c.(1705-1707)cCc>cAc	p.P569H		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	569					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)		p.P569H(1)		NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				ATGTTACTTCCCGGGATTTGG	0.433																																							uc010tif.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)|upper_aerodigestive_tract(1)	5						c.(1705-1707)CCC>CAC		glypican 5 precursor							367.0	275.0	306.0					13																	93518679		2203	4300	6503	SO:0001583	missense	2262					anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	g.chr13:93518679C>A	AF001462	CCDS9468.1	13q32	2011-08-01			ENSG00000179399	ENSG00000179399		"""Proteoglycans / Cell Surface : Glypicans"""	4453	protein-coding gene	gene with protein product	"""glypican proteoglycan 5"""	602446				9070915, 20304703, 19556317, 15057823	Standard	NM_004466		Approved		uc010tif.2	P78333	OTTHUMG00000017200	ENST00000377067.3:c.1706C>A	13.37:g.93518679C>A	ENSP00000366267:p.Pro569His						p.P569H	NM_004466	NP_004457	P78333	GPC5_HUMAN			8	2072	+	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)	569					B2R726|O60436|Q9BX27	Missense_Mutation	SNP	ENST00000377067.3	37	c.1706C>A	CCDS9468.1	.	.	.	.	.	.	.	.	.	.	C	11.75	1.731144	0.30684	.	.	ENSG00000179399	ENST00000377067	T	0.49432	0.78	5.81	1.66	0.24008	.	0.000000	0.36338	N	0.002647	T	0.40322	0.1112	N	0.08118	0	0.22701	N	0.998838	D	0.76494	0.999	D	0.66716	0.946	T	0.16041	-1.0416	10	0.62326	D	0.03	-17.7933	6.0801	0.19936	0.0:0.475:0.0:0.525	.	569	P78333	GPC5_HUMAN	H	569	ENSP00000366267:P569H	ENSP00000366267:P569H	P	+	2	0	GPC5	92316680	0.512000	0.26186	0.216000	0.23742	0.092000	0.18411	0.803000	0.27083	0.384000	0.24942	0.650000	0.86243	CCC		0.433	GPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045454.1	NM_004466		38	53	1	0	2.05212e-20	0.005524	3.57895e-20	38	53				
DCT	1638	broad.mit.edu	37	13	95095718	95095718	+	Silent	SNP	A	A	G			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr13:95095718A>G	ENST00000377028.5	-	7	1766	c.1353T>C	c.(1351-1353)ctT>ctC	p.L451L	DCT_ENST00000446125.1_Silent_p.L484L	NM_001922.3	NP_001913.2	P40126	TYRP2_HUMAN	dopachrome tautomerase	451					cell development (GO:0048468)|developmental pigmentation (GO:0048066)|epidermis development (GO:0008544)|melanin biosynthetic process from tyrosine (GO:0006583)|positive regulation of neuroblast proliferation (GO:0002052)|ventricular zone neuroblast division (GO:0021847)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)	copper ion binding (GO:0005507)|dopachrome isomerase activity (GO:0004167)|oxidoreductase activity (GO:0016491)	p.L484L(1)|p.L451L(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	50	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)		AGCTGTAGCCAAGTTGGTCTG	0.433																																							uc001vlv.3		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5						c.(1351-1353)CTT>CTC		dopachrome tautomerase isoform 1							125.0	118.0	120.0					13																	95095718		2203	4300	6503	SO:0001819	synonymous_variant	1638				epidermis development|melanin biosynthetic process from tyrosine	cytosol|integral to membrane|melanosome membrane|microsome	copper ion binding|dopachrome isomerase activity|oxidoreductase activity	g.chr13:95095718A>G	D17547	CCDS9470.1, CCDS45060.1	13q32	2012-09-28	2012-09-28		ENSG00000080166	ENSG00000080166	5.3.3.12		2709	protein-coding gene	gene with protein product	"""dopachrome delta-isomerase"""	191275	"""tyrosine-related protein 2"""	TYRP2		8306979	Standard	NM_001922		Approved		uc010afh.3	P40126	OTTHUMG00000017206	ENST00000377028.5:c.1353T>C	13.37:g.95095718A>G						DCT_uc010afh.2_Silent_p.L484L	p.L451L	NM_001922	NP_001913	P40126	TYRP2_HUMAN		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)	7	1780	-	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)	451			Lumenal, melanosome (Potential).		Q09GT4	Silent	SNP	ENST00000377028.5	37	c.1353T>C	CCDS9470.1																																																																																				0.433	DCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045461.3			33	21	0	0	0	0.004878	0	33	21				
NALCN	259232	broad.mit.edu	37	13	101890223	101890223	+	Nonsense_Mutation	SNP	A	A	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr13:101890223A>T	ENST00000251127.6	-	12	1398	c.1317T>A	c.(1315-1317)tgT>tgA	p.C439*	NALCN_ENST00000376196.3_Nonsense_Mutation_p.C439*|NALCN_ENST00000470333.1_5'UTR	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	439					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)	p.C439*(1)		NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TAAATCCCAAACACCATATCT	0.328																																							uc001vox.1		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16						c.(1315-1317)TGT>TGA		voltage gated channel like 1							131.0	139.0	137.0					13																	101890223		2203	4300	6503	SO:0001587	stop_gained	259232					integral to membrane	sodium channel activity|voltage-gated ion channel activity	g.chr13:101890223A>T	AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"""Ion channels / Sodium leak channels, non-selective"""	19082	protein-coding gene	gene with protein product		611549	"""voltage gated channel like 1"""	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.1317T>A	13.37:g.101890223A>T	ENSP00000251127:p.Cys439*					NALCN_uc001voy.2_Nonsense_Mutation_p.C154*|NALCN_uc001voz.2_Nonsense_Mutation_p.C439*|NALCN_uc001vpa.2_Nonsense_Mutation_p.C439*	p.C439*	NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN			12	1506	-	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		439			Helical; Name=S2 of repeat II; (Potential).		Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Nonsense_Mutation	SNP	ENST00000251127.6	37	c.1317T>A	CCDS9498.1	.	.	.	.	.	.	.	.	.	.	A	38	7.024644	0.98010	.	.	ENSG00000102452	ENST00000251127;ENST00000376196	.	.	.	5.24	2.79	0.32731	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.0031	0.30308	0.6928:0.0:0.3072:0.0	.	.	.	.	X	439	.	ENSP00000251127:C439X	C	-	3	2	NALCN	100688224	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	1.311000	0.33562	0.394000	0.25230	0.402000	0.26972	TGT		0.328	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	NM_052867		39	35	0	0	0	0.004878	0	39	35				
KDELC1	79070	broad.mit.edu	37	13	103446052	103446052	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr13:103446052C>A	ENST00000376004.4	-	3	829	c.493G>T	c.(493-495)Gca>Tca	p.A165S	KDELC1_ENST00000460338.1_5'UTR	NM_024089.2	NP_076994.2	Q6UW63	KDEL1_HUMAN	KDEL (Lys-Asp-Glu-Leu) containing 1	165						endoplasmic reticulum lumen (GO:0005788)		p.A165S(1)		central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					GGGAAATGTGCCAGATCTCTC	0.463																																							uc001vpq.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(493-495)GCA>TCA		KDEL (Lys-Asp-Glu-Leu) containing 1 precursor							164.0	159.0	161.0					13																	103446052		2203	4300	6503	SO:0001583	missense	79070					endoplasmic reticulum lumen		g.chr13:103446052C>A	BC001297	CCDS9504.1	13q33	2010-11-18			ENSG00000134901	ENSG00000134901			19350	protein-coding gene	gene with protein product		611613					Standard	NM_024089		Approved	MGC5302, EP58	uc001vpq.4	Q6UW63	OTTHUMG00000017307	ENST00000376004.4:c.493G>T	13.37:g.103446052C>A	ENSP00000365172:p.Ala165Ser					KDELC1_uc001vpr.3_5'UTR	p.A165S	NM_024089	NP_076994	Q6UW63	KDEL1_HUMAN			3	877	-	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)		165					Q53HL3|Q9BVD2	Missense_Mutation	SNP	ENST00000376004.4	37	c.493G>T	CCDS9504.1	.	.	.	.	.	.	.	.	.	.	C	4.874	0.162501	0.09287	.	.	ENSG00000134901	ENST00000376004	T	0.21932	1.98	5.7	2.32	0.28847	.	0.354886	0.33346	N	0.005015	T	0.09905	0.0243	N	0.16130	0.375	0.26776	N	0.969698	B	0.02656	0.0	B	0.09377	0.004	T	0.38265	-0.9669	10	0.08599	T	0.76	.	9.4145	0.38512	0.3915:0.5427:0.0:0.0658	.	165	Q6UW63	KDEL1_HUMAN	S	165	ENSP00000365172:A165S	ENSP00000365172:A165S	A	-	1	0	KDELC1	102244053	1.000000	0.71417	0.981000	0.43875	0.451000	0.32288	1.432000	0.34936	0.093000	0.17368	0.561000	0.74099	GCA		0.463	KDELC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045699.1			80	93	1	0	9.11151e-29	0.00361	1.6839e-28	80	93				
MYO16	23026	broad.mit.edu	37	13	109379843	109379843	+	Missense_Mutation	SNP	A	A	T	rs141525847	byFrequency	TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr13:109379843A>T	ENST00000357550.2	+	3	394	c.353A>T	c.(352-354)aAc>aTc	p.N118I	MYO16_ENST00000251041.5_Missense_Mutation_p.N118I|MYO16_ENST00000356711.2_Missense_Mutation_p.N118I	NM_001198950.1	NP_001185879.1			myosin XVI									p.N118I(1)		NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			AGAGGAGTCAACGTCAACCAC	0.408																																							uc001vqt.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(6)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1)	10						c.(352-354)AAC>ATC		myosin heavy chain Myr 8							209.0	186.0	194.0					13																	109379843		2203	4300	6503	SO:0001583	missense	23026				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity	g.chr13:109379843A>T		CCDS32008.1, CCDS73598.1	13q33.3	2014-06-12			ENSG00000041515	ENSG00000041515		"""Myosins / Myosin superfamily : Class XVI"", ""Ankyrin repeat domain containing"""	29822	protein-coding gene	gene with protein product	"""neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3"", ""protein phosphatase 1, regulatory subunit 107"""	615479				11588169, 17029291, 21946561	Standard	NM_001198950		Approved	MYR8, KIAA0865, Myo16b, NYAP3, PPP1R107	uc001vqt.1	Q9Y6X6	OTTHUMG00000017333	ENST00000357550.2:c.353A>T	13.37:g.109379843A>T	ENSP00000350160:p.Asn118Ile					MYO16_uc010agk.1_Missense_Mutation_p.N140I	p.N118I	NM_015011	NP_055826	Q9Y6X6	MYO16_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)		4	479	+	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		118			ANK 2.			Missense_Mutation	SNP	ENST00000357550.2	37	c.353A>T	CCDS32008.1	.	.	.	.	.	.	.	.	.	.	A	16.36	3.102076	0.56183	.	.	ENSG00000041515	ENST00000356711;ENST00000397258;ENST00000357550;ENST00000251041	T;T;T	0.65916	-0.18;-0.18;-0.18	4.68	4.68	0.58851	Ankyrin repeat-containing domain (4);	0.000000	0.38720	U	0.001594	T	0.76644	0.4016	M	0.76170	2.325	0.80722	D	1	D;D	0.69078	0.984;0.997	P;D	0.68192	0.851;0.956	T	0.78329	-0.2246	9	.	.	.	.	13.6403	0.62246	1.0:0.0:0.0:0.0	.	118;118	Q9Y6X6-2;Q9Y6X6	.;MYO16_HUMAN	I	118	ENSP00000349145:N118I;ENSP00000350160:N118I;ENSP00000251041:N118I	.	N	+	2	0	MYO16	108177844	1.000000	0.71417	0.929000	0.37066	0.608000	0.37181	5.105000	0.64591	1.874000	0.54306	0.379000	0.24179	AAC		0.408	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045746.1	NM_015011		5	140	0	0	0	0.000602	0	5	140				
OR4K13	390433	broad.mit.edu	37	14	20502863	20502863	+	Nonsense_Mutation	SNP	T	T	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr14:20502863T>A	ENST00000315693.2	-	1	56	c.55A>T	c.(55-57)Aaa>Taa	p.K19*	AL359218.1_ENST00000580563.1_RNA	NM_001004714.1	NP_001004714.1	Q8NH42	OR4KD_HUMAN	olfactory receptor, family 4, subfamily K, member 13	19						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.K19*(1)		endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)	24	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		TTTTGAGATTTGGAAAGTCCC	0.383																																							uc010tkz.1		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(2)	2						c.(55-57)AAA>TAA		olfactory receptor, family 4, subfamily K,							53.0	55.0	54.0					14																	20502863		2202	4300	6502	SO:0001587	stop_gained	390433				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20502863T>A		CCDS32028.1	14q11.2	2013-09-23			ENSG00000176253	ENSG00000176253		"""GPCR / Class A : Olfactory receptors"""	15351	protein-coding gene	gene with protein product							Standard	NM_001004714		Approved		uc010tkz.2	Q8NH42	OTTHUMG00000170781	ENST00000315693.2:c.55A>T	14.37:g.20502863T>A	ENSP00000319322:p.Lys19*						p.K19*	NM_001004714	NP_001004714	Q8NH42	OR4KD_HUMAN	Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)	1	55	-	all_cancers(95;0.00108)		19			Extracellular (Potential).		Q6IF13	Nonsense_Mutation	SNP	ENST00000315693.2	37	c.55A>T	CCDS32028.1	.	.	.	.	.	.	.	.	.	.	.	14.32	2.500507	0.44455	.	.	ENSG00000176253	ENST00000315693	.	.	.	3.37	-0.877	0.10621	.	0.000000	0.34411	U	0.003988	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	.	2.0331	0.03534	0.1567:0.0986:0.1617:0.583	.	.	.	.	X	19	.	ENSP00000319322:K19X	K	-	1	0	OR4K13	19572703	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.678000	0.01942	-0.034000	0.13713	-0.867000	0.03001	AAA		0.383	OR4K13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410344.1			18	30	0	0	0	0.008871	0	18	30				
TEP1	7011	broad.mit.edu	37	14	20876106	20876106	+	Nonsense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr14:20876106C>A	ENST00000262715.5	-	2	533	c.493G>T	c.(493-495)Gga>Tga	p.G165*	TEP1_ENST00000556935.1_Nonsense_Mutation_p.G165*	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	165					RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)	p.G165*(1)		NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		AGGTCTAGTCCCTTAGAGAAA	0.488																																							uc001vxe.2		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(5)	5						c.(493-495)GGA>TGA		telomerase-associated protein 1							189.0	186.0	187.0					14																	20876106		2203	4300	6503	SO:0001587	stop_gained	7011				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	g.chr14:20876106C>A		CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"""WD repeat domain containing"""	11726	protein-coding gene	gene with protein product	"""TROVE domain family, member 1"""	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.493G>T	14.37:g.20876106C>A	ENSP00000262715:p.Gly165*					TEP1_uc010tlf.1_RNA|TEP1_uc010tlg.1_Nonsense_Mutation_p.G165*	p.G165*	NM_007110	NP_009041	Q99973	TEP1_HUMAN	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)	2	533	-	all_cancers(95;0.00123)	all_lung(585;0.235)	165					A0AUV9	Nonsense_Mutation	SNP	ENST00000262715.5	37	c.493G>T	CCDS9548.1	.	.	.	.	.	.	.	.	.	.	C	10.98	1.505253	0.26949	.	.	ENSG00000129566	ENST00000262715;ENST00000359243;ENST00000556935;ENST00000556549	.	.	.	4.6	2.48	0.30137	.	0.592256	0.15201	N	0.275009	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	3.0E-4	6.0333	0.19692	0.0:0.7206:0.0:0.2794	.	.	.	.	X	165	.	ENSP00000262715:G165X	G	-	1	0	TEP1	19945946	0.000000	0.05858	0.002000	0.10522	0.034000	0.12701	0.183000	0.16919	0.487000	0.27698	-0.384000	0.06662	GGA		0.488	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110		63	165	1	0	2.60599e-31	0.00361	4.86896e-31	63	165				
ACIN1	22985	broad.mit.edu	37	14	23530581	23530581	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr14:23530581C>A	ENST00000262710.1	-	17	3851	c.3524G>T	c.(3523-3525)cGt>cTt	p.R1175L	ACIN1_ENST00000457657.1_Missense_Mutation_p.R1135L|ACIN1_ENST00000338631.6_Missense_Mutation_p.R448L|ACIN1_ENST00000357481.2_Missense_Mutation_p.R417L|ACIN1_ENST00000397341.3_Missense_Mutation_p.R417L|ACIN1_ENST00000605057.1_Missense_Mutation_p.R1117L|ACIN1_ENST00000555053.1_Missense_Mutation_p.R1162L|ACIN1_ENST00000557515.1_Missense_Mutation_p.R416L	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	1175	Arg/Asp/Glu/Lys-rich.				apoptotic chromosome condensation (GO:0030263)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|erythrocyte differentiation (GO:0030218)|mRNA processing (GO:0006397)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of apoptotic process (GO:0043065)|positive regulation of monocyte differentiation (GO:0045657)|RNA splicing (GO:0008380)	ASAP complex (GO:0061574)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATPase activity (GO:0016887)|enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.R448L(1)|p.R1175L(1)		breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		TGATCGGGAACGGGGCCCTTC	0.577																																							uc001wit.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|large_intestine(1)|skin(1)	4						c.(3523-3525)CGT>CTT		apoptotic chromatin condensation inducer 1							124.0	129.0	127.0					14																	23530581		2203	4300	6503	SO:0001583	missense	22985				apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding	g.chr14:23530581C>A	AB014570	CCDS9587.1, CCDS53887.1, CCDS53888.1, CCDS53889.1, CCDS55905.1	14q11.2	2008-11-25	2004-03-31	2004-04-01	ENSG00000100813	ENSG00000100813			17066	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 152"""	604562	"""apoptotic chromatin condensation inducer in the nucleus"""	ACINUS		9734811, 10490026	Standard	NM_014977		Approved	KIAA0670, fSAP152	uc001wit.4	Q9UKV3	OTTHUMG00000028716	ENST00000262710.1:c.3524G>T	14.37:g.23530581C>A	ENSP00000262710:p.Arg1175Leu					ACIN1_uc001wio.3_RNA|ACIN1_uc001wip.3_Missense_Mutation_p.R417L|ACIN1_uc001wiq.3_Missense_Mutation_p.R417L|ACIN1_uc001wir.3_Missense_Mutation_p.R448L|ACIN1_uc001wis.3_Missense_Mutation_p.R856L|ACIN1_uc010akg.2_Missense_Mutation_p.R1162L	p.R1175L	NM_014977	NP_055792	Q9UKV3	ACINU_HUMAN		GBM - Glioblastoma multiforme(265;0.00816)	17	3852	-	all_cancers(95;1.36e-05)		1175			Arg/Asp/Glu/Lys-rich.		B2RTT4|D3DS45|O75158|Q9UG91|Q9UKV1|Q9UKV2	Missense_Mutation	SNP	ENST00000262710.1	37	c.3524G>T	CCDS9587.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.898027	0.91962	.	.	ENSG00000100813	ENST00000557515;ENST00000338631;ENST00000357481;ENST00000262710;ENST00000457657;ENST00000397341;ENST00000555053	T;T;T;T;T;T;T	0.21191	2.02;2.02;2.02;2.02;2.02;2.02;2.02	4.79	4.79	0.61399	.	0.000000	0.39834	N	0.001246	T	0.35335	0.0928	L	0.39898	1.24	0.58432	D	0.999998	D;D;D;D;D	0.67145	0.996;0.993;0.995;0.988;0.988	D;P;D;P;P	0.70227	0.937;0.867;0.968;0.87;0.87	T	0.01266	-1.1401	10	0.31617	T	0.26	-6.1398	15.2043	0.73165	0.0:1.0:0.0:0.0	.	1162;1175;1135;448;417	G3V3M7;Q9UKV3;E7EQT4;Q9UKV3-2;Q9UKV3-3	.;ACINU_HUMAN;.;.;.	L	416;448;417;1175;1135;417;1162	ENSP00000451138:R416L;ENSP00000345541:R448L;ENSP00000350073:R417L;ENSP00000262710:R1175L;ENSP00000405677:R1135L;ENSP00000380502:R417L;ENSP00000451328:R1162L	ENSP00000262710:R1175L	R	-	2	0	ACIN1	22600421	0.989000	0.36119	0.972000	0.41901	0.863000	0.49368	4.348000	0.59379	2.627000	0.88993	0.563000	0.77884	CGT		0.577	ACIN1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071707.3	NM_014977		23	78	1	0	6.44725e-10	0.002299	8.94042e-10	23	78				
ACIN1	22985	broad.mit.edu	37	14	23531687	23531687	+	Missense_Mutation	SNP	T	T	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr14:23531687T>A	ENST00000262710.1	-	15	3430	c.3103A>T	c.(3103-3105)Aca>Tca	p.T1035S	ACIN1_ENST00000457657.1_Missense_Mutation_p.T995S|ACIN1_ENST00000338631.6_Missense_Mutation_p.T308S|ACIN1_ENST00000357481.2_Missense_Mutation_p.T277S|ACIN1_ENST00000397341.3_Missense_Mutation_p.T277S|ACIN1_ENST00000605057.1_Missense_Mutation_p.T977S|ACIN1_ENST00000555053.1_Missense_Mutation_p.T1022S|ACIN1_ENST00000557515.1_Missense_Mutation_p.T276S	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	1035					apoptotic chromosome condensation (GO:0030263)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|erythrocyte differentiation (GO:0030218)|mRNA processing (GO:0006397)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of apoptotic process (GO:0043065)|positive regulation of monocyte differentiation (GO:0045657)|RNA splicing (GO:0008380)	ASAP complex (GO:0061574)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATPase activity (GO:0016887)|enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.T1035S(1)|p.T308S(1)		breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		AAGGTTCCTGTGCGCCCCAAC	0.478																																							uc001wit.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|large_intestine(1)|skin(1)	4						c.(3103-3105)ACA>TCA		apoptotic chromatin condensation inducer 1							184.0	189.0	187.0					14																	23531687		2203	4300	6503	SO:0001583	missense	22985				apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding	g.chr14:23531687T>A	AB014570	CCDS9587.1, CCDS53887.1, CCDS53888.1, CCDS53889.1, CCDS55905.1	14q11.2	2008-11-25	2004-03-31	2004-04-01	ENSG00000100813	ENSG00000100813			17066	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 152"""	604562	"""apoptotic chromatin condensation inducer in the nucleus"""	ACINUS		9734811, 10490026	Standard	NM_014977		Approved	KIAA0670, fSAP152	uc001wit.4	Q9UKV3	OTTHUMG00000028716	ENST00000262710.1:c.3103A>T	14.37:g.23531687T>A	ENSP00000262710:p.Thr1035Ser					ACIN1_uc001wio.3_RNA|ACIN1_uc001wip.3_Missense_Mutation_p.T277S|ACIN1_uc001wiq.3_Missense_Mutation_p.T277S|ACIN1_uc001wir.3_Missense_Mutation_p.T308S|ACIN1_uc001wis.3_Missense_Mutation_p.T716S|ACIN1_uc010akg.2_Missense_Mutation_p.T1022S	p.T1035S	NM_014977	NP_055792	Q9UKV3	ACINU_HUMAN		GBM - Glioblastoma multiforme(265;0.00816)	15	3431	-	all_cancers(95;1.36e-05)		1035					B2RTT4|D3DS45|O75158|Q9UG91|Q9UKV1|Q9UKV2	Missense_Mutation	SNP	ENST00000262710.1	37	c.3103A>T	CCDS9587.1	.	.	.	.	.	.	.	.	.	.	T	27.6	4.843318	0.91197	.	.	ENSG00000100813	ENST00000557515;ENST00000338631;ENST00000357481;ENST00000262710;ENST00000457657;ENST00000397341;ENST00000555053	T;T;T;T;T;T;T	0.35421	1.31;1.31;1.31;1.31;1.31;1.31;1.31	5.62	5.62	0.85841	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);	0.000000	0.40064	N	0.001184	T	0.64371	0.2592	M	0.90650	3.135	0.80722	D	1	D;D;P;P;B	0.54772	0.96;0.968;0.933;0.473;0.291	P;P;P;B;B	0.62435	0.842;0.902;0.621;0.19;0.143	T	0.70565	-0.4837	10	0.48119	T	0.1	-9.5088	14.8111	0.69996	0.0:0.0:0.0:1.0	.	1022;1035;995;308;277	G3V3M7;Q9UKV3;E7EQT4;Q9UKV3-2;Q9UKV3-3	.;ACINU_HUMAN;.;.;.	S	276;308;277;1035;995;277;1022	ENSP00000451138:T276S;ENSP00000345541:T308S;ENSP00000350073:T277S;ENSP00000262710:T1035S;ENSP00000405677:T995S;ENSP00000380502:T277S;ENSP00000451328:T1022S	ENSP00000262710:T1035S	T	-	1	0	ACIN1	22601527	1.000000	0.71417	0.957000	0.39632	0.899000	0.52679	6.762000	0.74950	2.141000	0.66446	0.460000	0.39030	ACA		0.478	ACIN1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071707.3	NM_014977		45	191	0	0	0	0.00361	0	45	191				
MYH7	4625	broad.mit.edu	37	14	23893161	23893161	+	Silent	SNP	C	C	G			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr14:23893161C>G	ENST00000355349.3	-	23	3039	c.2877G>C	c.(2875-2877)ctG>ctC	p.L959L		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	959					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)	p.L959L(1)		NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TGGCCAGTGTCAGCTCCAGAT	0.537																																							uc001wjx.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(1)	4						c.(2875-2877)CTG>CTC		myosin, heavy chain 7, cardiac muscle, beta							195.0	175.0	182.0					14																	23893161		2203	4300	6503	SO:0001819	synonymous_variant	4625				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr14:23893161C>G	M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"""Myosins / Myosin superfamily : Class II"""	7577	protein-coding gene	gene with protein product		160760	"""myopathy, distal 1"", ""myosin, heavy polypeptide 7, cardiac muscle, beta"""	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.2877G>C	14.37:g.23893161C>G							p.L959L	NM_000257	NP_000248	P12883	MYH7_HUMAN		GBM - Glioblastoma multiforme(265;0.00725)	23	2983	-	all_cancers(95;2.54e-05)		959			Potential.		A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Silent	SNP	ENST00000355349.3	37	c.2877G>C	CCDS9601.1																																																																																				0.537	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257		17	67	0	0	0	0.006122	0	17	67				
LRRC16B	90668	broad.mit.edu	37	14	24538064	24538064	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr14:24538064C>A	ENST00000342740.5	+	38	4025	c.3871C>A	c.(3871-3873)Cag>Aag	p.Q1291K	CPNE6_ENST00000216775.2_5'Flank|CPNE6_ENST00000397016.2_5'Flank|LRRC16B_ENST00000334420.7_Missense_Mutation_p.Q344K|CPNE6_ENST00000537691.1_5'Flank	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	1291						cytoplasm (GO:0005737)		p.Q1291K(1)		breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		CCAGCCTCCCCAGGAGCCAGG	0.647																																							uc001wlj.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(2)|pancreas(1)	5						c.(3871-3873)CAG>AAG		leucine rich repeat containing 16B							16.0	18.0	17.0					14																	24538064		2203	4297	6500	SO:0001583	missense	90668							g.chr14:24538064C>A	AI017934	CCDS32054.1	14q11.2-q12	2010-09-10	2008-02-12	2008-02-12					20272	protein-coding gene	gene with protein product		614716	"""chromosome 14 open reading frame 121"""	C14orf121		19846667	Standard	NM_138360		Approved	BC008134, crml-1, CARMIL3	uc001wlj.2	Q8ND23		ENST00000342740.5:c.3871C>A	14.37:g.24538064C>A	ENSP00000340467:p.Gln1291Lys					LRRC16B_uc001wlk.2_Missense_Mutation_p.Q344K|CPNE6_uc010tnv.1_5'Flank|CPNE6_uc001wlm.2_5'Flank|CPNE6_uc001wll.2_5'Flank	p.Q1291K	NM_138360	NP_612369	Q8ND23	LR16B_HUMAN		GBM - Glioblastoma multiforme(265;0.019)	38	4028	+			1291					Q8TEF7|Q96HS9	Missense_Mutation	SNP	ENST00000342740.5	37	c.3871C>A	CCDS32054.1	.	.	.	.	.	.	.	.	.	.	C	5.896	0.349352	0.11182	.	.	ENSG00000186648	ENST00000342740;ENST00000334420	T;T	0.59083	0.29;0.29	4.56	3.62	0.41486	.	0.187605	0.26311	N	0.025108	T	0.47432	0.1445	N	0.14661	0.345	0.23776	N	0.996879	B;P	0.44090	0.11;0.826	B;P	0.52189	0.038;0.692	T	0.29852	-0.9998	10	0.19590	T	0.45	-21.0235	10.5825	0.45263	0.0:0.8056:0.1943:0.0	.	344;1291	Q8ND23-2;Q8ND23	.;LR16B_HUMAN	K	1291;344	ENSP00000340467:Q1291K;ENSP00000334701:Q344K	ENSP00000334701:Q344K	Q	+	1	0	LRRC16B	23607904	0.825000	0.29262	0.880000	0.34516	0.504000	0.33889	1.394000	0.34509	2.367000	0.80283	0.561000	0.74099	CAG		0.647	LRRC16B-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416527.1	NM_138360		5	13	1	0	8.12818e-05	0.001984	9.14868e-05	5	13				
IPO4	79711	broad.mit.edu	37	14	24655132	24655132	+	Silent	SNP	C	C	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr14:24655132C>T	ENST00000354464.6	-	12	1280	c.1104G>A	c.(1102-1104)caG>caA	p.Q368Q	RP11-468E2.2_ENST00000561419.1_3'UTR	NM_024658.3	NP_078934.3	Q8TEX9	IPO4_HUMAN	importin 4	368					DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|intracellular protein transport (GO:0006886)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|protein complex (GO:0043234)		p.Q368Q(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33				GBM - Glioblastoma multiforme(265;0.0087)		CAGCTTTGCGCTGGTATGGGC	0.602																																							uc001wmv.1		NA																	1	Substitution - coding silent(1)		lung(1)	kidney(1)	1						c.(1102-1104)CAG>CAA		importin 4							57.0	61.0	60.0					14																	24655132		2158	4265	6423	SO:0001819	synonymous_variant	79711				intracellular protein transport	cytoplasm|nucleus	protein binding|protein transporter activity	g.chr14:24655132C>T	AF411122	CCDS9616.1	14q11.2	2003-03-10			ENSG00000196497	ENSG00000196497		"""Importins"""	19426	protein-coding gene	gene with protein product						11823430	Standard	NR_051979		Approved	Imp4, FLJ23338	uc001wmv.1	Q8TEX9	OTTHUMG00000028801	ENST00000354464.6:c.1104G>A	14.37:g.24655132C>T						IPO4_uc001wmt.1_5'Flank|IPO4_uc001wmu.2_Silent_p.Q30Q|IPO4_uc001wmx.1_Silent_p.Q232Q|IPO4_uc001wmy.1_Silent_p.Q232Q|IPO4_uc010tnz.1_RNA|IPO4_uc001wmw.1_RNA|IPO4_uc001wmz.1_Silent_p.Q368Q	p.Q368Q	NM_024658	NP_078934	Q8TEX9	IPO4_HUMAN		GBM - Glioblastoma multiforme(265;0.0087)	12	1235	-			368			HEAT 1.		B2RN95|Q2NL96|Q86TZ9|Q8NCG8|Q96SJ3|Q9BTI4|Q9H5L0	Silent	SNP	ENST00000354464.6	37	c.1104G>A	CCDS9616.1	.	.	.	.	.	.	.	.	.	.	C	5.115	0.206816	0.09704	.	.	ENSG00000196497	ENST00000399536	.	.	.	5.65	2.68	0.31781	.	.	.	.	.	T	0.64091	0.2567	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.65372	-0.6184	5	0.72032	D	0.01	-26.5029	8.6391	0.33966	0.0:0.7329:0.0:0.2671	.	.	.	.	T	46	.	ENSP00000382451:A46T	A	-	1	0	IPO4	23724972	1.000000	0.71417	1.000000	0.80357	0.695000	0.40330	0.924000	0.28777	0.945000	0.37605	0.655000	0.94253	GCG		0.602	IPO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071931.4	NM_024658		5	42	0	0	0	0.00308	0	5	42				
MDGA2	161357	broad.mit.edu	37	14	47566251	47566251	+	Missense_Mutation	SNP	A	A	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr14:47566251A>T	ENST00000399232.2	-	6	1158	c.794T>A	c.(793-795)gTt>gAt	p.V265D	MDGA2_ENST00000439988.3_Missense_Mutation_p.V334D|MDGA2_ENST00000426342.1_Missense_Mutation_p.V36D|MDGA2_ENST00000357362.3_Missense_Mutation_p.V36D	NM_001113498.2	NP_001106970.3	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	265	Ig-like 3.				pattern specification process (GO:0007389)|spinal cord motor neuron differentiation (GO:0021522)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.V36D(2)|p.V334D(1)		breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						TCCTGTTGTAACACATACTAA	0.438																																							uc001wwj.3		NA																	3	Substitution - Missense(3)		lung(3)	ovary(4)|large_intestine(1)|pancreas(1)	6						c.(793-795)GTT>GAT		MAM domain containing 1 isoform 1							126.0	119.0	122.0					14																	47566251		1913	4117	6030	SO:0001583	missense	161357				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane		g.chr14:47566251A>T	AI859192	CCDS41948.1, CCDS45098.1, CCDS45098.2, CCDS45098.3	14q21.2	2013-01-29	2007-04-03	2007-04-03	ENSG00000139915	ENSG00000139915		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19835	protein-coding gene	gene with protein product		611128	"""MAM domain containing 1"""	MAMDC1		15019943	Standard	NM_001113498		Approved		uc001wwj.4	Q7Z553	OTTHUMG00000029429	ENST00000399232.2:c.794T>A	14.37:g.47566251A>T	ENSP00000382178:p.Val265Asp					MDGA2_uc001wwi.3_Missense_Mutation_p.V36D|MDGA2_uc010ani.2_5'UTR	p.V265D	NM_001113498	NP_001106970	Q7Z553	MDGA2_HUMAN			6	990	-			265			Ig-like 3.		F6W3S7|J3KPX6	Missense_Mutation	SNP	ENST00000399232.2	37	c.794T>A		.	.	.	.	.	.	.	.	.	.	A	23.4	4.410665	0.83340	.	.	ENSG00000139915	ENST00000439988;ENST00000426342;ENST00000399232;ENST00000357362	T;T;T;T	0.12039	2.72;2.72;2.72;2.72	5.65	5.65	0.86999	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.46145	U	0.000311	T	0.14227	0.0344	L	0.28274	0.84	0.80722	D	1	P	0.41188	0.741	P	0.46208	0.507	T	0.14671	-1.0464	10	0.14656	T	0.56	.	14.9885	0.71368	1.0:0.0:0.0:0.0	.	265	Q7Z553	MDGA2_HUMAN	D	265;36;334;36	ENSP00000400011:V265D;ENSP00000405456:V36D;ENSP00000382178:V334D;ENSP00000349925:V36D	ENSP00000349925:V36D	V	-	2	0	MDGA2	46636001	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	6.770000	0.74990	2.276000	0.75962	0.528000	0.53228	GTT		0.438	MDGA2-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000073352.5	NM_182830		9	91	0	0	0	0.008291	0	9	91				
SOS2	6655	broad.mit.edu	37	14	50626482	50626482	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr14:50626482C>T	ENST00000216373.5	-	10	1793	c.1519G>A	c.(1519-1521)Gag>Aag	p.E507K	SOS2_ENST00000555794.1_5'UTR|SOS2_ENST00000543680.1_Missense_Mutation_p.E474K	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN	son of sevenless homolog 2 (Drosophila)	507	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	DNA binding (GO:0003677)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.E507K(4)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					TGCTTGTGCTCACAAGTATCT	0.373																																							uc001wxs.3		NA																	4	Substitution - Missense(4)		lung(4)	ovary(2)	2						c.(1519-1521)GAG>AAG		son of sevenless homolog 2							86.0	86.0	86.0					14																	50626482		2203	4300	6503	SO:0001583	missense	6655				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr14:50626482C>T	L13858	CCDS9697.1	14q21	2013-01-10	2001-12-04		ENSG00000100485	ENSG00000100485		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11188	protein-coding gene	gene with protein product		601247	"""son of sevenless (Drosophilia) homolog 2"""			8276400	Standard	NM_006939		Approved		uc001wxs.4	Q07890	OTTHUMG00000140292	ENST00000216373.5:c.1519G>A	14.37:g.50626482C>T	ENSP00000216373:p.Glu507Lys					SOS2_uc010tql.1_Missense_Mutation_p.E474K|SOS2_uc010tqm.1_RNA|SOS2_uc001wxt.2_Missense_Mutation_p.E195K	p.E507K	NM_006939	NP_008870	Q07890	SOS2_HUMAN			10	1617	-	all_epithelial(31;0.000822)|Breast(41;0.0065)		507			PH.		B7ZKT6|D3DSB4|Q15503|Q17RN1	Missense_Mutation	SNP	ENST00000216373.5	37	c.1519G>A	CCDS9697.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.817905	0.90790	.	.	ENSG00000100485	ENST00000216373;ENST00000543680	T;T	0.76186	-1.0;-1.0	5.87	5.87	0.94306	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.047916	0.85682	D	0.000000	D	0.86218	0.5880	M	0.72353	2.195	0.80722	D	1	D;D;D	0.76494	0.999;0.997;0.995	D;D;P	0.70016	0.967;0.917;0.866	D	0.86393	0.1737	10	0.72032	D	0.01	.	20.1991	0.98252	0.0:1.0:0.0:0.0	.	474;537;507	B7ZKT6;Q59G32;Q07890	.;.;SOS2_HUMAN	K	507;474	ENSP00000216373:E507K;ENSP00000445328:E474K	ENSP00000216373:E507K	E	-	1	0	SOS2	49696232	1.000000	0.71417	0.999000	0.59377	0.865000	0.49528	7.391000	0.79828	2.775000	0.95449	0.650000	0.86243	GAG		0.373	SOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276878.2			20	84	0	0	0	0.007413	0	20	84				
GNG2	54331	broad.mit.edu	37	14	52433353	52433353	+	Missense_Mutation	SNP	C	C	T	rs139067662		TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr14:52433353C>T	ENST00000335281.4	+	3	570	c.164C>T	c.(163-165)cCg>cTg	p.P55L	GNG2_ENST00000557376.1_Missense_Mutation_p.P94L|GNG2_ENST00000555472.1_Missense_Mutation_p.P55L|GNG2_ENST00000553299.1_3'UTR|GNG2_ENST00000553432.1_Missense_Mutation_p.P86L|RP11-463J10.3_ENST00000553603.1_RNA|GNG2_ENST00000556766.1_Missense_Mutation_p.P55L|GNG2_ENST00000556752.1_Missense_Mutation_p.P55L|GNG2_ENST00000554736.1_Missense_Mutation_p.P55L	NM_001243774.1	NP_001230703.1	P59768	GBG2_HUMAN	guanine nucleotide binding protein (G protein), gamma 2	55					adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|energy reserve metabolic process (GO:0006112)|platelet activation (GO:0030168)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|membrane (GO:0016020)|plasma membrane (GO:0005886)	G-protein beta-subunit binding (GO:0031681)|signal transducer activity (GO:0004871)	p.P55L(2)		lung(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	5	all_epithelial(31;0.0659)|Breast(41;0.0684)				Halothane(DB01159)	ACCCCTGTTCCGGCTTCAGAA	0.527													c|||	1	0.000199681	0.0	0.0	5008	,	,		17773	0.0		0.001	False		,,,				2504	0.0						uc001wzi.2		NA																	2	Substitution - Missense(2)		upper_aerodigestive_tract(1)|lung(1)		0						c.(163-165)CCG>CTG		guanine nucleotide binding protein (G protein),	Halothane(DB01159)						96.0	103.0	101.0					14																	52433353		2203	4300	6503	SO:0001583	missense	54331				cellular response to glucagon stimulus|energy reserve metabolic process|platelet activation|synaptic transmission	heterotrimeric G-protein complex	protein binding|signal transducer activity	g.chr14:52433353C>T	AK001024	CCDS32082.1	14q21	2008-07-28				ENSG00000186469			4404	protein-coding gene	gene with protein product		606981				10833460	Standard	NM_053064		Approved		uc001wzj.3	P59768		ENST00000335281.4:c.164C>T	14.37:g.52433353C>T	ENSP00000334448:p.Pro55Leu					GNG2_uc001wzh.2_RNA|GNG2_uc010aoc.1_RNA|GNG2_uc001wzj.2_RNA|GNG2_uc001wzk.2_Missense_Mutation_p.P55L	p.P55L	NM_053064	NP_444292	P59768	GBG2_HUMAN			4	693	+	all_epithelial(31;0.0659)|Breast(41;0.0684)		55					Q5JPE2|Q6P9A9	Missense_Mutation	SNP	ENST00000335281.4	37	c.164C>T	CCDS32082.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	22.1	4.248650	0.80024	.	.	ENSG00000186469	ENST00000553432;ENST00000557376;ENST00000335281;ENST00000555472;ENST00000556766;ENST00000554736;ENST00000556752	T;T;T;T;T;T;T	0.23552	1.9;1.9;1.9;1.9;1.9;1.9;1.9	5.03	4.14	0.48551	G-protein gamma domain (5);	0.000000	0.85682	D	0.000000	T	0.49898	0.1584	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.52071	-0.8624	9	0.46703	T	0.11	-6.3716	13.934	0.64015	0.0:0.9251:0.0:0.0749	.	55	P59768	GBG2_HUMAN	L	86;94;55;55;55;55;55	ENSP00000451279:P86L;ENSP00000450758:P94L;ENSP00000334448:P55L;ENSP00000451102:P55L;ENSP00000451231:P55L;ENSP00000452014:P55L;ENSP00000451576:P55L	ENSP00000334448:P55L	P	+	2	0	GNG2	51503103	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	7.772000	0.85439	1.422000	0.47177	0.591000	0.81541	CCG		0.527	GNG2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411585.1			37	99	0	0	0	0.005524	0	37	99				
PELI2	57161	broad.mit.edu	37	14	56645093	56645093	+	Missense_Mutation	SNP	A	A	G			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr14:56645093A>G	ENST00000267460.4	+	2	404	c.118A>G	c.(118-120)Aaa>Gaa	p.K40E		NM_021255.2	NP_067078.1	Q9HAT8	PELI2_HUMAN	pellino E3 ubiquitin protein ligase family member 2	40	FHA; atypical.				innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein phosphorylation (GO:0001934)|protein ubiquitination (GO:0016567)|Toll signaling pathway (GO:0008063)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cytosol (GO:0005829)	ligase activity (GO:0016874)	p.K40E(1)		kidney(6)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	22						AGGACGGAGGAAAAGTAGATT	0.468																																							uc001xch.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(118-120)AAA>GAA		pellino 2							110.0	104.0	106.0					14																	56645093		2203	4300	6503	SO:0001583	missense	57161				innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of protein phosphorylation|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	protein binding	g.chr14:56645093A>G	AF302502	CCDS9726.1	14q21	2012-02-23	2012-02-23		ENSG00000139946	ENSG00000139946		"""Pellino homologs"""	8828	protein-coding gene	gene with protein product		614798	"""pellino (Drosophila) homolog 2"", ""pellino homolog 2 (Drosophila)"""			11306823, 12860405	Standard	XM_006720211		Approved		uc001xch.3	Q9HAT8	OTTHUMG00000152336	ENST00000267460.4:c.118A>G	14.37:g.56645093A>G	ENSP00000267460:p.Lys40Glu						p.K40E	NM_021255	NP_067078	Q9HAT8	PELI2_HUMAN			2	404	+			40					B2RDY5	Missense_Mutation	SNP	ENST00000267460.4	37	c.118A>G	CCDS9726.1	.	.	.	.	.	.	.	.	.	.	A	19.90	3.913265	0.72983	.	.	ENSG00000139946	ENST00000267460	T	0.49139	0.79	5.8	5.8	0.92144	.	0.092743	0.64402	D	0.000001	T	0.49201	0.1543	L	0.45581	1.43	0.50171	D	0.999857	P	0.45348	0.856	P	0.45753	0.492	T	0.52503	-0.8567	10	0.66056	D	0.02	-25.7653	15.1198	0.72434	1.0:0.0:0.0:0.0	.	40	Q9HAT8	PELI2_HUMAN	E	40	ENSP00000267460:K40E	ENSP00000267460:K40E	K	+	1	0	PELI2	55714846	1.000000	0.71417	1.000000	0.80357	0.837000	0.47467	9.085000	0.94083	2.207000	0.71202	0.455000	0.32223	AAA		0.468	PELI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276925.1			13	64	0	0	0	0.003163	0	13	64				
ZBTB25	7597	broad.mit.edu	37	14	64953726	64953726	+	Missense_Mutation	SNP	C	C	A	rs184479549		TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr14:64953726C>A	ENST00000608382.1	-	3	1414	c.1223G>T	c.(1222-1224)cGc>cTc	p.R408L	ZBTB25_ENST00000394715.1_Missense_Mutation_p.R408L|ZBTB25_ENST00000555220.1_Intron|ZBTB25_ENST00000555424.1_Intron	NM_006977.2	NP_008908.2	P24278	ZBT25_HUMAN	zinc finger and BTB domain containing 25	408					gene expression (GO:0010467)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R408L(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(2)|skin(2)	10				all cancers(60;0.00865)|OV - Ovarian serous cystadenocarcinoma(108;0.0102)|BRCA - Breast invasive adenocarcinoma(234;0.0469)		TTGTGACAAGCGAGAACTTTT	0.443																																							uc001xhf.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1222-1224)CGC>CTC		zinc finger protein 46							122.0	115.0	118.0					14																	64953726		2203	4300	6503	SO:0001583	missense	7597					cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr14:64953726C>A	X16576	CCDS9765.1	14q23-q24	2013-01-08	2005-05-22	2005-05-22	ENSG00000089775	ENSG00000089775		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	13112	protein-coding gene	gene with protein product		194541	"""zinc finger protein 46 (KUP)"", ""chromosome 14 open reading frame 51"""	ZNF46, C14orf51			Standard	NM_006977		Approved	KUP	uc001xhf.3	P24278	OTTHUMG00000141310	ENST00000608382.1:c.1223G>T	14.37:g.64953726C>A	ENSP00000476746:p.Arg408Leu					ZBTB25_uc001xhc.2_Intron|ZBTB25_uc001xhg.2_Missense_Mutation_p.R408L	p.R408L	NM_006977	NP_008908	P24278	ZBT25_HUMAN		all cancers(60;0.00865)|OV - Ovarian serous cystadenocarcinoma(108;0.0102)|BRCA - Breast invasive adenocarcinoma(234;0.0469)	3	1406	-			408					B3KUX6|Q8IYH9	Missense_Mutation	SNP	ENST00000608382.1	37	c.1223G>T	CCDS9765.1	.	.	.	.	.	.	.	.	.	.	C	13.21	2.170486	0.38315	.	.	ENSG00000089775	ENST00000261683;ENST00000394715	T;T	0.25250	1.81;1.81	6.17	5.26	0.73747	.	0.421280	0.29932	N	0.010821	T	0.15825	0.0381	N	0.19112	0.55	0.29906	N	0.823942	B	0.12630	0.006	B	0.15052	0.012	T	0.07751	-1.0756	10	0.44086	T	0.13	-4.9886	7.441	0.27183	0.0:0.7167:0.1362:0.1471	.	408	P24278	ZBT25_HUMAN	L	408	ENSP00000261683:R408L;ENSP00000378204:R408L	ENSP00000261683:R408L	R	-	2	0	ZBTB25	64023479	0.984000	0.35163	0.991000	0.47740	0.968000	0.65278	2.017000	0.40981	1.561000	0.49584	0.655000	0.94253	CGC		0.443	ZBTB25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280649.2	NM_006977		36	57	1	0	3.21399e-22	0.004878	5.70261e-22	36	57				
ADCK1	57143	broad.mit.edu	37	14	78397954	78397954	+	Missense_Mutation	SNP	A	A	G			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr14:78397954A>G	ENST00000238561.5	+	10	1399	c.1300A>G	c.(1300-1302)Acc>Gcc	p.T434A	ADCK1_ENST00000556560.1_3'UTR|ADCK1_ENST00000341211.5_Missense_Mutation_p.T366A	NM_020421.3	NP_065154.2	Q86TW2	ADCK1_HUMAN	aarF domain containing kinase 1	441	Protein kinase.					extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.T434A(1)|p.T366A(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(2)	25			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0376)		CATCTTGAAGACCAACGACCT	0.602																																							uc001xui.2		NA																	2	Substitution - Missense(2)		lung(2)	stomach(2)|ovary(1)	3						c.(1300-1302)ACC>GCC		aarF domain containing kinase 1 isoform a							89.0	70.0	76.0					14																	78397954		2203	4300	6503	SO:0001583	missense	57143					extracellular region	ATP binding|protein serine/threonine kinase activity	g.chr14:78397954A>G	AK096919	CCDS9869.1, CCDS45144.1	14q24	2005-10-30							19038	protein-coding gene	gene with protein product						12471243	Standard	NM_020421		Approved	FLJ39600	uc001xui.3	Q86TW2		ENST00000238561.5:c.1300A>G	14.37:g.78397954A>G	ENSP00000238561:p.Thr434Ala					ADCK1_uc001xuj.2_Missense_Mutation_p.T366A|ADCK1_uc001xul.2_Missense_Mutation_p.T141A	p.T434A	NM_020421	NP_065154	Q86TW2	ADCK1_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0376)	10	1399	+			441			Protein kinase.		B3KUD5|Q6PD65|Q9UIE6	Missense_Mutation	SNP	ENST00000238561.5	37	c.1300A>G	CCDS9869.1	.	.	.	.	.	.	.	.	.	.	A	24.5	4.542991	0.86022	.	.	ENSG00000063761	ENST00000238561;ENST00000341211	T;T	0.69435	-0.4;1.01	4.97	4.97	0.65823	.	0.000000	0.85682	D	0.000000	T	0.77260	0.4104	M	0.66506	2.035	0.80722	D	1	D;D;D	0.69078	0.995;0.99;0.997	P;P;D	0.63877	0.831;0.831;0.919	T	0.75249	-0.3384	10	0.26408	T	0.33	-32.4168	14.9624	0.71166	1.0:0.0:0.0:0.0	.	441;366;434	Q86TW2;Q9UIE6;Q86TW2-2	ADCK1_HUMAN;.;.	A	434;366	ENSP00000238561:T434A;ENSP00000339663:T366A	ENSP00000238561:T434A	T	+	1	0	ADCK1	77467707	1.000000	0.71417	1.000000	0.80357	0.846000	0.48090	9.135000	0.94478	1.991000	0.58162	0.454000	0.30748	ACC		0.602	ADCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413864.1	NM_020421		9	22	0	0	0	0.004482	0	9	22				
TTC7B	145567	broad.mit.edu	37	14	91007748	91007748	+	Silent	SNP	G	G	T	rs567044195		TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr14:91007748G>T	ENST00000328459.6	-	20	2617	c.2496C>A	c.(2494-2496)ccC>ccA	p.P832P	TTC7B_ENST00000357056.2_Silent_p.P849P|TTC7B_ENST00000554654.1_5'UTR	NM_001010854.1	NP_001010854.1	Q86TV6	TTC7B_HUMAN	tetratricopeptide repeat domain 7B	832								p.P832P(1)		NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	36		Melanoma(154;0.222)				AGGGCACGGCGGGGCTGCTGG	0.697													G|||	1	0.000199681	0.0008	0.0	5008	,	,		13988	0.0		0.0	False		,,,				2504	0.0						uc001xyp.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(2494-2496)CCC>CCA		tetratricopeptide repeat domain 7B																																				SO:0001819	synonymous_variant	145567						binding	g.chr14:91007748G>T	BC035865	CCDS32140.1	14q32.12	2013-01-11	2004-06-02	2004-06-04		ENSG00000165914		"""Tetratricopeptide (TTC) repeat domain containing"""	19858	protein-coding gene	gene with protein product			"""tetratricopeptide repeat domain 7 like 1"""	TTC7L1			Standard	XM_005267367		Approved		uc001xyp.3	Q86TV6		ENST00000328459.6:c.2496C>A	14.37:g.91007748G>T						TTC7B_uc001xyo.2_Silent_p.P276P|TTC7B_uc010ats.2_RNA	p.P832P	NM_001010854	NP_001010854	Q86TV6	TTC7B_HUMAN			20	2618	-		Melanoma(154;0.222)	832					Q86U24|Q86VT3	Silent	SNP	ENST00000328459.6	37	c.2496C>A	CCDS32140.1	.	.	.	.	.	.	.	.	.	.	G	14.05	2.420884	0.42918	.	.	ENSG00000165914	ENST00000555894;ENST00000557292	.	.	.	5.72	-4.93	0.03066	.	.	.	.	.	T	0.40694	0.1127	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.35001	-0.9806	4	.	.	.	-23.228	3.9551	0.09387	0.1897:0.2964:0.4368:0.0771	.	.	.	.	S	174;260	.	.	R	-	1	0	TTC7B	90077501	0.375000	0.25089	0.161000	0.22692	0.843000	0.47879	-0.368000	0.07543	-1.478000	0.01869	-0.672000	0.03802	CGC		0.697	TTC7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411364.2			8	7	1	0	3.86212e-05	0.008291	4.42498e-05	8	7				
SERPINA9	327657	broad.mit.edu	37	14	94933527	94933527	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr14:94933527G>A	ENST00000380365.3	-	3	899	c.821C>T	c.(820-822)cCt>cTt	p.P274L	SERPINA9_ENST00000298845.7_Missense_Mutation_p.P192L|SERPINA9_ENST00000424550.2_Missense_Mutation_p.P143L|SERPINA9_ENST00000546329.1_Missense_Mutation_p.P256L|RP11-349I1.2_ENST00000536735.1_RNA|SERPINA9_ENST00000448305.2_Missense_Mutation_p.P194L|SERPINA9_ENST00000539349.1_5'Flank|SERPINA9_ENST00000337425.5_Missense_Mutation_p.P292L			Q86WD7	SPA9_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9	274					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|membrane (GO:0016020)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.P292L(2)		NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21		all_cancers(154;0.0691)|all_epithelial(191;0.233)		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)		GCCCTTGCTAGGGAGGACAAA	0.522																																							uc001ydf.2		NA																	2	Substitution - Missense(2)		lung(2)	lung(1)|central_nervous_system(1)	2						c.(874-876)CCT>CTT		serine (or cysteine) proteinase inhibitor, clade							99.0	96.0	97.0					14																	94933527		2027	4197	6224	SO:0001583	missense	327657				regulation of proteolysis	cytoplasm|extracellular region|membrane	serine-type endopeptidase inhibitor activity	g.chr14:94933527G>A	AY185497	CCDS41982.1, CCDS41983.1, CCDS61542.1	14q32.1	2014-02-18	2005-08-18		ENSG00000170054	ENSG00000170054		"""Serine (or cysteine) peptidase inhibitors"""	15995	protein-coding gene	gene with protein product		615677	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9"""			24172014	Standard	NM_175739		Approved	CENTERIN, SERPINA11b, GCET1	uc001ydf.3	Q86WD7	OTTHUMG00000167710	ENST00000380365.3:c.821C>T	14.37:g.94933527G>A	ENSP00000369723:p.Pro274Leu					SERPINA9_uc001yde.2_Missense_Mutation_p.P192L|SERPINA9_uc010avc.2_Missense_Mutation_p.P143L|SERPINA9_uc001ydg.2_Missense_Mutation_p.P256L|SERPINA9_uc001ydh.1_Missense_Mutation_p.P292L|SERPINA9_uc001ydi.1_Missense_Mutation_p.P256L	p.P292L	NM_175739	NP_783866	Q86WD7	SPA9_HUMAN		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)	3	1036	-		all_cancers(154;0.0691)|all_epithelial(191;0.233)	274					B4DVH4|B9ZVX3|Q2T9J2|Q6UWP9|Q86WD4|Q86WD5|Q86WD6|Q86YP6|Q86YP7	Missense_Mutation	SNP	ENST00000380365.3	37	c.875C>T		.	.	.	.	.	.	.	.	.	.	G	16.04	3.010735	0.54361	.	.	ENSG00000170054	ENST00000448305;ENST00000298845;ENST00000424550;ENST00000337425;ENST00000380365;ENST00000546329	D;D;D;D;D;D	0.98329	-4.87;-4.87;-4.87;-4.87;-4.87;-4.87	3.73	3.73	0.42828	Serpin domain (3);	0.000000	0.64402	D	0.000009	D	0.99369	0.9778	H	0.98577	4.27	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.997;1.0;0.997;1.0;0.998	D	0.98185	1.0459	10	0.54805	T	0.06	.	15.6484	0.77073	0.0:0.0:1.0:0.0	.	256;274;194;292;192	Q86WD7-4;Q86WD7;Q86WD7-6;Q86WD7-7;Q86WD7-2	.;SPA9_HUMAN;.;.;.	L	194;192;143;292;274;256	ENSP00000414092:P194L;ENSP00000298845:P192L;ENSP00000409012:P143L;ENSP00000337133:P292L;ENSP00000369723:P274L;ENSP00000445476:P256L	ENSP00000298845:P192L	P	-	2	0	SERPINA9	94003280	1.000000	0.71417	0.923000	0.36655	0.136000	0.21042	7.309000	0.78937	2.107000	0.64212	0.462000	0.41574	CCT		0.522	SERPINA9-008	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395803.2	NM_175739		19	40	0	0	0	0.008871	0	19	40				
DLK1	8788	broad.mit.edu	37	14	101201093	101201093	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr14:101201093C>A	ENST00000341267.4	+	5	1254	c.1012C>A	c.(1012-1014)Cgc>Agc	p.R338S	DLK1_ENST00000331224.6_Missense_Mutation_p.R265S|RP11-566J3.4_ENST00000608876.1_lincRNA	NM_003836.5	NP_003827	P80370	DLK1_HUMAN	delta-like 1 homolog (Drosophila)	338					cell differentiation (GO:0030154)|embryonic skeletal system development (GO:0048706)|multicellular organismal development (GO:0007275)|negative regulation of Notch signaling pathway (GO:0045746)|Notch signaling pathway (GO:0007219)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)	external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)		p.R338S(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(16)|ovary(2)|prostate(1)|skin(1)	29		Melanoma(154;0.155)				GTCCAACCTGCGCTACAACCA	0.572																																							uc001yhs.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)|skin(1)	4						c.(1012-1014)CGC>AGC		delta-like 1 homolog precursor							116.0	101.0	106.0					14																	101201093		2203	4300	6503	SO:0001583	missense	8788				multicellular organismal development	extracellular space|integral to membrane|soluble fraction		g.chr14:101201093C>A	U15979	CCDS9963.1	14q32	2011-12-05	2001-12-03			ENSG00000185559			2907	protein-coding gene	gene with protein product		176290	"""delta-like homolog (Drosophila)"""			8095043, 7925474	Standard	NM_003836		Approved	FA1, pG2, Pref-1, ZOG, Delta1	uc001yhs.4	P80370		ENST00000341267.4:c.1012C>A	14.37:g.101201093C>A	ENSP00000340292:p.Arg338Ser					DLK1_uc001yhu.3_Missense_Mutation_p.R265S	p.R338S	NM_003836	NP_003827	P80370	DLK1_HUMAN			5	1165	+		Melanoma(154;0.155)	338			Cytoplasmic (Potential).		P15803|Q96DW5	Missense_Mutation	SNP	ENST00000341267.4	37	c.1012C>A	CCDS9963.1	.	.	.	.	.	.	.	.	.	.	C	17.68	3.449930	0.63290	.	.	ENSG00000185559	ENST00000341267;ENST00000331224	T;T	0.73363	-0.74;-0.74	4.45	3.45	0.39498	.	0.199961	0.28778	N	0.014176	T	0.72510	0.3469	N	0.24115	0.695	0.80722	D	1	D;D	0.69078	0.997;0.983	D;P	0.75484	0.986;0.694	T	0.66740	-0.5847	10	0.19590	T	0.45	.	9.1303	0.36841	0.4626:0.5374:0.0:0.0	.	265;338	P80370-2;P80370	.;DLK1_HUMAN	S	338;265	ENSP00000340292:R338S;ENSP00000331081:R265S	ENSP00000331081:R265S	R	+	1	0	DLK1	100270846	1.000000	0.71417	1.000000	0.80357	0.813000	0.45954	5.532000	0.67154	2.025000	0.59659	0.313000	0.20887	CGC		0.572	DLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414389.1			17	47	1	0	5.3912e-06	0.006122	6.41421e-06	17	47				
IGHG1	3500	broad.mit.edu	37	14	106208133	106208133	+	RNA	SNP	C	C	G	rs1803800		TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr14:106208133C>G	ENST00000390548.2	-	0	670							P01857	IGHG1_HUMAN	immunoglobulin heavy constant gamma 1 (G1m marker)						complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)										CGGGGCTGCCCTGTAGGGACA	0.642																																							uc010tyt.1		NA																	0					0						c.e3628-1		Parts of antibodies, mostly variable regions.							101.0	84.0	89.0					14																	106208133		1947	4100	6047			8755							g.chr14:106208133C>G	J00228		14q32.33	2012-10-02			ENSG00000211896	ENSG00000211896		"""Immunoglobulins / IGH locus"""	5525	other	immunoglobulin gene		147100					Standard	NG_001019		Approved		uc001yse.3	P01857	OTTHUMG00000152495		14.37:g.106208133C>G						uc001yrs.2_Intron|uc001yrt.2_Intron|uc001yrw.1_Intron|uc001yrx.1_Intron|uc001yrz.1_Intron|uc001yse.2_Splice_Site_p.G90_splice|uc001ysf.2_Splice_Site_p.G90_splice								3628		-									Splice_Site	SNP	ENST00000390548.2	37	c.58985_splice																																																																																					0.642	IGHG1-002	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_candidate_longest	IG_C_gene	IG_C_gene	OTTHUMT00000326504.1	NG_001019		6	146	0	0	0	0.001168	0	6	146				
NPAP1	23742	broad.mit.edu	37	15	24923730	24923730	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr15:24923730G>T	ENST00000329468.2	+	1	3190	c.2716G>T	c.(2716-2718)Ggg>Tgg	p.G906W		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	906					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)		p.G906W(2)									GGCCACTGATGGGCAGCAGAA	0.502																																							uc001ywo.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	8						c.(2716-2718)GGG>TGG		hypothetical protein LOC23742							125.0	133.0	130.0					15																	24923730		2203	4300	6503	SO:0001583	missense	23742				cell differentiation|multicellular organismal development|spermatogenesis			g.chr15:24923730G>T	AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"""chromosome 15 open reading frame 2"""	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.2716G>T	15.37:g.24923730G>T	ENSP00000333735:p.Gly906Trp						p.G906W	NM_018958	NP_061831	Q9NZP6	CO002_HUMAN		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)	1	3190	+		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)	906						Missense_Mutation	SNP	ENST00000329468.2	37	c.2716G>T	CCDS10015.1	.	.	.	.	.	.	.	.	.	.	.	10.73	1.431765	0.25813	.	.	ENSG00000185823	ENST00000329468	T	0.08008	3.14	1.49	1.49	0.22878	.	0.922327	0.08922	N	0.874335	T	0.15522	0.0374	L	0.29908	0.895	0.09310	N	1	D	0.89917	1.0	D	0.77004	0.989	T	0.29305	-1.0016	10	0.66056	D	0.02	.	6.3836	0.21548	0.0:0.0:1.0:0.0	.	906	Q9NZP6	CO002_HUMAN	W	906	ENSP00000333735:G906W	ENSP00000333735:G906W	G	+	1	0	C15orf2	22474823	0.046000	0.20272	0.017000	0.16124	0.545000	0.35147	0.211000	0.17474	1.144000	0.42321	0.313000	0.20887	GGG		0.502	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958		34	46	1	0	8.4185e-14	0.002445	1.32161e-13	34	46				
GABRB3	2562	broad.mit.edu	37	15	26812800	26812800	+	Missense_Mutation	SNP	T	T	C			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr15:26812800T>C	ENST00000311550.5	-	7	874	c.763A>G	c.(763-765)Ata>Gta	p.I255V	GABRB3_ENST00000545868.1_Missense_Mutation_p.I170V|GABRB3_ENST00000400188.3_Missense_Mutation_p.I184V|GABRB3_ENST00000299267.4_Missense_Mutation_p.I255V|GABRB3_ENST00000541819.2_Missense_Mutation_p.I311V	NM_000814.5|NM_001278631.1	NP_000805.1|NP_001265560.1	P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	255					cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|GABA-gated chloride ion channel activity (GO:0022851)	p.I255V(2)|p.I311V(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Fospropofol(DB06716)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ivermectin(DB00602)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Piperazine(DB00592)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	GTTATCAGTATAGAGGGCATA	0.423																																							uc001zaz.2		NA																	3	Substitution - Missense(3)		lung(3)	upper_aerodigestive_tract(1)|ovary(1)|lung(1)|liver(1)|central_nervous_system(1)	5						c.(763-765)ATA>GTA		gamma-aminobutyric acid (GABA) A receptor, beta	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)						132.0	112.0	119.0					15																	26812800		2203	4300	6503	SO:0001583	missense	2562				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr15:26812800T>C		CCDS10018.1, CCDS10019.1, CCDS53920.1, CCDS53921.1	15q12	2012-06-22			ENSG00000166206	ENSG00000166206		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4083	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 3"""	137192					Standard	NM_000814		Approved		uc001zaz.3	P28472	OTTHUMG00000129231	ENST00000311550.5:c.763A>G	15.37:g.26812800T>C	ENSP00000308725:p.Ile255Val					GABRB3_uc010uae.1_Missense_Mutation_p.I170V|GABRB3_uc001zba.2_Missense_Mutation_p.I255V|GABRB3_uc001zbb.2_Missense_Mutation_p.I311V	p.I255V	NM_000814	NP_000805	P28472	GBRB3_HUMAN		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	7	905	-		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)	255			Helical; (Probable).		B7Z2W1|B7Z825|F5H3D2|H7BYV8|Q14352|Q96FM5	Missense_Mutation	SNP	ENST00000311550.5	37	c.763A>G	CCDS10019.1	.	.	.	.	.	.	.	.	.	.	T	10.51	1.370154	0.24771	.	.	ENSG00000166206	ENST00000311550;ENST00000541819;ENST00000299267;ENST00000400188;ENST00000545868	D;D;D;D;D	0.85171	-1.95;-1.95;-1.95;-1.95;-1.95	6.06	6.06	0.98353	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.84014	0.5379	L	0.48642	1.525	0.80722	D	1	B;B;B	0.22480	0.057;0.033;0.07	B;B;B	0.33960	0.06;0.075;0.173	T	0.80308	-0.1437	10	0.44086	T	0.13	.	15.7938	0.78394	0.0:0.0:0.0:1.0	.	311;255;255	F5H7N0;P28472-2;P28472	.;.;GBRB3_HUMAN	V	255;311;255;184;170	ENSP00000308725:I255V;ENSP00000442408:I311V;ENSP00000299267:I255V;ENSP00000383049:I184V;ENSP00000439169:I170V	ENSP00000299267:I255V	I	-	1	0	GABRB3	24363893	1.000000	0.71417	0.809000	0.32408	0.160000	0.22226	7.926000	0.87569	2.322000	0.78497	0.528000	0.53228	ATA		0.423	GABRB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251352.2			19	19	0	0	0	0.008871	0	19	19				
OCA2	4948	broad.mit.edu	37	15	28000591	28000591	+	Silent	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr15:28000591G>T	ENST00000354638.3	-	24	2615	c.2460C>A	c.(2458-2460)tcC>tcA	p.S820S	OCA2_ENST00000353809.5_Silent_p.S796S	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	820					cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|spermatid development (GO:0007286)|tyrosine transport (GO:0015828)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|melanosome membrane (GO:0033162)	L-tyrosine transmembrane transporter activity (GO:0005302)|transporter activity (GO:0005215)	p.S820S(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		CAACAGTGCAGGACACAACCA	0.433									Oculocutaneous Albinism																														uc001zbh.3		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)|breast(1)|pancreas(1)	5						c.(2458-2460)TCC>TCA		oculocutaneous albinism II							160.0	135.0	143.0					15																	28000591		2203	4300	6503	SO:0001819	synonymous_variant	4948	Oculocutaneous_Albinism	Familial Cancer Database		eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding	g.chr15:28000591G>T		CCDS10020.1, CCDS73701.1	15q12	2013-01-08	2008-01-30		ENSG00000104044	ENSG00000104044			8101	protein-coding gene	gene with protein product	"""melanocyte-specific transporter protein"""	611409	"""oculocutaneous albinism II (pink-eye dilution (murine) homolog)"", ""eye color 3 (brown)"", ""eye color 2 (central brown)"", ""oculocutaneous albinism II (pink-eye dilution homolog, mouse)"""	D15S12, P, EYCL3, EYCL2			Standard	NM_000275		Approved	BEY2, EYCL, BEY, BEY1	uc001zbh.4	Q04671	OTTHUMG00000128871	ENST00000354638.3:c.2460C>A	15.37:g.28000591G>T						OCA2_uc010ayv.2_Silent_p.S796S	p.S820S	NM_000275	NP_000266	Q04671	P_HUMAN		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)	24	2570	-		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)	820			Helical; (Potential).		Q15211|Q15212|Q96EN1|Q9UMI5	Silent	SNP	ENST00000354638.3	37	c.2460C>A	CCDS10020.1																																																																																				0.433	OCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250823.1	NM_000275		6	25	1	0	5.18039e-06	0.00308	6.17778e-06	6	25				
RYR3	6263	broad.mit.edu	37	15	34015043	34015043	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr15:34015043G>C	ENST00000389232.4	+	44	6817	c.6747G>C	c.(6745-6747)aaG>aaC	p.K2249N	RYR3_ENST00000415757.3_Missense_Mutation_p.K2249N|Y_RNA_ENST00000363138.1_RNA	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2249	4 X approximate repeats.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)	p.K2249N(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GTGCCATTAAGATCTCTGAGA	0.577																																							uc001zhi.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|central_nervous_system(4)|lung(1)	10						c.(6745-6747)AAG>AAC		ryanodine receptor 3							89.0	94.0	92.0					15																	34015043		1954	4121	6075	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:34015043G>C		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.6747G>C	15.37:g.34015043G>C	ENSP00000373884:p.Lys2249Asn					RYR3_uc010bar.2_Missense_Mutation_p.K2249N	p.K2249N	NM_001036	NP_001027	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	44	6817	+		all_lung(180;7.18e-09)	2249			4 X approximate repeats.|Cytoplasmic (By similarity).		O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.6747G>C	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	G	14.79	2.639106	0.47153	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D;D	0.97906	-4.6;-4.6	4.93	2.98	0.34508	.	0.062020	0.64402	D	0.000005	D	0.96216	0.8766	M	0.79258	2.445	0.45354	D	0.998341	B;B	0.10296	0.0;0.003	B;B	0.08055	0.0;0.003	D	0.94751	0.7927	10	0.62326	D	0.03	.	9.362	0.38201	0.2262:0.0:0.7738:0.0	.	2249;2249	Q15413-2;Q15413	.;RYR3_HUMAN	N	2249	ENSP00000373884:K2249N;ENSP00000399610:K2249N	ENSP00000354735:K2249N	K	+	3	2	RYR3	31802335	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	1.672000	0.37523	1.272000	0.44329	0.555000	0.69702	AAG		0.577	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			43	54	0	0	0	0.003214	0	43	54				
SPRED1	161742	broad.mit.edu	37	15	38591588	38591588	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr15:38591588G>T	ENST00000299084.4	+	2	907	c.47G>T	c.(46-48)cGa>cTa	p.R16L	SPRED1_ENST00000561205.1_3'UTR	NM_152594.2	NP_689807.1	Q7Z699	SPRE1_HUMAN	sprouty-related, EVH1 domain containing 1	16	WH1. {ECO:0000255|PROSITE- ProRule:PRU00410}.				inactivation of MAPK activity (GO:0000188)|multicellular organismal development (GO:0007275)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|regulation of protein deacetylation (GO:0090311)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	phosphatase binding (GO:0019902)|protein kinase binding (GO:0019901)|protein serine/threonine kinase inhibitor activity (GO:0030291)|stem cell factor receptor binding (GO:0005173)	p.R16L(1)		kidney(6)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(109;4.88e-13)|all_epithelial(112;1.83e-11)|Lung NSC(122;2.21e-09)|all_lung(180;4.64e-08)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(113;2.41e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		AGTTATGCACGAGTGCGAGCT	0.438									Legius syndrome																												Melanoma(196;2146 2959 7698 16532)	Melanoma(196;2146 2959 7698 16532)	uc001zka.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(2)|skin(1)	5						c.(46-48)CGA>CTA		sprouty-related protein 1 with EVH-1 domain							105.0	102.0	103.0					15																	38591588		2200	4297	6497	SO:0001583	missense	161742	Legius_syndrome	Familial Cancer Database	Neurofibromatosis type 1 - like syndrome, SPRED1 disorder	inactivation of MAPK activity|multicellular organismal development	caveola|nucleus	stem cell factor receptor binding	g.chr15:38591588G>T	AK091222	CCDS32193.1	15q14	2014-06-13			ENSG00000166068	ENSG00000166068			20249	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 147"""	609291					Standard	NM_152594		Approved	FLJ33903, PPP1R147	uc001zka.4	Q7Z699		ENST00000299084.4:c.47G>T	15.37:g.38591588G>T	ENSP00000299084:p.Arg16Leu						p.R16L	NM_152594	NP_689807	Q7Z699	SPRE1_HUMAN		GBM - Glioblastoma multiforme(113;2.41e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0244)	2	382	+		all_cancers(109;4.88e-13)|all_epithelial(112;1.83e-11)|Lung NSC(122;2.21e-09)|all_lung(180;4.64e-08)|Melanoma(134;0.091)	16			WH1.		B2RPJ8|Q05D53|Q8N256	Missense_Mutation	SNP	ENST00000299084.4	37	c.47G>T	CCDS32193.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.638366	0.87760	.	.	ENSG00000166068	ENST00000299084	T	0.75154	-0.91	5.72	5.72	0.89469	EVH1 (1);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.77837	0.4190	M	0.81497	2.545	0.80722	D	1	P	0.39964	0.697	B	0.38194	0.267	T	0.81506	-0.0902	10	0.72032	D	0.01	-27.9556	18.0673	0.89395	0.0:0.0:1.0:0.0	.	16	Q7Z699	SPRE1_HUMAN	L	16	ENSP00000299084:R16L	ENSP00000299084:R16L	R	+	2	0	SPRED1	36378880	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.864000	0.99589	2.709000	0.92574	0.655000	0.94253	CGA		0.438	SPRED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418217.1			4	55	1	0	0.00909568	0.009096	0.00956356	4	55				
ZSCAN29	146050	broad.mit.edu	37	15	43658617	43658617	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr15:43658617G>C	ENST00000396976.2	-	3	1047	c.913C>G	c.(913-915)Ctc>Gtc	p.L305V	ZSCAN29_ENST00000562072.1_Missense_Mutation_p.L304V|ZSCAN29_ENST00000568898.1_Intron|ZSCAN29_ENST00000396972.1_Intron	NM_152455.3	NP_689668.3	Q8IWY8	ZSC29_HUMAN	zinc finger and SCAN domain containing 29	305					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.L305V(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(7)|skin(2)	24		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.97e-07)		CTCTTCTGGAGACCTTTGAAC	0.562																																							uc001zrk.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(913-915)CTC>GTC		zinc finger protein 690							80.0	87.0	85.0					15																	43658617		2201	4299	6500	SO:0001583	missense	146050				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr15:43658617G>C	AF525399	CCDS10095.2	15q15.3	2013-01-08	2007-03-08	2007-03-08	ENSG00000140265	ENSG00000140265		"""-"", ""Zinc fingers, C2H2-type"""	26673	protein-coding gene	gene with protein product			"""zinc finger protein 690"""	ZNF690		12434312	Standard	NM_152455		Approved	FLJ35867, Zfp690	uc001zrk.1	Q8IWY8	OTTHUMG00000130767	ENST00000396976.2:c.913C>G	15.37:g.43658617G>C	ENSP00000380174:p.Leu305Val					ZSCAN29_uc001zrj.1_Missense_Mutation_p.L185V|ZSCAN29_uc010bdf.1_Missense_Mutation_p.L304V|ZSCAN29_uc001zrl.1_RNA|ZSCAN29_uc010bdg.1_Intron|ZSCAN29_uc001zrm.2_Missense_Mutation_p.L304V	p.L305V	NM_152455	NP_689668	Q8IWY8	ZSC29_HUMAN		GBM - Glioblastoma multiforme(94;8.97e-07)	3	1060	-		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	305					B3KVB9|Q32M75|Q32M76|Q8NA40	Missense_Mutation	SNP	ENST00000396976.2	37	c.913C>G	CCDS10095.2	.	.	.	.	.	.	.	.	.	.	G	19.40	3.820418	0.71028	.	.	ENSG00000140265	ENST00000396976	T	0.61859	0.07	4.74	4.74	0.60224	.	0.000000	0.51477	D	0.000095	T	0.75273	0.3827	M	0.76002	2.32	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.91635	0.999;0.994;0.994	T	0.78484	-0.2186	10	0.72032	D	0.01	-10.1912	15.2649	0.73654	0.0:0.0:1.0:0.0	.	304;305;305	C9K0J8;Q8IWY8-3;Q8IWY8	.;.;ZSC29_HUMAN	V	305	ENSP00000380174:L305V	ENSP00000380174:L305V	L	-	1	0	ZSCAN29	41445909	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.584000	0.67490	2.459000	0.83118	0.655000	0.94253	CTC		0.562	ZSCAN29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253278.1	NM_152455		8	60	0	0	0	0.00308	0	8	60				
SEMA6D	80031	broad.mit.edu	37	15	48052531	48052531	+	Missense_Mutation	SNP	G	G	A	rs201871061		TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr15:48052531G>A	ENST00000316364.5	+	3	579	c.140G>A	c.(139-141)cGc>cAc	p.R47H	SEMA6D_ENST00000389428.3_Missense_Mutation_p.R47H|SEMA6D_ENST00000389432.2_Missense_Mutation_p.R47H|SEMA6D_ENST00000355997.3_Missense_Mutation_p.R47H|SEMA6D_ENST00000389425.3_Missense_Mutation_p.R47H|SEMA6D_ENST00000354744.4_Missense_Mutation_p.R47H|SEMA6D_ENST00000558816.1_Missense_Mutation_p.R47H|SEMA6D_ENST00000537942.1_Missense_Mutation_p.R47H|SEMA6D_ENST00000536845.2_Missense_Mutation_p.R47H|SEMA6D_ENST00000558014.1_Missense_Mutation_p.R47H|SEMA6D_ENST00000389433.2_Missense_Mutation_p.R47H|SEMA6D_ENST00000358066.4_Missense_Mutation_p.R47H	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	47	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|negative regulation of smooth muscle cell migration (GO:0014912)|positive regulation of smooth muscle cell migration (GO:0014911)|ventricular system development (GO:0021591)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.R47H(2)		biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		TTTAGAGGACGCCCTTCAGGC	0.423													G|||	1	0.000199681	0.0	0.0	5008	,	,		18547	0.0		0.001	False		,,,				2504	0.0						uc010bek.2		NA																	2	Substitution - Missense(2)		lung(2)	skin(3)|breast(1)	4						c.(139-141)CGC>CAC		semaphorin 6D isoform 4 precursor							104.0	96.0	98.0					15																	48052531		2198	4297	6495	SO:0001583	missense	80031				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity	g.chr15:48052531G>A	AF389430	CCDS32224.1, CCDS32225.1, CCDS32226.1, CCDS32227.1, CCDS32228.1, CCDS32229.1	15q21.1	2006-09-18				ENSG00000137872		"""Semaphorins"""	16770	protein-coding gene	gene with protein product		609295				12110693, 14977921	Standard	NM_020858		Approved	KIAA1479, FLJ11598	uc001zvy.3	Q8NFY4		ENST00000316364.5:c.140G>A	15.37:g.48052531G>A	ENSP00000324857:p.Arg47His					SEMA6D_uc001zvw.2_Missense_Mutation_p.R47H|SEMA6D_uc001zvx.1_Missense_Mutation_p.R47H|SEMA6D_uc001zvy.2_Missense_Mutation_p.R47H|SEMA6D_uc001zvz.2_Missense_Mutation_p.R47H|SEMA6D_uc001zwa.2_Missense_Mutation_p.R47H|SEMA6D_uc001zwb.2_Missense_Mutation_p.R47H|SEMA6D_uc001zwc.2_Missense_Mutation_p.R47H	p.R47H	NM_153618	NP_705871	Q8NFY4	SEM6D_HUMAN		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)	3	500	+		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)	47			Sema.|Extracellular (Potential).		A6NF10|A6NM95|A6NNK1|A7E2A0|Q8NFY3|Q8NFY5|Q8NFY6|Q8NFY7|Q9P249	Missense_Mutation	SNP	ENST00000316364.5	37	c.140G>A	CCDS32225.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.663464	0.88251	.	.	ENSG00000137872	ENST00000537942;ENST00000536845;ENST00000316364;ENST00000389433;ENST00000389432;ENST00000354744;ENST00000358066;ENST00000389428;ENST00000355997;ENST00000389425	T;T;T;T;T;T;T;T;T;T	0.27256	2.29;2.3;2.3;2.3;2.29;2.29;2.29;2.29;2.23;1.68	5.76	5.76	0.90799	Semaphorin/CD100 antigen (2);	0.000000	0.85682	D	0.000000	T	0.29914	0.0748	N	0.10916	0.065	0.80722	D	1	D;D;D;B;D	0.71674	0.998;0.982;0.998;0.041;0.998	P;B;P;B;P	0.60789	0.879;0.433;0.879;0.008;0.879	T	0.12319	-1.0552	10	0.20519	T	0.43	.	19.9813	0.97326	0.0:0.0:1.0:0.0	.	47;47;47;47;47	Q8NFY4-3;A6NM95;Q8NFY4-4;Q8NFY4;Q8NFY4-2	.;.;.;SEM6D_HUMAN;.	H	47	ENSP00000442040:R47H;ENSP00000446152:R47H;ENSP00000324857:R47H;ENSP00000374084:R47H;ENSP00000374083:R47H;ENSP00000346786:R47H;ENSP00000350770:R47H;ENSP00000374079:R47H;ENSP00000348276:R47H;ENSP00000374076:R47H	ENSP00000324857:R47H	R	+	2	0	SEMA6D	45839823	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	7.581000	0.82535	2.726000	0.93360	0.655000	0.94253	CGC		0.423	SEMA6D-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416868.1	NM_024966		14	28	0	0	0	0.00245	0	14	28				
SEMA6D	80031	broad.mit.edu	37	15	48063041	48063041	+	Missense_Mutation	SNP	C	C	G			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr15:48063041C>G	ENST00000316364.5	+	19	2720	c.2281C>G	c.(2281-2283)Cat>Gat	p.H761D	SEMA6D_ENST00000389428.3_Missense_Mutation_p.H686D|SEMA6D_ENST00000389432.2_Missense_Mutation_p.H718D|SEMA6D_ENST00000355997.3_3'UTR|SEMA6D_ENST00000354744.4_Missense_Mutation_p.H705D|SEMA6D_ENST00000558816.1_3'UTR|SEMA6D_ENST00000537942.1_Missense_Mutation_p.H699D|SEMA6D_ENST00000536845.2_Missense_Mutation_p.H761D|SEMA6D_ENST00000558014.1_Missense_Mutation_p.H699D|SEMA6D_ENST00000389433.2_Missense_Mutation_p.H742D|SEMA6D_ENST00000358066.4_Missense_Mutation_p.H699D	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	761					axon guidance (GO:0007411)|negative regulation of smooth muscle cell migration (GO:0014912)|positive regulation of smooth muscle cell migration (GO:0014911)|ventricular system development (GO:0021591)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.H761D(1)|p.H699D(1)		biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		GGTAATGGACCATCGAGGGCA	0.478																																							uc010bek.2		NA																	2	Substitution - Missense(2)		lung(2)	skin(3)|breast(1)	4						c.(2281-2283)CAT>GAT		semaphorin 6D isoform 4 precursor							68.0	68.0	68.0					15																	48063041		2198	4297	6495	SO:0001583	missense	80031				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity	g.chr15:48063041C>G	AF389430	CCDS32224.1, CCDS32225.1, CCDS32226.1, CCDS32227.1, CCDS32228.1, CCDS32229.1	15q21.1	2006-09-18				ENSG00000137872		"""Semaphorins"""	16770	protein-coding gene	gene with protein product		609295				12110693, 14977921	Standard	NM_020858		Approved	KIAA1479, FLJ11598	uc001zvy.3	Q8NFY4		ENST00000316364.5:c.2281C>G	15.37:g.48063041C>G	ENSP00000324857:p.His761Asp					SEMA6D_uc001zvw.2_Missense_Mutation_p.H699D|SEMA6D_uc001zvy.2_Missense_Mutation_p.H761D|SEMA6D_uc001zvz.2_Missense_Mutation_p.H705D|SEMA6D_uc001zwa.2_3'UTR|SEMA6D_uc001zwb.2_Missense_Mutation_p.H699D|SEMA6D_uc001zwc.2_Missense_Mutation_p.H686D	p.H761D	NM_153618	NP_705871	Q8NFY4	SEM6D_HUMAN		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)	19	2641	+		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)	761			Cytoplasmic (Potential).		A6NF10|A6NM95|A6NNK1|A7E2A0|Q8NFY3|Q8NFY5|Q8NFY6|Q8NFY7|Q9P249	Missense_Mutation	SNP	ENST00000316364.5	37	c.2281C>G	CCDS32225.1	.	.	.	.	.	.	.	.	.	.	C	0.240	-1.014279	0.02095	.	.	ENSG00000137872	ENST00000537942;ENST00000536845;ENST00000316364;ENST00000389433;ENST00000389432;ENST00000354744;ENST00000358066;ENST00000389428	T;T;T;T;T;T;T;T	0.16196	2.36;2.39;2.39;2.36;2.36;2.36;2.36;2.37	5.19	5.19	0.71726	.	0.317893	0.34460	N	0.003945	T	0.07098	0.0180	N	0.02011	-0.69	0.80722	D	1	B;B;B;B	0.12013	0.005;0.001;0.001;0.005	B;B;B;B	0.13407	0.005;0.004;0.001;0.009	T	0.37820	-0.9689	10	0.20519	T	0.43	.	13.8095	0.63253	0.153:0.8469:0.0:0.0	.	686;705;761;699	Q8NFY4-3;Q8NFY4-4;Q8NFY4;Q8NFY4-2	.;.;SEM6D_HUMAN;.	D	699;761;761;742;718;705;699;686	ENSP00000442040:H699D;ENSP00000446152:H761D;ENSP00000324857:H761D;ENSP00000374084:H742D;ENSP00000374083:H718D;ENSP00000346786:H705D;ENSP00000350770:H699D;ENSP00000374079:H686D	ENSP00000324857:H761D	H	+	1	0	SEMA6D	45850333	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.395000	0.59678	2.681000	0.91329	0.655000	0.94253	CAT		0.478	SEMA6D-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416868.1	NM_024966		12	32	0	0	0	0.001855	0	12	32				
SEMA6D	80031	broad.mit.edu	37	15	48063050	48063050	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr15:48063050C>A	ENST00000316364.5	+	19	2729	c.2290C>A	c.(2290-2292)Caa>Aaa	p.Q764K	SEMA6D_ENST00000389428.3_Missense_Mutation_p.Q689K|SEMA6D_ENST00000389432.2_Missense_Mutation_p.Q721K|SEMA6D_ENST00000355997.3_3'UTR|SEMA6D_ENST00000354744.4_Missense_Mutation_p.Q708K|SEMA6D_ENST00000558816.1_3'UTR|SEMA6D_ENST00000537942.1_Missense_Mutation_p.Q702K|SEMA6D_ENST00000536845.2_Missense_Mutation_p.Q764K|SEMA6D_ENST00000558014.1_Missense_Mutation_p.Q702K|SEMA6D_ENST00000389433.2_Missense_Mutation_p.Q745K|SEMA6D_ENST00000358066.4_Missense_Mutation_p.Q702K	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	764					axon guidance (GO:0007411)|negative regulation of smooth muscle cell migration (GO:0014912)|positive regulation of smooth muscle cell migration (GO:0014911)|ventricular system development (GO:0021591)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.Q702K(1)|p.Q764K(1)		biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		CCATCGAGGGCAACCTCCAGA	0.498																																							uc010bek.2		NA																	2	Substitution - Missense(2)		lung(2)	skin(3)|breast(1)	4						c.(2290-2292)CAA>AAA		semaphorin 6D isoform 4 precursor							64.0	65.0	65.0					15																	48063050		2197	4297	6494	SO:0001583	missense	80031				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity	g.chr15:48063050C>A	AF389430	CCDS32224.1, CCDS32225.1, CCDS32226.1, CCDS32227.1, CCDS32228.1, CCDS32229.1	15q21.1	2006-09-18				ENSG00000137872		"""Semaphorins"""	16770	protein-coding gene	gene with protein product		609295				12110693, 14977921	Standard	NM_020858		Approved	KIAA1479, FLJ11598	uc001zvy.3	Q8NFY4		ENST00000316364.5:c.2290C>A	15.37:g.48063050C>A	ENSP00000324857:p.Gln764Lys					SEMA6D_uc001zvw.2_Missense_Mutation_p.Q702K|SEMA6D_uc001zvy.2_Missense_Mutation_p.Q764K|SEMA6D_uc001zvz.2_Missense_Mutation_p.Q708K|SEMA6D_uc001zwa.2_3'UTR|SEMA6D_uc001zwb.2_Missense_Mutation_p.Q702K|SEMA6D_uc001zwc.2_Missense_Mutation_p.Q689K	p.Q764K	NM_153618	NP_705871	Q8NFY4	SEM6D_HUMAN		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)	19	2650	+		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)	764			Cytoplasmic (Potential).		A6NF10|A6NM95|A6NNK1|A7E2A0|Q8NFY3|Q8NFY5|Q8NFY6|Q8NFY7|Q9P249	Missense_Mutation	SNP	ENST00000316364.5	37	c.2290C>A	CCDS32225.1	.	.	.	.	.	.	.	.	.	.	C	16.21	3.058298	0.55325	.	.	ENSG00000137872	ENST00000537942;ENST00000536845;ENST00000316364;ENST00000389433;ENST00000389432;ENST00000354744;ENST00000358066;ENST00000389428	T;T;T;T;T;T;T;T	0.17528	2.27;2.32;2.32;2.31;2.27;2.27;2.27;2.28	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.22859	0.0552	L	0.44542	1.39	0.80722	D	1	P;P;P;P	0.48911	0.916;0.917;0.865;0.916	P;P;P;P	0.49047	0.514;0.583;0.599;0.514	T	0.01666	-1.1300	10	0.08179	T	0.78	.	19.8525	0.96745	0.0:1.0:0.0:0.0	.	689;708;764;702	Q8NFY4-3;Q8NFY4-4;Q8NFY4;Q8NFY4-2	.;.;SEM6D_HUMAN;.	K	702;764;764;745;721;708;702;689	ENSP00000442040:Q702K;ENSP00000446152:Q764K;ENSP00000324857:Q764K;ENSP00000374084:Q745K;ENSP00000374083:Q721K;ENSP00000346786:Q708K;ENSP00000350770:Q702K;ENSP00000374079:Q689K	ENSP00000324857:Q764K	Q	+	1	0	SEMA6D	45850342	1.000000	0.71417	0.998000	0.56505	0.943000	0.58893	7.487000	0.81328	2.681000	0.91329	0.655000	0.94253	CAA		0.498	SEMA6D-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416868.1	NM_024966		16	26	1	0	1.5739e-10	0.004007	2.23406e-10	16	26				
SLC27A2	11001	broad.mit.edu	37	15	50515330	50515330	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr15:50515330G>T	ENST00000267842.5	+	5	1373	c.1141G>T	c.(1141-1143)Gtt>Ttt	p.V381F	SLC27A2_ENST00000544960.1_Missense_Mutation_p.V146F|SLC27A2_ENST00000380902.4_Missense_Mutation_p.V328F|Y_RNA_ENST00000363735.1_RNA	NM_003645.3	NP_003636.2	O14975	S27A2_HUMAN	solute carrier family 27 (fatty acid transporter), member 2	381					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid alpha-oxidation (GO:0001561)|fatty acid beta-oxidation (GO:0006635)|long-chain fatty acid import (GO:0044539)|long-chain fatty acid metabolic process (GO:0001676)|methyl-branched fatty acid metabolic process (GO:0097089)|small molecule metabolic process (GO:0044281)|very long-chain fatty acid catabolic process (GO:0042760)	endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of peroxisomal membrane (GO:0005779)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|fatty acid transporter activity (GO:0015245)|long-chain fatty acid-CoA ligase activity (GO:0004467)|phytanate-CoA ligase activity (GO:0050197)|pristanate-CoA ligase activity (GO:0070251)|receptor binding (GO:0005102)|very long-chain fatty acid-CoA ligase activity (GO:0031957)	p.V381F(1)		NS(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_lung(180;0.00177)		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)		AGTTGGTGCTGTTGGAAGAGT	0.373																																							uc001zxw.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1141-1143)GTT>TTT		solute carrier family 27 (fatty acid							122.0	112.0	115.0					15																	50515330		2196	4295	6491	SO:0001583	missense	11001				bile acid biosynthetic process|fatty acid alpha-oxidation	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity	g.chr15:50515330G>T	D88308	CCDS10133.1, CCDS53943.1	15q21.2	2013-05-22			ENSG00000140284	ENSG00000140284		"""Acyl-CoA synthetase family"", ""Solute carriers"""	10996	protein-coding gene	gene with protein product		603247		FACVL1		9730624	Standard	NM_003645		Approved	FATP2, hFACVL1, VLACS, VLCS, HsT17226, ACSVL1	uc001zxw.3	O14975	OTTHUMG00000131643	ENST00000267842.5:c.1141G>T	15.37:g.50515330G>T	ENSP00000267842:p.Val381Phe					SLC27A2_uc010bes.2_Missense_Mutation_p.V328F|SLC27A2_uc001zxx.2_Missense_Mutation_p.V146F	p.V381F	NM_003645	NP_003636	O14975	S27A2_HUMAN		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)	5	1373	+		all_lung(180;0.00177)	381			Cytoplasmic (Potential).		A8K2J7|Q53FY6|Q6PF09	Missense_Mutation	SNP	ENST00000267842.5	37	c.1141G>T	CCDS10133.1	.	.	.	.	.	.	.	.	.	.	G	13.72	2.322224	0.41096	.	.	ENSG00000140284	ENST00000380902;ENST00000267842;ENST00000544960	T;T;T	0.51071	0.77;0.72;0.72	5.93	-3.53	0.04667	AMP-dependent synthetase/ligase (1);	0.341006	0.29165	N	0.012945	T	0.68686	0.3028	H	0.94462	3.54	0.47778	D	0.999515	P;P	0.45126	0.788;0.851	P;P	0.57548	0.823;0.698	T	0.75491	-0.3299	10	0.87932	D	0	.	12.4709	0.55785	0.5764:0.0:0.4236:0.0	.	328;381	Q6PF09;O14975	.;S27A2_HUMAN	F	328;381;146	ENSP00000370289:V328F;ENSP00000267842:V381F;ENSP00000444549:V146F	ENSP00000267842:V381F	V	+	1	0	SLC27A2	48302622	0.000000	0.05858	0.579000	0.28588	0.074000	0.17049	-0.245000	0.08890	-0.707000	0.05022	-0.794000	0.03295	GTT		0.373	SLC27A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254539.2	NM_003645		4	38	1	0	2.56e-06	0.009096	3.08893e-06	4	38				
UNC13C	440279	broad.mit.edu	37	15	54305103	54305103	+	Start_Codon_SNP	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr15:54305103G>T	ENST00000260323.11	+	1	3	c.3G>T	c.(1-3)atG>atT	p.M1I	UNC13C_ENST00000545554.1_Start_Codon_SNP_p.M1I|UNC13C_ENST00000537900.1_Start_Codon_SNP_p.M1I	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)	p.M1I(2)		breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TGCTCTCCATGGTGGCTAATT	0.358																																							uc002ack.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(5)|pancreas(2)	7						c.(1-3)ATG>ATT		unc-13 homolog C							54.0	54.0	54.0					15																	54305103		1833	4089	5922	SO:0001582	initiator_codon_variant	440279				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr15:54305103G>T	AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.3G>T	15.37:g.54305103G>T	ENSP00000260323:p.Met1Ile						p.M1I	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN		GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)	1	3	+			1					Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	ENST00000260323.11	37	c.3G>T	CCDS45264.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.952657	0.73787	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	T;T;T	0.79940	-1.32;-1.32;-1.32	4.97	3.99	0.46301	.	.	.	.	.	T	0.73102	0.3544	.	.	.	0.80722	D	1	P	0.38922	0.651	B	0.32677	0.15	T	0.78600	-0.2141	8	0.87932	D	0	.	13.8767	0.63657	0.0:0.1534:0.8466:0.0	.	1	Q8NB66	UN13C_HUMAN	I	1	ENSP00000260323:M1I;ENSP00000438156:M1I;ENSP00000442569:M1I	ENSP00000260323:M1I	M	+	3	0	UNC13C	52092395	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.930000	0.87610	2.291000	0.77112	0.655000	0.94253	ATG		0.358	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166	Missense_Mutation	7	30	1	0	0.000157383	0.00308	0.000175596	7	30				
NEDD4	4734	broad.mit.edu	37	15	56142806	56142807	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr15:56142806_56142807CC>AA	ENST00000508342.1	-	10	2836_2837	c.2537_2538GG>TT	c.(2536-2538)tGG>tTT	p.W846F	NEDD4_ENST00000338963.2_Missense_Mutation_p.W774F|NEDD4_ENST00000435532.3_Missense_Mutation_p.W427F|NEDD4_ENST00000506154.1_Missense_Mutation_p.W830F	NM_001284338.1	NP_001271267.1	P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase	846	Mediates interaction with TNIK. {ECO:0000250}.|WW 3. {ECO:0000255|PROSITE- ProRule:PRU00224}.				adaptive immune response (GO:0002250)|blood vessel morphogenesis (GO:0048514)|cellular response to UV (GO:0034644)|cytokine-mediated signaling pathway (GO:0019221)|development involved in symbiotic interaction (GO:0044111)|endocardial cushion development (GO:0003197)|glucocorticoid receptor signaling pathway (GO:0042921)|lysosomal transport (GO:0007041)|negative regulation of sodium ion transport (GO:0010766)|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage (GO:0010768)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|neuromuscular junction development (GO:0007528)|neuron projection development (GO:0031175)|outflow tract morphogenesis (GO:0003151)|positive regulation of nucleocytoplasmic transport (GO:0046824)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein catabolic process (GO:0045732)|progesterone receptor signaling pathway (GO:0050847)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|protein targeting to lysosome (GO:0006622)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|receptor catabolic process (GO:0032801)|receptor internalization (GO:0031623)|regulation of dendrite morphogenesis (GO:0048814)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|regulation of synapse organization (GO:0050807)|response to calcium ion (GO:0051592)|T cell activation (GO:0042110)|transmission of virus (GO:0019089)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	apicolateral plasma membrane (GO:0016327)|cell cortex (GO:0005938)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	beta-2 adrenergic receptor binding (GO:0031698)|ligase activity (GO:0016874)|phosphoserine binding (GO:0050815)|phosphothreonine binding (GO:0050816)|proline-rich region binding (GO:0070064)|protein domain specific binding (GO:0019904)|RNA polymerase binding (GO:0070063)|sodium channel inhibitor activity (GO:0019871)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)	p.W774F(1)|p.W427F(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		GCCGGACTTCCCAGCCTTTAGG	0.47																																							uc002adj.2		NA																	2	Substitution - Missense(2)		lung(2)	skin(2)|ovary(1)|breast(1)	4						c.(2536-2538)TGG>TTT		neural precursor cell expressed, developmentally																																				SO:0001583	missense	4734				development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus	apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex	beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity	g.chr15:56142806_56142807CC>AA	D42055	CCDS10156.1, CCDS45265.1, CCDS61643.1, CCDS61644.1	15q	2012-02-23	2012-02-23		ENSG00000069869	ENSG00000069869			7727	protein-coding gene	gene with protein product	"""receptor-potentiating factor 1"""	602278	"""neural precursor cell expressed, developmentally down-regulated 4"""			9073511, 8649367	Standard	XR_243101		Approved	KIAA0093, MGC176705, NEDD4-1, RPF1	uc002adi.3	P46934	OTTHUMG00000132015	ENST00000508342.1:c.2537_2538delinsAA	15.37:g.56142806_56142807delinsAA	ENSP00000424827:p.Trp846Phe					NEDD4_uc002adl.2_Missense_Mutation_p.W427F|NEDD4_uc002adi.2_Missense_Mutation_p.W774F|NEDD4_uc010ugj.1_Missense_Mutation_p.W830F|NEDD4_uc010bfm.2_Missense_Mutation_p.W829F|NEDD4_uc002adk.2_RNA	p.W846F	NM_198400	NP_006145	P46934	NEDD4_HUMAN		all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)	10	2837_2838	-			846			Mediates interaction with TNIK (By similarity).|WW 3.		A1KY35|A6ND72|A7MD29|B4E2R7|B7ZM59|B7ZM60|B9EGN5|D6RF89	Missense_Mutation	DNP	ENST00000508342.1	37	c.2537_2538GG>TT																																																																																					0.470	NEDD4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000359817.1	NM_198400		62	123	0	0	0	0.004672	0	62	123				
TLN2	83660	broad.mit.edu	37	15	63004131	63004131	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr15:63004131G>T	ENST00000561311.1	+	21	2719	c.2489G>T	c.(2488-2490)cGg>cTg	p.R830L	TLN2_ENST00000306829.6_Missense_Mutation_p.R830L			Q9Y4G6	TLN2_HUMAN	talin 2	830					cell adhesion (GO:0007155)|cell-cell junction assembly (GO:0007043)|cytoskeletal anchoring at plasma membrane (GO:0007016)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.R830L(1)		NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						CGCCAGGCGCGGGTTCTGGCC	0.507																																							uc002alb.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|upper_aerodigestive_tract(2)|lung(2)|breast(2)	11						c.(2488-2490)CGG>CTG		talin 2							49.0	48.0	48.0					15																	63004131		2203	4300	6503	SO:0001583	missense	83660				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton	g.chr15:63004131G>T	AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914			15447	protein-coding gene	gene with protein product		607349				9205841, 11527381	Standard	NM_015059		Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.2489G>T	15.37:g.63004131G>T	ENSP00000453508:p.Arg830Leu						p.R830L	NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN			19	2489	+			830					A6NLB8	Missense_Mutation	SNP	ENST00000561311.1	37	c.2489G>T	CCDS32261.1	.	.	.	.	.	.	.	.	.	.	G	35	5.591268	0.96590	.	.	ENSG00000171914	ENST00000306829	T	0.71698	-0.59	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	D	0.85292	0.5663	M	0.80746	2.51	0.80722	D	1	D	0.76494	0.999	D	0.73708	0.981	D	0.83729	0.0197	10	0.41790	T	0.15	-27.1325	20.2602	0.98440	0.0:0.0:1.0:0.0	.	830	Q9Y4G6	TLN2_HUMAN	L	830	ENSP00000303476:R830L	ENSP00000303476:R830L	R	+	2	0	TLN2	60791423	1.000000	0.71417	1.000000	0.80357	0.838000	0.47535	9.634000	0.98435	2.861000	0.98227	0.655000	0.94253	CGG		0.507	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257878.2			13	24	1	0	1.5842e-08	0.001855	2.06776e-08	13	24				
IGDCC4	57722	broad.mit.edu	37	15	65702613	65702614	+	Nonsense_Mutation	DNP	CC	CC	AA			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr15:65702613_65702614CC>AA	ENST00000352385.2	-	3	674_675	c.465_466GG>TT	c.(463-468)gaGGag>gaTTag	p.155_156EE>D*		NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	155	Ig-like C2-type 2.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.E155_E156>D*(1)		NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						GTCCCGTTCTCCTCCACCGTCT	0.579																																							uc002aou.1		NA																	1	Complex - compound substitution(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(463-468)GAGGAG>GATTAG		immunoglobulin superfamily, DCC subclass, member																																				SO:0001587	stop_gained	57722					integral to membrane|plasma membrane		g.chr15:65702613_65702614CC>AA		CCDS10206.1	15q22.31	2013-02-11			ENSG00000103742	ENSG00000103742		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	13770	protein-coding gene	gene with protein product	"""likely ortholog of mouse neighbor of Punc E11"""						Standard	NM_020962		Approved	NOPE, LOC57722	uc002aou.1	Q8TDY8	OTTHUMG00000133136	ENST00000352385.2:c.465_466delinsAA	15.37:g.65702613_65702614delinsAA	ENSP00000319623:p.E155_E156delinsD*						p.155_156EE>D*	NM_020962	NP_066013	Q8TDY8	IGDC4_HUMAN			3	675_676	-			155_156			Ig-like C2-type 2.|Extracellular (Potential).		Q9HCE4	Nonsense_Mutation	DNP	ENST00000352385.2	37	c.465_466GG>TT	CCDS10206.1																																																																																				0.579	IGDCC4-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000256825.2	NM_020962		9	38	0	0	0	0.004672	0	9	38				
SMAD3	4088	broad.mit.edu	37	15	67457257	67457257	+	Silent	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr15:67457257G>T	ENST00000327367.4	+	2	541	c.231G>T	c.(229-231)gtG>gtT	p.V77V	SMAD3_ENST00000559092.1_Missense_Mutation_p.C59F|SMAD3_ENST00000537194.2_5'Flank|SMAD3_ENST00000540846.2_5'UTR|SMAD3_ENST00000439724.3_Silent_p.V33V	NM_005902.3	NP_005893.1	P84022	SMAD3_HUMAN	SMAD family member 3	77	MH1. {ECO:0000255|PROSITE- ProRule:PRU00438}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097296)|activin receptor signaling pathway (GO:0032924)|cell cycle arrest (GO:0007050)|cell-cell junction organization (GO:0045216)|developmental growth (GO:0048589)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic foregut morphogenesis (GO:0048617)|embryonic pattern specification (GO:0009880)|endoderm development (GO:0007492)|evasion or tolerance of host defenses by virus (GO:0019049)|extrinsic apoptotic signaling pathway (GO:0097191)|gene expression (GO:0010467)|heart looping (GO:0001947)|immune response (GO:0006955)|immune system development (GO:0002520)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|lens fiber cell differentiation (GO:0070306)|liver development (GO:0001889)|mesoderm formation (GO:0001707)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of inflammatory response (GO:0050728)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of osteoblast proliferation (GO:0033689)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of wound healing (GO:0061045)|nodal signaling pathway (GO:0038092)|osteoblast development (GO:0002076)|paraxial mesoderm morphogenesis (GO:0048340)|pericardium development (GO:0060039)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of bone mineralization (GO:0030501)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of gene expression (GO:0010628)|positive regulation of gene expression involved in extracellular matrix organization (GO:1901313)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta3 production (GO:0032916)|primary miRNA processing (GO:0031053)|protein stabilization (GO:0050821)|regulation of binding (GO:0051098)|regulation of epithelial cell proliferation (GO:0050678)|regulation of immune response (GO:0050776)|regulation of striated muscle tissue development (GO:0016202)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein complex assembly (GO:0007183)|somitogenesis (GO:0001756)|T cell activation (GO:0042110)|thyroid gland development (GO:0030878)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transdifferentiation (GO:0060290)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transport (GO:0006810)|ureteric bud development (GO:0001657)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nuclear inner membrane (GO:0005637)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|SMAD protein complex (GO:0071141)|SMAD2-SMAD3 protein complex (GO:0071144)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|bHLH transcription factor binding (GO:0043425)|chromatin DNA binding (GO:0031490)|co-SMAD binding (GO:0070410)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|double-stranded DNA binding (GO:0003690)|enhancer binding (GO:0035326)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity (GO:0030618)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.V77V(1)|p.V33V(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(11)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(7;0.125)		GGTTGCAGGTGTCCCATCGGA	0.617																																							uc002aqj.2		NA																	2	Substitution - coding silent(2)		lung(2)	large_intestine(2)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)	5						c.(229-231)GTG>GTT		mothers against decapentaplegic homolog 3							142.0	156.0	151.0					15																	67457257		2201	4299	6500	SO:0001819	synonymous_variant	4088				activation of caspase activity|cell cycle arrest|cell-cell junction organization|evasion of host defenses by virus|immune response|induction of apoptosis|negative regulation of cell growth|negative regulation of mitotic cell cycle|negative regulation of protein catabolic process|negative regulation of protein phosphorylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|protein stabilization|regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|transport|wound healing	cytosol|nuclear inner membrane|receptor complex	beta-catenin binding|co-SMAD binding|metal ion binding|protein homodimerization activity|protein kinase binding|R-SMAD binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor binding|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|ubiquitin protein ligase binding	g.chr15:67457257G>T	BC050743	CCDS10222.1, CCDS45288.1, CCDS53950.1, CCDS53951.1	15q21-q22	2006-11-06	2006-11-06	2004-05-26	ENSG00000166949	ENSG00000166949		"""SMADs"""	6769	protein-coding gene	gene with protein product		603109	"""MAD, mothers against decapentaplegic homolog 3 (Drosophila)"", ""SMAD, mothers against DPP homolog 3 (Drosophila)"""	MADH3		8774881, 8673135	Standard	NM_001145102		Approved	JV15-2, HsT17436	uc002aqj.3	P84022	OTTHUMG00000133230	ENST00000327367.4:c.231G>T	15.37:g.67457257G>T						SMAD3_uc010ujr.1_5'UTR|SMAD3_uc010ujs.1_Silent_p.V33V|SMAD3_uc010ujt.1_5'Flank	p.V77V	NM_005902	NP_005893	P84022	SMAD3_HUMAN		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(7;0.125)	2	529	+			77			MH1.		A8K4B6|B7Z4Z5|B7Z6M9|B7Z9Q2|F5H383|O09064|O09144|O14510|O35273|Q92940|Q93002|Q9GKR4	Silent	SNP	ENST00000327367.4	37	c.231G>T	CCDS10222.1																																																																																				0.617	SMAD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256967.2	NM_005902		16	203	1	0	7.07596e-05	0.006122	8.00845e-05	16	203				
ITGA11	22801	broad.mit.edu	37	15	68628073	68628073	+	Silent	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr15:68628073G>T	ENST00000315757.7	-	12	1473	c.1387C>A	c.(1387-1389)Cgg>Agg	p.R463R	ITGA11_ENST00000423218.2_Silent_p.R463R	NM_001004439.1	NP_001004439.1	Q9UKX5	ITA11_HUMAN	integrin, alpha 11	463					cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-matrix adhesion (GO:0007160)|collagen-activated signaling pathway (GO:0038065)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|osteoblast differentiation (GO:0001649)|substrate-dependent cell migration (GO:0006929)	focal adhesion (GO:0005925)|integrin alpha11-beta1 complex (GO:0034681)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|collagen receptor activity (GO:0038064)|metal ion binding (GO:0046872)	p.R463R(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52						GTGAGGCTCCGGTTGTTGTGC	0.647																																							uc002ari.2		NA																	1	Substitution - coding silent(1)		lung(1)	kidney(2)|pancreas(1)	3						c.(1387-1389)CGG>AGG		integrin, alpha 11 precursor	Tirofiban(DB00775)						35.0	43.0	40.0					15																	68628073		2079	4200	6279	SO:0001819	synonymous_variant	22801				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity	g.chr15:68628073G>T	AF109681	CCDS45291.1	15q22.3-q23	2010-03-23				ENSG00000137809		"""Integrins"""	6136	protein-coding gene	gene with protein product		604789				10486209	Standard	NM_001004439		Approved	HsT18964	uc002ari.3	Q9UKX5		ENST00000315757.7:c.1387C>A	15.37:g.68628073G>T						ITGA11_uc010bib.2_Silent_p.R463R	p.R463R	NM_001004439	NP_001004439	Q9UKX5	ITA11_HUMAN			12	1474	-			463			FG-GAP 4.|Extracellular (Potential).		J3KQM2|Q8WYI8|Q9UKQ1	Silent	SNP	ENST00000315757.7	37	c.1387C>A	CCDS45291.1																																																																																				0.647	ITGA11-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_012211		3	10	1	0	2.56e-06	0.009096	3.08893e-06	3	10				
TMEM202	338949	broad.mit.edu	37	15	72691081	72691081	+	Nonsense_Mutation	SNP	C	C	T	rs368153584		TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr15:72691081C>T	ENST00000341689.3	+	2	223	c.169C>T	c.(169-171)Cga>Tga	p.R57*	TMEM202_ENST00000567679.1_Intron	NM_001080462.1	NP_001073931.1	A6NGA9	TM202_HUMAN	transmembrane protein 202	57						integral component of membrane (GO:0016021)		p.R57*(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	18						CATCTACATCCGAACGCTCTG	0.517																																							uc002auq.2		NA																	1	Substitution - Nonsense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(169-171)CGA>TGA		transmembrane protein 202		C	stop/ARG	1,4397	2.1+/-5.4	0,1,2198	158.0	112.0	127.0		169	3.5	1.0	15		127	0,8594		0,0,4297	no	stop-gained	TMEM202	NM_001080462.1		0,1,6495	TT,TC,CC		0.0,0.0227,0.0077		57/274	72691081	1,12991	2199	4297	6496	SO:0001587	stop_gained	338949					integral to membrane		g.chr15:72691081C>T		CCDS32287.1	15q24.1	2007-12-18				ENSG00000187806			33733	protein-coding gene	gene with protein product							Standard	NM_001080462		Approved	FLJ27523	uc002auq.3	A6NGA9		ENST00000341689.3:c.169C>T	15.37:g.72691081C>T	ENSP00000340212:p.Arg57*					TMEM202_uc002aur.2_Intron	p.R57*	NM_001080462	NP_001073931	A6NGA9	TM202_HUMAN			2	169	+			57			Helical; (Potential).			Nonsense_Mutation	SNP	ENST00000341689.3	37	c.169C>T	CCDS32287.1	.	.	.	.	.	.	.	.	.	.	C	14.45	2.538865	0.45176	2.27E-4	0.0	ENSG00000187806	ENST00000341689	.	.	.	4.47	3.53	0.40419	.	0.176697	0.27397	N	0.019550	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.117	8.6203	0.33857	0.0:0.8924:0.0:0.1076	.	.	.	.	X	57	.	ENSP00000340212:R57X	R	+	1	2	TMEM202	70478135	1.000000	0.71417	0.997000	0.53966	0.003000	0.03518	2.838000	0.48199	2.320000	0.78422	0.655000	0.94253	CGA		0.517	TMEM202-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435756.1	NM_001080462		7	36	0	0	0	0.00308	0	7	36				
CEMIP	57214	broad.mit.edu	37	15	81181089	81181089	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr15:81181089G>C	ENST00000394685.3	+	9	1335	c.916G>C	c.(916-918)Gag>Cag	p.E306Q	KIAA1199_ENST00000220244.3_Missense_Mutation_p.E306Q|KIAA1199_ENST00000356249.5_Missense_Mutation_p.E306Q			Q8WUJ3	CEMIP_HUMAN		306	Necessary for its endoplasmic reticulum (ER) retention and interaction with HSPA5.				hyaluronan catabolic process (GO:0030214)|positive regulation of cell migration (GO:0030335)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein kinase C activity (GO:1900020)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|sensory perception of sound (GO:0007605)	clathrin-coated vesicle membrane (GO:0030665)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	clathrin heavy chain binding (GO:0032050)|ER retention sequence binding (GO:0046923)|hyaluronic acid binding (GO:0005540)|hyalurononglucosaminidase activity (GO:0004415)	p.E306Q(1)		breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						GTTCCAGACAGAGCATGGCGA	0.473																																							uc002bfw.1		NA																	1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						c.(916-918)GAG>CAG		KIAA1199 precursor							178.0	170.0	173.0					15																	81181089		2203	4300	6503	SO:0001583	missense	57214							g.chr15:81181089G>C																												ENST00000394685.3:c.916G>C	15.37:g.81181089G>C	ENSP00000378177:p.Glu306Gln					KIAA1199_uc010unn.1_Missense_Mutation_p.E306Q	p.E306Q	NM_018689	NP_061159	Q8WUJ3	K1199_HUMAN			8	1176	+			306					Q6L9J5|Q9H1K5|Q9NPN9|Q9ULM1	Missense_Mutation	SNP	ENST00000394685.3	37	c.916G>C	CCDS10315.1	.	.	.	.	.	.	.	.	.	.	G	12.48	1.949840	0.34377	.	.	ENSG00000103888	ENST00000220244;ENST00000394685;ENST00000356249;ENST00000394683	T;T;T	0.45668	0.89;0.89;0.89	4.87	3.92	0.45320	.	0.071103	0.56097	D	0.000026	T	0.36826	0.0981	L	0.44542	1.39	0.38971	D	0.958741	P	0.46706	0.883	B	0.42188	0.379	T	0.25572	-1.0128	10	0.27082	T	0.32	-47.7579	15.3626	0.74492	0.0:0.1392:0.8608:0.0	.	306	Q8WUJ3	K1199_HUMAN	Q	306	ENSP00000220244:E306Q;ENSP00000378177:E306Q;ENSP00000348583:E306Q	ENSP00000220244:E306Q	E	+	1	0	KIAA1199	78968144	1.000000	0.71417	0.947000	0.38551	0.022000	0.10575	4.083000	0.57643	2.531000	0.85337	0.557000	0.71058	GAG		0.473	KIAA1199-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291389.1			10	122	0	0	0	0.001855	0	10	122				
IL16	3603	broad.mit.edu	37	15	81584983	81584983	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr15:81584983G>T	ENST00000302987.4	+	11	1507	c.1507G>T	c.(1507-1509)Gct>Tct	p.A503S	IL16_ENST00000394660.2_Missense_Mutation_p.A503S			Q14005	IL16_HUMAN	interleukin 16	503					immune response (GO:0006955)|induction of positive chemotaxis (GO:0050930)|leukocyte chemotaxis (GO:0030595)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.A503S(2)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						GCATCGCAGGGCTCAGAAGGT	0.602																																							uc002bgh.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|lung(1)|skin(1)	4						c.(1507-1509)GCT>TCT		interleukin 16 isoform 2							53.0	60.0	58.0					15																	81584983		2047	4206	6253	SO:0001583	missense	3603				immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity	g.chr15:81584983G>T	U82972	CCDS10317.1, CCDS42069.1, CCDS53966.1	15q26.3	2011-07-14	2011-07-14		ENSG00000172349	ENSG00000172349		"""Interleukins and interleukin receptors"""	5980	protein-coding gene	gene with protein product	"""prointerleukin 16"", ""lymphocyte chemoattractant factor"""	603035	"""interleukin 16 (lymphocyte chemoattractant factor)"""			9144227	Standard	NM_004513		Approved	LCF, IL-16, prIL-16, HsT19289, FLJ42735, FLJ16806	uc021ssh.1	Q14005	OTTHUMG00000144186	ENST00000302987.4:c.1507G>T	15.37:g.81584983G>T	ENSP00000302935:p.Ala503Ser					IL16_uc002bgc.2_RNA|IL16_uc010blq.1_Missense_Mutation_p.A503S|IL16_uc002bge.3_RNA|IL16_uc010unp.1_Missense_Mutation_p.A545S|IL16_uc002bgg.2_Missense_Mutation_p.A503S|IL16_uc002bgi.1_5'UTR|IL16_uc002bgj.2_5'UTR|IL16_uc002bgk.2_5'Flank	p.A503S	NM_172217	NP_757366	Q14005	IL16_HUMAN			12	1883	+			503					A6NM20|A8MU65|B5TY35|B9EGR6|H3BVH5|Q16435|Q6VVE6|Q6ZMQ7|Q9UP18	Missense_Mutation	SNP	ENST00000302987.4	37	c.1507G>T	CCDS42069.1	.	.	.	.	.	.	.	.	.	.	G	8.574	0.880678	0.17467	.	.	ENSG00000172349	ENST00000394660;ENST00000355368;ENST00000302987;ENST00000329842	T;T	0.09630	2.96;2.96	4.63	2.49	0.30216	.	0.161264	0.29459	N	0.012092	T	0.10423	0.0255	L	0.50919	1.6	0.21897	N	0.999483	B;B;B	0.23891	0.056;0.056;0.093	B;B;B	0.25140	0.026;0.026;0.058	T	0.25779	-1.0122	10	0.21014	T	0.42	.	10.8691	0.46872	0.0:0.1156:0.6824:0.202	.	40;503;503	B7Z8M3;Q14005;Q14005-2	.;IL16_HUMAN;.	S	503;335;503;40	ENSP00000378155:A503S;ENSP00000302935:A503S	ENSP00000302935:A503S	A	+	1	0	IL16	79372038	0.663000	0.27448	0.937000	0.37676	0.515000	0.34225	0.788000	0.26872	1.100000	0.41517	0.561000	0.74099	GCT		0.602	IL16-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000303952.1	NM_172217		13	31	1	0	4.36969e-10	0.001855	6.07595e-10	13	31				
AGBL1	123624	broad.mit.edu	37	15	86807756	86807757	+	Missense_Mutation	DNP	TC	TC	AA			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	TC	TC	-	-	TC	TC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr15:86807756_86807757TC>AA	ENST00000441037.2	+	10	1311_1312	c.1216_1217TC>AA	c.(1216-1218)TCt>AAt	p.S406N	AGBL1_ENST00000421325.2_Missense_Mutation_p.S406N|AGBL1_ENST00000389298.3_Missense_Mutation_p.S137N	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	406					C-terminal protein deglutamylation (GO:0035609)|protein side chain deglutamylation (GO:0035610)	cytoplasm (GO:0005737)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)	p.S406N(1)		NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						GAGAGATTCTTCTGAAAGTGAA	0.47																																							uc002blz.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1216-1218)TCT>AAT		ATP/GTP binding protein-like 1																																				SO:0001583	missense	123624				C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	g.chr15:86807756_86807757TC>AA	AK056872	CCDS58398.1	15q25.3	2014-06-23			ENSG00000166748	ENSG00000166748			26504	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 4"""	615496				21074048, 24094747	Standard	NM_152336		Approved	FLJ32310, CCP4	uc002blz.1	Q96MI9	OTTHUMG00000149978	Exception_encountered	15.37:g.86807756_86807757delinsAA	ENSP00000413001:p.Ser406Asn					AGBL1_uc002bma.1_Missense_Mutation_p.S137N|AGBL1_uc002bmb.1_Missense_Mutation_p.S100N	p.S406N	NM_152336	NP_689549	Q96MI9	CBPC4_HUMAN			10	1296_1297	+			406					A1A4X5|A6NJH6|C9JHL5	Missense_Mutation	DNP	ENST00000441037.2	37	c.1216_1217TC>AA	CCDS58398.1																																																																																				0.470	AGBL1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000314929.5	NM_152336		23	60	0	0	0	0.004672	0	23	60				
ACAN	176	broad.mit.edu	37	15	89398308	89398308	+	Missense_Mutation	SNP	C	C	T	rs547171655		TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr15:89398308C>T	ENST00000561243.1	+	11	2492	c.2492C>T	c.(2491-2493)cCc>cTc	p.P831L	ACAN_ENST00000439576.2_Missense_Mutation_p.P831L|ACAN_ENST00000559004.1_Missense_Mutation_p.P831L|ACAN_ENST00000352105.7_Missense_Mutation_p.P831L			P16112	PGCA_HUMAN	aggrecan	830	12 X 6 AA approximate tandem repeats of E-[GVE]-P-[SFY]-[APT]-[TSP].|KS.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)	p.P831L(2)		NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GAGCCATCCCCCTCAGAGGAA	0.632													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18948	0.0		0.0	False		,,,				2504	0.0						uc010upo.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|central_nervous_system(1)	3						c.(2491-2493)CCC>CTC		aggrecan isoform 2 precursor							33.0	37.0	36.0					15																	89398308		1963	4151	6114	SO:0001583	missense	176				cell adhesion		hyaluronic acid binding|sugar binding	g.chr15:89398308C>T	M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	319	protein-coding gene	gene with protein product	"""aggrecan proteoglycan"""	155760	"""chondroitin sulfate proteoglycan 1"", ""aggrecan 1"""	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.2492C>T	15.37:g.89398308C>T	ENSP00000453342:p.Pro831Leu					ACAN_uc010upp.1_Missense_Mutation_p.P831L|ACAN_uc002bna.2_RNA	p.P831L	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.146)		12	2866	+	Lung NSC(78;0.0392)|all_lung(78;0.077)		831					Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Missense_Mutation	SNP	ENST00000561243.1	37	c.2492C>T	CCDS53970.1	.	.	.	.	.	.	.	.	.	.	C	9.024	0.985624	0.18889	.	.	ENSG00000157766	ENST00000439576;ENST00000352105;ENST00000268134	T;T	0.02498	4.5;4.27	2.77	1.82	0.25136	.	.	.	.	.	T	0.01835	0.0058	N	0.14661	0.345	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.04013	0.001;0.001	T	0.46205	-0.9208	9	0.27082	T	0.32	.	5.555	0.17111	0.0:0.7332:0.0:0.2668	.	831;831	E7ENV9;E7EX88	.;.	L	831	ENSP00000387356:P831L;ENSP00000341615:P831L	ENSP00000268134:P831L	P	+	2	0	ACAN	87199312	0.335000	0.24748	0.002000	0.10522	0.001000	0.01503	2.709000	0.47160	1.470000	0.48102	0.563000	0.77884	CCC		0.632	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2	NM_001135		5	8	0	0	0	0.000602	0	5	8				
RHCG	51458	broad.mit.edu	37	15	90021158	90021158	+	Silent	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr15:90021158G>T	ENST00000268122.4	-	6	953	c.885C>A	c.(883-885)acC>acA	p.T295T	RHCG_ENST00000544600.1_Silent_p.T295T	NM_016321.1	NP_057405.1	Q9UBD6	RHCG_HUMAN	Rh family, C glycoprotein	295					amine transport (GO:0015837)|ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|cellular ion homeostasis (GO:0006873)|epithelial cell differentiation (GO:0030855)|homeostatic process (GO:0042592)|regulation of pH (GO:0006885)|transepithelial ammonium transport (GO:0070634)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ammonium transmembrane transporter activity (GO:0008519)|ankyrin binding (GO:0030506)	p.T295T(2)		breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(78;0.0237)|all_lung(78;0.0478)					TCTCAGCAGCGGTACCCACGG	0.617																																							uc002bnz.2		NA																	2	Substitution - coding silent(2)		large_intestine(1)|lung(1)	kidney(1)	1						c.(883-885)ACC>ACA		Rh family, C glycoprotein							63.0	60.0	61.0					15																	90021158		2200	4299	6499	SO:0001819	synonymous_variant	51458				amine transport|cellular ion homeostasis|epithelial cell differentiation|transepithelial ammonium transport	apical plasma membrane|basolateral plasma membrane|cytoplasmic vesicle|integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding	g.chr15:90021158G>T	AF081497	CCDS10351.1	15q25	2013-05-22	2006-02-23		ENSG00000140519	ENSG00000140519		"""Solute carriers"""	18140	protein-coding gene	gene with protein product		605381	"""chromosome 15 open reading frame 6"", ""Rhesus blood group, C glycoprotein"""	C15orf6		10852913	Standard	NM_016321		Approved	RHGK, PDRC2, SLC42A3	uc002bnz.2	Q9UBD6	OTTHUMG00000149647	ENST00000268122.4:c.885C>A	15.37:g.90021158G>T						RHCG_uc002bny.2_Silent_p.T66T|RHCG_uc002boa.2_RNA|RHCG_uc010bnq.1_Silent_p.T179T	p.T295T	NM_016321	NP_057405	Q9UBD6	RHCG_HUMAN			6	909	-	Lung NSC(78;0.0237)|all_lung(78;0.0478)		295			Helical; (Potential).		A8K4D4|Q6X3Y4	Silent	SNP	ENST00000268122.4	37	c.885C>A	CCDS10351.1																																																																																				0.617	RHCG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000312855.2	NM_016321		9	33	1	0	5.16669e-11	0.000978	7.42666e-11	9	33				
MCTP2	55784	broad.mit.edu	37	15	95001411	95001411	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr15:95001411G>C	ENST00000357742.4	+	19	2296	c.2296G>C	c.(2296-2298)Gat>Cat	p.D766H	MCTP2_ENST00000451018.3_Missense_Mutation_p.D711H	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	766					calcium-mediated signaling (GO:0019722)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	calcium ion binding (GO:0005509)	p.D766H(1)		autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			TATGGTACAGGATATTGTTTC	0.328																																							uc002btj.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(2296-2298)GAT>CAT		multiple C2 domains, transmembrane 2 isoform 1							123.0	129.0	127.0					15																	95001411		2197	4298	6495	SO:0001583	missense	55784				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding	g.chr15:95001411G>C	AK002037	CCDS32338.1, CCDS53975.1, CCDS53976.1	15q26.2	2006-02-08				ENSG00000140563			25636	protein-coding gene	gene with protein product						15528213	Standard	NM_018349		Approved	FLJ11175, FLJ33303	uc002btj.3	Q6DN12		ENST00000357742.4:c.2296G>C	15.37:g.95001411G>C	ENSP00000350377:p.Asp766His					MCTP2_uc010boj.2_Missense_Mutation_p.D495H|MCTP2_uc010bok.2_Missense_Mutation_p.D711H|MCTP2_uc002btl.2_Missense_Mutation_p.D354H	p.D766H	NM_018349	NP_060819	Q6DN12	MCTP2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)		19	2361	+	Lung NSC(78;0.0821)|all_lung(78;0.148)		766					A2RRC2|C6G483|C6G484|Q49AB0|Q8TAX2|Q9NUS2|Q9NUW7	Missense_Mutation	SNP	ENST00000357742.4	37	c.2296G>C	CCDS32338.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.346009	0.82022	.	.	ENSG00000140563	ENST00000451018;ENST00000357742	T;T	0.67865	-0.29;-0.16	4.94	4.94	0.65067	Phosphoribosyltransferase C-terminal (1);	0.143817	0.64402	D	0.000009	T	0.82102	0.4964	M	0.76838	2.35	0.80722	D	1	P;D	0.76494	0.69;0.999	B;D	0.71870	0.384;0.975	D	0.83939	0.0310	10	0.56958	D	0.05	.	18.5749	0.91151	0.0:0.0:1.0:0.0	.	711;766	Q6DN12-2;Q6DN12	.;MCTP2_HUMAN	H	711;766	ENSP00000395109:D711H;ENSP00000350377:D766H	ENSP00000350377:D766H	D	+	1	0	MCTP2	92802415	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.566000	0.82347	2.441000	0.82636	0.555000	0.69702	GAT		0.328	MCTP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415060.3	NM_018349		16	49	0	0	0	0.00499	0	16	49				
FAM169B	283777	broad.mit.edu	37	15	98995130	98995130	+	Silent	SNP	C	C	G			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr15:98995130C>G	ENST00000558256.1	-	5	543	c.294G>C	c.(292-294)cgG>cgC	p.R98R	FAM169B_ENST00000332908.4_Silent_p.R98R	NM_182562.2	NP_872368.2	Q8N8A8	F169B_HUMAN	family with sequence similarity 169, member B	98								p.R98R(1)		large_intestine(3)|lung(3)|urinary_tract(1)	7						CACAGAAGTCCCGCAGCATGG	0.587																																							uc002buk.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(292-294)CGG>CGC		hypothetical protein LOC283777							48.0	53.0	51.0					15																	98995130		2021	4186	6207	SO:0001819	synonymous_variant	283777							g.chr15:98995130C>G		CCDS45360.1	15q26.3	2008-08-08			ENSG00000185087	ENSG00000185087			26835	protein-coding gene	gene with protein product							Standard	NM_182562		Approved	FLJ39743, KIAA0888L	uc002buk.1	Q8N8A8		ENST00000558256.1:c.294G>C	15.37:g.98995130C>G							p.R98R	NM_182562	NP_872368	Q8N8A8	F169B_HUMAN			5	544	-			98					B5MDL8	Silent	SNP	ENST00000558256.1	37	c.294G>C	CCDS45360.1																																																																																				0.587	FAM169B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415488.1	NM_182562		4	12	0	0	0	0.009096	0	4	12				
IGF1R	3480	broad.mit.edu	37	15	99465614	99465614	+	Silent	SNP	G	G	C			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr15:99465614G>C	ENST00000268035.6	+	11	3050	c.2439G>C	c.(2437-2439)ctG>ctC	p.L813L	IGF1R_ENST00000558762.1_Silent_p.L813L	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	813	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|brain development (GO:0007420)|epidermis development (GO:0008544)|establishment of cell polarity (GO:0030010)|exocrine pancreas development (GO:0031017)|immune response (GO:0006955)|inactivation of MAPKK activity (GO:0051389)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|male sex determination (GO:0030238)|mammary gland development (GO:0030879)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|peptidyl-tyrosine autophosphorylation (GO:0038083)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of DNA replication (GO:0045740)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|prostate gland epithelium morphogenesis (GO:0060740)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein tetramerization (GO:0051262)|regulation of JNK cascade (GO:0046328)|response to vitamin E (GO:0033197)|signal transduction (GO:0007165)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor binding (GO:0005520)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor-activated receptor activity (GO:0005010)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)	p.L813L(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		"""""""Insulin(DB00071)|Insulin Glargine(DB00047)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"""	CTGAGAAGCTGGGCTGCAGCG	0.532																																							uc002bul.2		NA																	1	Substitution - coding silent(1)		lung(1)	lung(3)|kidney(3)|ovary(1)|central_nervous_system(1)	8						c.(2437-2439)CTG>CTC		insulin-like growth factor 1 receptor precursor	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)						105.0	103.0	104.0					15																	99465614		2197	4297	6494	SO:0001819	synonymous_variant	3480				anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding	g.chr15:99465614G>C	M69229	CCDS10378.1, CCDS73785.1	15q26.3	2013-02-11			ENSG00000140443	ENSG00000140443		"""CD molecules"", ""Fibronectin type III domain containing"""	5465	protein-coding gene	gene with protein product		147370				1316909	Standard	XM_006720486		Approved	JTK13, CD221, IGFIR, MGC18216, IGFR	uc002bul.3	P08069	OTTHUMG00000149851	ENST00000268035.6:c.2439G>C	15.37:g.99465614G>C						IGF1R_uc010urq.1_Silent_p.L813L|IGF1R_uc010bon.2_Silent_p.L813L|IGF1R_uc010boo.1_5'Flank	p.L813L	NM_000875	NP_000866	P08069	IGF1R_HUMAN	Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		11	2489	+	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		813			Extracellular (Potential).		B1B5Y2|Q14CV2|Q9UCC0	Silent	SNP	ENST00000268035.6	37	c.2439G>C	CCDS10378.1																																																																																				0.532	IGF1R-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313537.2	NM_000875		15	53	0	0	0	0.007413	0	15	53				
LINS	55180	broad.mit.edu	37	15	101112154	101112154	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr15:101112154C>A	ENST00000314742.8	-	6	1561	c.1339G>T	c.(1339-1341)Gat>Tat	p.D447Y	LINS_ENST00000559149.1_5'Flank	NM_001040616.2	NP_001035706	Q8NG48	LINES_HUMAN	lines homolog (Drosophila)	447								p.D447Y(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(4)	21						AGCATGTCATCGTCTTGTTCT	0.448																																							uc002bwe.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1339-1341)GAT>TAT		lines homolog 1							105.0	100.0	102.0					15																	101112154		2203	4300	6503	SO:0001583	missense	55180							g.chr15:101112154C>A	AK095448	CCDS10385.1	15q26.3	2010-09-08	2010-09-08	2010-09-08	ENSG00000140471	ENSG00000140471			30922	protein-coding gene	gene with protein product		610350	"""lines homolog 1 (Drosophila)"""	LINS1		12119551, 8889548	Standard	NM_001040616		Approved	WINS1	uc002bwg.3	Q8NG48	OTTHUMG00000149865	ENST00000314742.8:c.1339G>T	15.37:g.101112154C>A	ENSP00000318423:p.Asp447Tyr					LINS1_uc002bwd.2_Missense_Mutation_p.D34Y|LINS1_uc002bwf.2_Missense_Mutation_p.D447Y|LINS1_uc002bwg.2_Missense_Mutation_p.D447Y|LINS1_uc002bwh.2_Missense_Mutation_p.D447Y	p.D447Y	NM_001040614	NP_001035704	Q8NG48	LINES_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.00095)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)		7	1630	-	Lung NSC(78;0.0018)|all_lung(78;0.00223)|Melanoma(26;0.00852)		447					Q96FW2|Q9NVQ3	Missense_Mutation	SNP	ENST00000314742.8	37	c.1339G>T	CCDS10385.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.695572	0.88830	.	.	ENSG00000140471	ENST00000314742	T	0.39787	1.06	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.69771	0.3148	M	0.79926	2.475	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.71087	-0.4694	10	0.87932	D	0	-24.1867	20.6593	0.99626	0.0:1.0:0.0:0.0	.	447	Q8NG48	LINES_HUMAN	Y	447	ENSP00000318423:D447Y	ENSP00000318423:D447Y	D	-	1	0	LINS	98929677	1.000000	0.71417	0.996000	0.52242	0.979000	0.70002	6.227000	0.72282	2.885000	0.99019	0.655000	0.94253	GAT		0.448	LINS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313592.1	NM_018148		23	65	1	0	1.10923e-09	0.00278	1.51353e-09	23	65				
MSLNL	401827	broad.mit.edu	37	16	823010	823010	+	Silent	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr16:823010C>A	ENST00000442466.1	-	10	1121	c.1122G>T	c.(1120-1122)cgG>cgT	p.R374R	MSLNL_ENST00000293892.3_Silent_p.R725R|MIR662_ENST00000384847.1_RNA			Q96KJ4	MSLNL_HUMAN	mesothelin-like	374					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)		p.R725R(1)		breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						AGGTGATGAGCCGCAGCTGAT	0.672																																							uc002cjz.1		NA																	1	Substitution - coding silent(1)		lung(1)	breast(3)|ovary(1)	4						c.(2173-2175)CGG>CGT		mesothelin-like							92.0	110.0	104.0					16																	823010		2185	4270	6455	SO:0001819	synonymous_variant	401827				cell adhesion	integral to membrane		g.chr16:823010C>A			16p13.3	2008-08-06	2008-07-04	2008-07-04	ENSG00000162006	ENSG00000162006			14170	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 37"""	C16orf37			Standard	NG_032123		Approved	MPFL		Q96KJ4		ENST00000442466.1:c.1122G>T	16.37:g.823010C>A							p.R725R	NM_001025190	NP_001020361	Q96KJ4	MSLNL_HUMAN			11	2175	-			374			Extracellular (Potential).			Silent	SNP	ENST00000442466.1	37	c.2175G>T																																																																																					0.672	MSLNL-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_001025190		42	58	1	0	2.01807e-28	0.00361	3.70281e-28	42	58				
SNX29	92017	broad.mit.edu	37	16	12145987	12145987	+	Silent	SNP	C	C	T	rs202120990		TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr16:12145987C>T	ENST00000566228.1	+	8	1101	c.1032C>T	c.(1030-1032)agC>agT	p.S344S	SNX29_ENST00000323433.4_5'Flank|SNX29_ENST00000306030.3_5'Flank	NM_032167.3	NP_115543.3	Q8TEQ0	SNX29_HUMAN	sorting nexin 29	344				S -> G (in Ref. 2; BAB14033). {ECO:0000305}.		extracellular vesicular exosome (GO:0070062)	phosphatidylinositol binding (GO:0035091)	p.S344S(1)		endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	7						ATGTGAAAAGCATCGATGATG	0.478													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20040	0.0		0.0	False		,,,				2504	0.0						uc002dbw.1		NA								T					CIITA		PMBL|Hodgkin Lymphona|		1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1030-1032)AGC>AGT		RUN domain containing 2A							106.0	109.0	108.0					16																	12145987		2197	4300	6497	SO:0001819	synonymous_variant	84127							g.chr16:12145987C>T	AK074072	CCDS10553.2	16p13.13-p13.12	2011-08-16			ENSG00000048471	ENSG00000048471		"""Sorting nexins"""	30542	protein-coding gene	gene with protein product			"""RUN domain containing 2A"""	RUNDC2A		16782399	Standard	XM_005255682		Approved	FLJ12363	uc002dby.5	Q8TEQ0		ENST00000566228.1:c.1032C>T	16.37:g.12145987C>T						SNX29_uc002dby.3_5'Flank	p.S344S	NM_032167	NP_115543	Q9HA26	RUN2A_HUMAN			8	1094	+			344	S -> G (in Ref. 1; BAB14033).				B5MDW2|Q8N2X2|Q9HA26	Silent	SNP	ENST00000566228.1	37	c.1032C>T	CCDS10553.2																																																																																				0.478	SNX29-005	PUTATIVE	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422622.1			20	130	0	0	0	0.007413	0	20	130				
ACSM2B	348158	broad.mit.edu	37	16	20576096	20576096	+	Silent	SNP	G	G	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr16:20576096G>A	ENST00000329697.6	-	2	240	c.72C>T	c.(70-72)taC>taT	p.Y24Y	ACSM2B_ENST00000565232.1_Silent_p.Y24Y|ACSM2B_ENST00000414188.2_Silent_p.Y24Y|ACSM2B_ENST00000565322.1_Intron|ACSM2B_ENST00000567001.1_Silent_p.Y24Y	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	24					fatty acid metabolic process (GO:0006631)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)	p.Y24Y(1)		breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						TACTATTAATGTAGAGAGTGC	0.512																																							uc002dhj.3		NA																	1	Substitution - coding silent(1)		lung(1)	skin(3)|ovary(1)|central_nervous_system(1)	5						c.(70-72)TAC>TAT		acyl-CoA synthetase medium-chain family member							42.0	42.0	42.0					16																	20576096		2201	4296	6497	SO:0001819	synonymous_variant	348158				fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding	g.chr16:20576096G>A	AY160217	CCDS10586.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000066813	ENSG00000066813		"""Acyl-CoA synthetase family"""	30931	protein-coding gene	gene with protein product	"""xenobiotic/medium chain fatty acid:CoA ligase"""	614359	"""acyl-CoA synthetase medium-chain family member 2"""	ACSM2		12616642	Standard	NM_182617		Approved	HXMA, HYST1046	uc002dhk.4	Q68CK6	OTTHUMG00000131555	ENST00000329697.6:c.72C>T	16.37:g.20576096G>A						ACSM2B_uc002dhk.3_Silent_p.Y24Y|ACSM2B_uc010bwf.1_Silent_p.Y24Y	p.Y24Y	NM_182617	NP_872423	Q68CK6	ACS2B_HUMAN			3	282	-			24					Q86YT1	Silent	SNP	ENST00000329697.6	37	c.72C>T	CCDS10586.1																																																																																				0.512	ACSM2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254417.2	NM_182617		12	29	0	0	0	0.00245	0	12	29				
ARHGAP17	55114	broad.mit.edu	37	16	24979672	24979672	+	Splice_Site	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr16:24979672C>A	ENST00000289968.6	-	6	530	c.461G>T	c.(460-462)aGg>aTg	p.R154M	ARHGAP17_ENST00000303665.5_Splice_Site_p.R154M|ARHGAP17_ENST00000441763.2_Splice_Site_p.R154M|ARHGAP17_ENST00000575975.1_5'UTR	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN	Rho GTPase activating protein 17	154	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	GTPase activator activity (GO:0005096)	p.R154M(2)		breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30				GBM - Glioblastoma multiforme(48;0.0407)		AAGCTGTTACCTGGCTCTGAC	0.493																																							uc002dnb.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(460-462)AGG>ATG		nadrin isoform 1							148.0	111.0	124.0					16																	24979672		2197	4300	6497	SO:0001630	splice_region_variant	55114				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|tight junction	GTPase activator activity|SH3 domain binding	g.chr16:24979672C>A	AJ306731	CCDS32408.1, CCDS32409.1	16p12.2-p12.1	2011-06-29				ENSG00000140750		"""Rho GTPase activating proteins"""	18239	protein-coding gene	gene with protein product		608293				10967100, 11431473	Standard	XM_005255413		Approved	RICH1, FLJ10308, NADRIN, FLJ13219, WBP15	uc002dnb.3	Q68EM7		ENST00000289968.6:c.461+1G>T	16.37:g.24979672C>A						ARHGAP17_uc002dnc.2_Missense_Mutation_p.R154M|ARHGAP17_uc010vcf.1_Translation_Start_Site|ARHGAP17_uc002dnf.2_Missense_Mutation_p.R62M|ARHGAP17_uc002dng.1_Missense_Mutation_p.R154M	p.R154M	NM_001006634	NP_001006635	Q68EM7	RHG17_HUMAN		GBM - Glioblastoma multiforme(48;0.0407)	6	554	-			154			BAR.		A8K6M6|Q6ZUS4|Q7Z2F2|Q8NDG2|Q96KS2|Q96KS3|Q96SS8|Q9BVF6|Q9H8U5|Q9NW54	Missense_Mutation	SNP	ENST00000289968.6	37	c.461G>T	CCDS32409.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.595603	0.86953	.	.	ENSG00000140750	ENST00000289968;ENST00000303665;ENST00000441763;ENST00000455311	T;T;T	0.37058	1.22;1.22;1.22	5.5	5.5	0.81552	BAR (3);	0.000000	0.49305	D	0.000151	T	0.66177	0.2763	M	0.87180	2.865	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.971;0.998;0.998;0.997	T	0.70730	-0.4792	9	.	.	.	.	16.9677	0.86290	0.0:1.0:0.0:0.0	.	154;154;154;154	Q68EM7-4;C9IZD3;Q68EM7-2;Q68EM7	.;.;.;RHG17_HUMAN	M	154	ENSP00000289968:R154M;ENSP00000303130:R154M;ENSP00000406950:R154M	.	R	-	2	0	ARHGAP17	24887173	1.000000	0.71417	1.000000	0.80357	0.632000	0.37999	7.390000	0.79816	2.601000	0.87937	0.650000	0.86243	AGG		0.493	ARHGAP17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436548.3	NM_018054	Missense_Mutation	21	52	1	0	0.00278032	0.00278	0.00298476	21	52				
IL21R	50615	broad.mit.edu	37	16	27460516	27460516	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr16:27460516C>A	ENST00000337929.3	+	9	2002	c.1529C>A	c.(1528-1530)cCc>cAc	p.P510H	IL21R_ENST00000395754.4_Missense_Mutation_p.P510H|IL21R_ENST00000395755.1_Missense_Mutation_p.P510H|IL21R-AS1_ENST00000563191.1_RNA|IL21R_ENST00000564089.1_Missense_Mutation_p.P510H	NM_181078.2	NP_851564.1	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor	510					interleukin-21-mediated signaling pathway (GO:0038114)|natural killer cell activation (GO:0030101)	integral component of membrane (GO:0016021)	interleukin-21 receptor activity (GO:0001532)	p.P510H(1)		breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						TTCACCAGCCCCGGGGACGAA	0.652			T	BCL6	NHL																																		uc002doq.1		NA		Dom	yes		16	16p11	50615	T	interleukin 21 receptor			L	BCL6		NHL		1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)|breast(1)	4						c.(1528-1530)CCC>CAC		interleukin 21 receptor precursor							42.0	39.0	40.0					16																	27460516		2194	4292	6486	SO:0001583	missense	50615				natural killer cell activation	integral to membrane	interleukin-21 receptor activity	g.chr16:27460516C>A	AF254067	CCDS10630.1	16p11	2014-09-17			ENSG00000103522	ENSG00000103522		"""Interleukins and interleukin receptors"", ""CD molecules"""	6006	protein-coding gene	gene with protein product		605383				11081504	Standard	NM_181078		Approved	CD360	uc002dos.2	Q9HBE5	OTTHUMG00000131675	ENST00000337929.3:c.1529C>A	16.37:g.27460516C>A	ENSP00000338010:p.Pro510His					IL21R_uc002dor.1_Missense_Mutation_p.P510H|IL21R_uc002dos.1_Missense_Mutation_p.P510H|uc002dot.2_RNA	p.P510H	NM_181078	NP_851564	Q9HBE5	IL21R_HUMAN			9	1762	+			510			Cytoplasmic (Potential).		A8K9E8|D3DWF7|Q96HZ1|Q9HB91	Missense_Mutation	SNP	ENST00000337929.3	37	c.1529C>A	CCDS10630.1	.	.	.	.	.	.	.	.	.	.	C	4.120	0.020498	0.08006	.	.	ENSG00000103522	ENST00000337929;ENST00000395755;ENST00000395754	T;T;T	0.36520	1.25;1.25;1.25	4.53	1.16	0.20824	.	1.088660	0.07028	N	0.827897	T	0.41119	0.1145	L	0.44542	1.39	0.09310	N	1	D	0.65815	0.995	P	0.55824	0.785	T	0.29088	-1.0023	10	0.48119	T	0.1	-10.8437	4.2705	0.10783	0.0:0.5889:0.1915:0.2196	.	510	Q9HBE5	IL21R_HUMAN	H	510	ENSP00000338010:P510H;ENSP00000379104:P510H;ENSP00000379103:P510H	ENSP00000338010:P510H	P	+	2	0	IL21R	27368017	0.000000	0.05858	0.008000	0.14137	0.018000	0.09664	0.381000	0.20619	0.894000	0.36317	0.561000	0.74099	CCC		0.652	IL21R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254578.2	NM_181078		7	55	1	0	0.00198382	0.001984	0.00213417	7	55				
GTF3C1	2975	broad.mit.edu	37	16	27544624	27544624	+	Silent	SNP	C	C	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr16:27544624C>T	ENST00000356183.4	-	5	852	c.837G>A	c.(835-837)ctG>ctA	p.L279L	GTF3C1_ENST00000561623.1_Silent_p.L279L	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	279					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription (GO:0009304)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)	p.L279L(1)		breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						GCTCTTCCCTCAGCTTTCCCA	0.547																																							uc002dov.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|pancreas(1)|breast(1)|skin(1)	5						c.(835-837)CTG>CTA		general transcription factor IIIC, polypeptide							123.0	109.0	114.0					16																	27544624		2197	4300	6497	SO:0001819	synonymous_variant	2975					transcription factor TFIIIC complex	DNA binding|protein binding	g.chr16:27544624C>T	U06485	CCDS32414.1, CCDS66988.1	16p12	2010-03-23	2002-08-29			ENSG00000077235		"""General transcription factors"""	4664	protein-coding gene	gene with protein product		603246	"""general transcription factor IIIC, polypeptide 1 (alpha subunit, 220kD )"""			8164661, 8127861	Standard	NM_001520		Approved	TFIIIC220	uc002dov.2	Q12789		ENST00000356183.4:c.837G>A	16.37:g.27544624C>T						GTF3C1_uc002dou.2_Silent_p.L279L	p.L279L	NM_001520	NP_001511	Q12789	TF3C1_HUMAN			5	877	-			279					B2RP21|Q12838|Q6DKN9|Q9Y4W9	Silent	SNP	ENST00000356183.4	37	c.837G>A	CCDS32414.1																																																																																				0.547	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433856.1	NM_001520		13	70	0	0	0	0.00499	0	13	70				
ITGAD	3681	broad.mit.edu	37	16	31419214	31419214	+	Missense_Mutation	SNP	A	A	T	rs528380726		TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr16:31419214A>T	ENST00000389202.2	+	9	1035	c.986A>T	c.(985-987)cAg>cTg	p.Q329L		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	329	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				activated T cell proliferation (GO:0050798)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|integrin-mediated signaling pathway (GO:0007229)	cell surface (GO:0009986)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)	p.Q329L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						AAGCAGCTGCAGGAGAAGATC	0.562																																							uc002ebv.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(985-987)CAG>CTG		integrin, alpha D precursor							57.0	56.0	57.0					16																	31419214		2197	4300	6497	SO:0001583	missense	3681				cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity	g.chr16:31419214A>T	U40274	CCDS32438.1	16p13.1-p11	2010-03-23				ENSG00000156886		"""CD molecules"", ""Integrins"""	6146	protein-coding gene	gene with protein product		602453				8666289, 9598326	Standard	NM_005353		Approved	CD11d, ADB2	uc002ebv.1	Q13349		ENST00000389202.2:c.986A>T	16.37:g.31419214A>T	ENSP00000373854:p.Gln329Leu					ITGAD_uc010vfl.1_Silent_p.A361A|ITGAD_uc010cap.1_Missense_Mutation_p.Q329L|ITGAD_uc002ebw.1_Silent_p.A172A	p.Q329L	NM_005353	NP_005344	Q13349	ITAD_HUMAN			9	1035	+			329			Extracellular (Potential).|VWFA.		Q15575|Q15576	Missense_Mutation	SNP	ENST00000389202.2	37	c.986A>T	CCDS32438.1	.	.	.	.	.	.	.	.	.	.	a	25.4	4.632506	0.87660	.	.	ENSG00000156886	ENST00000444228;ENST00000389202	T	0.19532	2.14	5.01	5.01	0.66863	von Willebrand factor, type A (2);	.	.	.	.	T	0.35128	0.0921	M	0.67953	2.075	0.37422	D	0.91369	P;P	0.52316	0.952;0.952	P;P	0.52598	0.703;0.703	T	0.43294	-0.9400	9	0.72032	D	0.01	.	12.7173	0.57121	1.0:0.0:0.0:0.0	.	345;329	Q59H14;Q13349	.;ITAD_HUMAN	L	345;329	ENSP00000373854:Q329L	ENSP00000373854:Q329L	Q	+	2	0	ITGAD	31326715	1.000000	0.71417	0.894000	0.35097	0.966000	0.64601	4.090000	0.57693	1.880000	0.54463	0.477000	0.44152	CAG		0.562	ITGAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432836.1	NM_005353		25	42	0	0	0	0.004656	0	25	42				
ITGAD	3681	broad.mit.edu	37	16	31422636	31422636	+	Missense_Mutation	SNP	A	A	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr16:31422636A>T	ENST00000389202.2	+	14	1554	c.1505A>T	c.(1504-1506)cAg>cTg	p.Q502L		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	502					activated T cell proliferation (GO:0050798)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|integrin-mediated signaling pathway (GO:0007229)	cell surface (GO:0009986)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)	p.Q502L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						CAGAGGGTGCAGTGGCAGTGT	0.632																																							uc002ebv.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1504-1506)CAG>CTG		integrin, alpha D precursor							122.0	119.0	120.0					16																	31422636		2197	4300	6497	SO:0001583	missense	3681				cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity	g.chr16:31422636A>T	U40274	CCDS32438.1	16p13.1-p11	2010-03-23				ENSG00000156886		"""CD molecules"", ""Integrins"""	6146	protein-coding gene	gene with protein product		602453				8666289, 9598326	Standard	NM_005353		Approved	CD11d, ADB2	uc002ebv.1	Q13349		ENST00000389202.2:c.1505A>T	16.37:g.31422636A>T	ENSP00000373854:p.Gln502Leu					ITGAD_uc010cap.1_Missense_Mutation_p.Q503L	p.Q502L	NM_005353	NP_005344	Q13349	ITAD_HUMAN			14	1554	+			502			Extracellular (Potential).|FG-GAP 5.		Q15575|Q15576	Missense_Mutation	SNP	ENST00000389202.2	37	c.1505A>T	CCDS32438.1	.	.	.	.	.	.	.	.	.	.	A	4.302	0.055261	0.08291	.	.	ENSG00000156886	ENST00000444228;ENST00000389202	T	0.10005	2.92	4.49	-7.32	0.01436	.	.	.	.	.	T	0.04543	0.0124	N	0.10685	0.025	0.09310	N	1	B;B	0.13145	0.007;0.007	B;B	0.13407	0.009;0.009	T	0.43426	-0.9392	9	0.31617	T	0.26	.	9.366	0.38226	0.2622:0.1362:0.6016:0.0	.	518;502	Q59H14;Q13349	.;ITAD_HUMAN	L	518;502	ENSP00000373854:Q502L	ENSP00000373854:Q502L	Q	+	2	0	ITGAD	31330137	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.133000	0.03232	-1.976000	0.00996	-1.653000	0.00756	CAG		0.632	ITGAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432836.1	NM_005353		29	167	0	0	0	0.009535	0	29	167				
ABCC12	94160	broad.mit.edu	37	16	48138053	48138053	+	Splice_Site	SNP	C	C	G	rs372962244		TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr16:48138053C>G	ENST00000311303.3	-	20	3245	c.2900G>C	c.(2899-2901)cGc>cCc	p.R967P	ABCC12_ENST00000448542.1_Intron|ABCC12_ENST00000416054.1_3'UTR	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	967	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.					integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)	p.R967P(1)		NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				ATGGGCCTACCGTAACAGAAT	0.458																																							uc002efc.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(2899-2901)CGC>CCC		ATP-binding cassette protein C12							98.0	98.0	98.0					16																	48138053		2201	4300	6501	SO:0001630	splice_region_variant	94160					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:48138053C>G	AY040220	CCDS10730.1	16q12.1	2012-03-14			ENSG00000140798	ENSG00000140798		"""ATP binding cassette transporters / subfamily C"""	14640	protein-coding gene	gene with protein product		607041				11435397, 11483364	Standard	NM_033226		Approved	MRP9	uc002efc.1	Q96J65	OTTHUMG00000133143	ENST00000311303.3:c.2900+1G>C	16.37:g.48138053C>G						ABCC12_uc002eey.1_RNA|ABCC12_uc002eez.1_RNA|ABCC12_uc002efa.1_RNA|ABCC12_uc002efb.1_Intron|ABCC12_uc002efd.1_RNA	p.R967P	NM_033226	NP_150229	Q96J65	MRP9_HUMAN			20	3246	-		all_cancers(37;0.0474)|all_lung(18;0.047)	967			ABC transmembrane type-1 2.		Q49AL2|Q8TAF0|Q8TEY2	Missense_Mutation	SNP	ENST00000311303.3	37	c.2900G>C	CCDS10730.1	.	.	.	.	.	.	.	.	.	.	C	8.856	0.945735	0.18356	.	.	ENSG00000140798	ENST00000311303;ENST00000449939	D	0.89810	-2.57	5.55	2.49	0.30216	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.810801	0.12167	N	0.493460	D	0.90366	0.6985	M	0.80616	2.505	0.80722	D	1	P	0.46656	0.882	P	0.51297	0.665	D	0.86654	0.1900	9	.	.	.	.	3.6714	0.08276	0.1796:0.5741:0.0:0.2463	.	967	Q96J65	MRP9_HUMAN	P	967;885	ENSP00000311030:R967P	.	R	-	2	0	ABCC12	46695554	0.322000	0.24634	0.399000	0.26333	0.043000	0.13939	0.523000	0.22925	0.670000	0.31165	-0.137000	0.14449	CGC		0.458	ABCC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256837.1	NM_033226	Missense_Mutation	14	16	0	0	0	0.00245	0	14	16				
ZNF423	23090	broad.mit.edu	37	16	49669980	49669980	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr16:49669980G>T	ENST00000561648.1	-	4	3136	c.3083C>A	c.(3082-3084)aCa>aAa	p.T1028K	ZNF423_ENST00000262383.2_Missense_Mutation_p.T1028K|ZNF423_ENST00000562520.1_Missense_Mutation_p.T968K|ZNF423_ENST00000567169.1_Missense_Mutation_p.T911K|ZNF423_ENST00000563137.2_Missense_Mutation_p.T968K|ZNF423_ENST00000562871.1_Missense_Mutation_p.T968K|ZNF423_ENST00000535559.1_Missense_Mutation_p.T911K	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	1028					cell differentiation (GO:0030154)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.T1028K(2)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				GGAAGTGACTGTCTGCATGCA	0.612																																							uc002efs.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|lung(1)|kidney(1)|pancreas(1)	4						c.(3082-3084)ACA>AAA		zinc finger protein 423							88.0	81.0	83.0					16																	49669980		2199	4300	6499	SO:0001583	missense	23090				cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr16:49669980G>T	AB018303	CCDS32445.1, CCDS61930.1	16q12	2014-01-28				ENSG00000102935		"""Zinc fingers, C2H2-type"""	16762	protein-coding gene	gene with protein product	"""OLF-1/EBF associated zinc finger gene"", "" Smad- and Olf-interacting zinc finger protein"", ""early B-cell factor associated zinc finger protein"""	604557				9872452, 10660046	Standard	NM_001271620		Approved	KIAA0760, OAZ, Roaz, Ebfaz, Zfp104, NPHP14, JBTS19	uc031qwd.1	Q2M1K9		ENST00000561648.1:c.3083C>A	16.37:g.49669980G>T	ENSP00000455426:p.Thr1028Lys					ZNF423_uc010vgn.1_Missense_Mutation_p.T911K	p.T1028K	NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN			5	3381	-		all_cancers(37;0.0155)	1028			C2H2-type 24.		O94860|Q76N04|Q9NZ13	Missense_Mutation	SNP	ENST00000561648.1	37	c.3083C>A	CCDS32445.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.139859	0.77775	.	.	ENSG00000102935	ENST00000262383;ENST00000535559	T;T	0.11712	2.75;2.85	5.0	5.0	0.66597	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.093729	0.64402	D	0.000001	T	0.22044	0.0531	L	0.27053	0.805	0.58432	D	0.999998	D	0.76494	0.999	D	0.87578	0.998	T	0.03922	-1.0992	9	.	.	.	-18.1121	18.3264	0.90255	0.0:0.0:1.0:0.0	.	1028	Q2M1K9	ZN423_HUMAN	K	1028;911	ENSP00000262383:T1028K;ENSP00000442321:T911K	.	T	-	2	0	ZNF423	48227481	1.000000	0.71417	0.996000	0.52242	0.939000	0.58152	7.863000	0.87023	2.342000	0.79632	0.561000	0.74099	ACA		0.612	ZNF423-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000423258.1	NM_015069		7	18	1	0	0.00198382	0.001984	0.00213417	7	18				
ZNF423	23090	broad.mit.edu	37	16	49670412	49670412	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr16:49670412G>T	ENST00000561648.1	-	4	2704	c.2651C>A	c.(2650-2652)cCc>cAc	p.P884H	ZNF423_ENST00000262383.2_Missense_Mutation_p.P884H|ZNF423_ENST00000562520.1_Missense_Mutation_p.P824H|ZNF423_ENST00000567169.1_Missense_Mutation_p.P767H|ZNF423_ENST00000563137.2_Missense_Mutation_p.P824H|ZNF423_ENST00000562871.1_Missense_Mutation_p.P824H|ZNF423_ENST00000535559.1_Missense_Mutation_p.P767H	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	884					cell differentiation (GO:0030154)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.P884H(2)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				GCCGTACATGGGCTCCGACGC	0.612																																							uc002efs.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|lung(1)|kidney(1)|pancreas(1)	4						c.(2650-2652)CCC>CAC		zinc finger protein 423							75.0	69.0	71.0					16																	49670412		2198	4300	6498	SO:0001583	missense	23090				cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr16:49670412G>T	AB018303	CCDS32445.1, CCDS61930.1	16q12	2014-01-28				ENSG00000102935		"""Zinc fingers, C2H2-type"""	16762	protein-coding gene	gene with protein product	"""OLF-1/EBF associated zinc finger gene"", "" Smad- and Olf-interacting zinc finger protein"", ""early B-cell factor associated zinc finger protein"""	604557				9872452, 10660046	Standard	NM_001271620		Approved	KIAA0760, OAZ, Roaz, Ebfaz, Zfp104, NPHP14, JBTS19	uc031qwd.1	Q2M1K9		ENST00000561648.1:c.2651C>A	16.37:g.49670412G>T	ENSP00000455426:p.Pro884His					ZNF423_uc010vgn.1_Missense_Mutation_p.P767H	p.P884H	NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN			5	2949	-		all_cancers(37;0.0155)	884					O94860|Q76N04|Q9NZ13	Missense_Mutation	SNP	ENST00000561648.1	37	c.2651C>A	CCDS32445.1	.	.	.	.	.	.	.	.	.	.	G	18.16	3.561853	0.65538	.	.	ENSG00000102935	ENST00000262383;ENST00000535559	T;T	0.09723	2.95;3.01	4.81	4.81	0.61882	.	0.000000	0.85682	D	0.000000	T	0.31420	0.0796	M	0.62723	1.935	0.50813	D	0.999893	D	0.89917	1.0	D	0.91635	0.999	T	0.01834	-1.1264	9	.	.	.	-32.2494	17.8857	0.88854	0.0:0.0:1.0:0.0	.	884	Q2M1K9	ZN423_HUMAN	H	884;767	ENSP00000262383:P884H;ENSP00000442321:P767H	.	P	-	2	0	ZNF423	48227913	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	9.860000	0.99555	2.234000	0.73211	0.561000	0.74099	CCC		0.612	ZNF423-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000423258.1	NM_015069		16	54	1	0	1.15088e-07	0.004007	1.44674e-07	16	54				
CDH8	1006	broad.mit.edu	37	16	61823358	61823358	+	Nonsense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr16:61823358C>A	ENST00000577390.1	-	8	2260	c.1306G>T	c.(1306-1308)Gag>Tag	p.E436*	CDH8_ENST00000577730.1_Nonsense_Mutation_p.E436*|CDH8_ENST00000299345.6_Nonsense_Mutation_p.E436*|CDH8_ENST00000584337.1_Nonsense_Mutation_p.E436*	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	436	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|response to cold (GO:0009409)|synaptic transmission, glutamatergic (GO:0035249)	axon terminus (GO:0043679)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)	calcium ion binding (GO:0005509)	p.E436*(1)		biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		AACTGCCTCTCCAGGTCAGTG	0.418																																							uc002eog.1		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(6)|skin(2)|breast(1)	9						c.(1306-1308)GAG>TAG		cadherin 8, type 2 preproprotein							206.0	170.0	182.0					16																	61823358		2203	4300	6503	SO:0001587	stop_gained	1006				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr16:61823358C>A	L34060	CCDS10802.1	16q22.1	2010-01-26			ENSG00000150394	ENSG00000150394		"""Cadherins / Major cadherins"""	1767	protein-coding gene	gene with protein product		603008				9615235, 2059658	Standard	NM_001796		Approved		uc002eog.2	P55286	OTTHUMG00000137493	ENST00000577390.1:c.1306G>T	16.37:g.61823358C>A	ENSP00000462701:p.Glu436*					CDH8_uc002eoh.2_Nonsense_Mutation_p.E205*	p.E436*	NM_001796	NP_001787	P55286	CADH8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)	8	1558	-		Ovarian(137;0.0799)|Melanoma(118;0.16)	436			Extracellular (Potential).|Cadherin 4.		B3KWC1|Q14DC6|Q9ULB2	Nonsense_Mutation	SNP	ENST00000577390.1	37	c.1306G>T	CCDS10802.1	.	.	.	.	.	.	.	.	.	.	C	41	8.767779	0.98945	.	.	ENSG00000150394	ENST00000299345	.	.	.	5.3	5.3	0.74995	.	0.048202	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	.	19.305	0.94157	0.0:1.0:0.0:0.0	.	.	.	.	X	436	.	ENSP00000299345:E436X	E	-	1	0	CDH8	60380859	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.323000	0.79105	2.629000	0.89072	0.491000	0.48974	GAG		0.418	CDH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268754.3	NM_001796		18	23	1	0	0.000132079	0.008871	0.000148172	18	23				
CDH11	1009	broad.mit.edu	37	16	65005902	65005902	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr16:65005902G>A	ENST00000268603.4	-	10	2071	c.1456C>T	c.(1456-1458)Ccc>Tcc	p.P486S	CDH11_ENST00000566827.1_Missense_Mutation_p.P360S|CDH11_ENST00000394156.3_Missense_Mutation_p.P486S	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	486	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|corticospinal tract morphogenesis (GO:0021957)|homophilic cell adhesion (GO:0007156)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P486S(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		GCAAACTTGGGAGCATTATCG	0.483			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)																													uc002eoi.2		NA		Dom	yes		16	16q22.1	1009	T	"""cadherin 11, type 2, OB-cadherin (osteoblast)"""			M	USP6		aneurysmal bone cysts		1	Substitution - Missense(1)		lung(1)	lung(10)|ovary(3)|skin(1)	14						c.(1456-1458)CCC>TCC		cadherin 11, type 2 preproprotein							109.0	92.0	97.0					16																	65005902		2203	4300	6503	SO:0001583	missense	1009				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr16:65005902G>A	D21255	CCDS10803.1	16q21	2010-01-26			ENSG00000140937	ENSG00000140937		"""Cadherins / Major cadherins"""	1750	protein-coding gene	gene with protein product	"""OB-Cadherin"""	600023				9615235	Standard	NM_001797		Approved	OB, CAD11	uc002eoi.3	P55287	OTTHUMG00000137494	ENST00000268603.4:c.1456C>T	16.37:g.65005902G>A	ENSP00000268603:p.Pro486Ser	TSP Lung(24;0.17)				CDH11_uc010cdn.2_Intron|CDH11_uc002eoj.2_Missense_Mutation_p.P486S|CDH11_uc010vin.1_Missense_Mutation_p.P360S	p.P486S	NM_001797	NP_001788	P55287	CAD11_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.205)	10	1890	-		Ovarian(137;0.0973)	486			Cadherin 4.|Extracellular (Potential).		A8K5D6|A8MZC8|B7WP28|Q15065|Q15066|Q9UQ93|Q9UQ94	Missense_Mutation	SNP	ENST00000268603.4	37	c.1456C>T	CCDS10803.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.815509	0.90790	.	.	ENSG00000140937	ENST00000268603;ENST00000394156;ENST00000538390	T;D	0.85088	-0.64;-1.94	5.91	5.91	0.95273	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.96340	0.8806	H	0.99582	4.64	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.983;0.994	D	0.97801	1.0244	10	0.87932	D	0	.	19.2845	0.94065	0.0:0.0:1.0:0.0	.	486;486	P55287-2;P55287	.;CAD11_HUMAN	S	486;486;469	ENSP00000268603:P486S;ENSP00000377711:P486S	ENSP00000268603:P486S	P	-	1	0	CDH11	63563403	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.397000	0.97276	2.813000	0.96785	0.655000	0.94253	CCC		0.483	CDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268755.1	NM_033664		12	7	0	0	0	0.000978	0	12	7				
CALB2	794	broad.mit.edu	37	16	71392788	71392788	+	Splice_Site	SNP	C	C	G			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr16:71392788C>G	ENST00000302628.4	+	1	170	c.93C>G	c.(91-93)gaC>gaG	p.D31E	CALB2_ENST00000349553.5_Splice_Site_p.D31E	NM_001740.4	NP_001731.2	P22676	CALB2_HUMAN	calbindin 2	31	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cytosolic calcium ion homeostasis (GO:0051480)	cytoplasm (GO:0005737)|gap junction (GO:0005921)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.D31E(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18		Ovarian(137;0.125)				TTGACGCAGACGGTCAGTAAA	0.647																																							uc002faa.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(91-93)GAC>GAG		calbindin 2 isoform 1							30.0	29.0	29.0					16																	71392788		2198	4300	6498	SO:0001630	splice_region_variant	794						calcium ion binding	g.chr16:71392788C>G	X56667	CCDS10899.1	16q22.2	2013-01-10	2008-05-19		ENSG00000172137	ENSG00000172137		"""EF-hand domain containing"""	1435	protein-coding gene	gene with protein product	"""calretinin"""	114051	"""calbindin 2, 29kDa (calretinin)"""			1906795	Standard	NM_001740		Approved	CAL2	uc002faa.4	P22676	OTTHUMG00000137589	ENST00000302628.4:c.94+1C>G	16.37:g.71392788C>G						CALB2_uc010vme.1_RNA|CALB2_uc002fac.3_Missense_Mutation_p.D31E	p.D31E	NM_001740	NP_001731	P22676	CALB2_HUMAN			1	163	+		Ovarian(137;0.125)	31			1 (Probable).|EF-hand 1.		A8K4Y1|Q53HD2|Q96BK4	Missense_Mutation	SNP	ENST00000302628.4	37	c.93C>G	CCDS10899.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.522541	0.85600	.	.	ENSG00000172137	ENST00000349553;ENST00000302628	T;T	0.77489	-1.1;-1.1	5.37	5.37	0.77165	EF-hand-like domain (1);	0.092642	0.64402	D	0.000001	D	0.87943	0.6305	M	0.92026	3.265	0.80722	D	1	P;P	0.45078	0.85;0.555	P;P	0.57776	0.827;0.638	D	0.89165	0.3533	10	0.59425	D	0.04	-19.6636	10.173	0.42922	0.0:0.9094:0.0:0.0906	.	31;31	A6NER6;P22676	.;CALB2_HUMAN	E	31	ENSP00000340294:D31E;ENSP00000307508:D31E	ENSP00000307508:D31E	D	+	3	2	CALB2	69950289	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	2.228000	0.42981	2.508000	0.84585	0.563000	0.77884	GAC		0.647	CALB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268988.1	NM_001740	Missense_Mutation	7	6	0	0	0	0.001984	0	7	6				
ZFHX3	463	broad.mit.edu	37	16	72834018	72834018	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr16:72834018G>C	ENST00000268489.5	-	8	4547	c.3875C>G	c.(3874-3876)cCt>cGt	p.P1292R	ZFHX3_ENST00000397992.5_Missense_Mutation_p.P378R	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	1292					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.P1292R(1)		NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				CACCATCTCAGGGGTGGTCAC	0.453																																							uc002fck.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)	4						c.(3874-3876)CCT>CGT		zinc finger homeobox 3 isoform A							69.0	64.0	66.0					16																	72834018		2198	4300	6498	SO:0001583	missense	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72834018G>C	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.3875C>G	16.37:g.72834018G>C	ENSP00000268489:p.Pro1292Arg					ZFHX3_uc002fcl.2_Missense_Mutation_p.P378R	p.P1292R	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN			8	4548	-		Ovarian(137;0.13)	1292					D3DWS8|O15101|Q13719	Missense_Mutation	SNP	ENST00000268489.5	37	c.3875C>G	CCDS10908.1	.	.	.	.	.	.	.	.	.	.	G	13.78	2.338704	0.41398	.	.	ENSG00000140836	ENST00000268489;ENST00000397992	T;T	0.75367	-0.89;-0.93	5.65	5.65	0.86999	.	0.000000	0.49916	D	0.000133	D	0.83008	0.5161	L	0.47190	1.495	0.58432	D	0.999999	D	0.65815	0.995	D	0.66716	0.946	D	0.83835	0.0254	10	0.72032	D	0.01	.	19.7273	0.96170	0.0:0.0:1.0:0.0	.	1292	Q15911	ZFHX3_HUMAN	R	1292;378	ENSP00000268489:P1292R;ENSP00000438926:P378R	ENSP00000268489:P1292R	P	-	2	0	ZFHX3	71391519	1.000000	0.71417	0.979000	0.43373	0.645000	0.38454	6.977000	0.76141	2.643000	0.89663	0.557000	0.71058	CCT		0.453	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		14	35	0	0	0	0.00245	0	14	35				
SLC43A2	124935	broad.mit.edu	37	17	1494602	1494602	+	Missense_Mutation	SNP	T	T	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr17:1494602T>A	ENST00000301335.5	-	8	980	c.892A>T	c.(892-894)Acc>Tcc	p.T298S	SLC43A2_ENST00000382147.4_Missense_Mutation_p.T298S|SLC43A2_ENST00000574274.1_5'UTR|SLC43A2_ENST00000571650.1_Missense_Mutation_p.T298S|SLC43A2_ENST00000412517.3_Missense_Mutation_p.T161S	NM_001284498.1|NM_001284499.1	NP_001271427.1|NP_001271428.1	Q8N370	LAT4_HUMAN	solute carrier family 43 (amino acid system L transporter), member 2	298					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	L-amino acid transmembrane transporter activity (GO:0015179)	p.T298S(1)		endometrium(4)|large_intestine(4)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (25;0.0883)		AGGTCGACGGTGGACAGGCAC	0.692																																							uc002fsv.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(892-894)ACC>TCC		solute carrier family 43, member 2							63.0	60.0	61.0					17																	1494602		2203	4300	6503	SO:0001583	missense	124935				cellular nitrogen compound metabolic process|ion transport	integral to membrane|plasma membrane		g.chr17:1494602T>A	BC027923	CCDS11006.1, CCDS67107.1, CCDS67108.1	17p13.3	2013-07-17	2013-07-17		ENSG00000167703	ENSG00000167703		"""Solute carriers"""	23087	protein-coding gene	gene with protein product		610791				23268354	Standard	NM_001284498		Approved	MGC34680	uc002fsv.3	Q8N370	OTTHUMG00000090345	ENST00000301335.5:c.892A>T	17.37:g.1494602T>A	ENSP00000301335:p.Thr298Ser					SLC43A2_uc002fsu.2_Missense_Mutation_p.T298S|SLC43A2_uc002fsw.2_Missense_Mutation_p.T298S|SLC43A2_uc002fsx.2_Missense_Mutation_p.T298S|SLC43A2_uc010vqo.1_Missense_Mutation_p.T161S	p.T298S	NM_152346	NP_689559	Q8N370	LAT4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0883)	8	981	-			298					B7Z6X9|C9JNU8|D3DTH9|Q5CD75|Q6IPM1|Q8NBX1|Q8NC21|Q8WZ00	Missense_Mutation	SNP	ENST00000301335.5	37	c.892A>T	CCDS11006.1	.	.	.	.	.	.	.	.	.	.	T	16.63	3.175372	0.57692	.	.	ENSG00000167703	ENST00000301335;ENST00000382147;ENST00000412517	T;T;T	0.32023	1.93;1.94;1.47	6.07	6.07	0.98685	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	T	0.41026	0.1141	L	0.28694	0.88	0.58432	D	0.999997	P;D;B;B	0.71674	0.884;0.998;0.024;0.019	P;D;B;B	0.80764	0.636;0.994;0.048;0.061	T	0.11891	-1.0569	10	0.08381	T	0.77	-27.9257	16.6288	0.85011	0.0:0.0:0.0:1.0	.	161;298;298;298	B7Z6X9;Q8N370-2;Q8N370;Q8N370-3	.;.;LAT4_HUMAN;.	S	298;298;161	ENSP00000301335:T298S;ENSP00000371582:T298S;ENSP00000408284:T161S	ENSP00000301335:T298S	T	-	1	0	SLC43A2	1441352	1.000000	0.71417	0.998000	0.56505	0.887000	0.51463	7.502000	0.81614	2.326000	0.78906	0.533000	0.62120	ACC		0.692	SLC43A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206717.4	NM_152346		23	29	0	0	0	0.00333	0	23	29				
PITPNM3	83394	broad.mit.edu	37	17	6364785	6364785	+	Missense_Mutation	SNP	T	T	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr17:6364785T>A	ENST00000262483.8	-	18	2485	c.2398A>T	c.(2398-2400)Aac>Tac	p.N800Y	PITPNM3_ENST00000421306.3_Missense_Mutation_p.N764Y|PITPNM3_ENST00000576664.1_5'UTR	NM_031220.3	NP_112497.2	Q9BZ71	PITM3_HUMAN	PITPNM family member 3	800					phosphatidylinositol metabolic process (GO:0046488)|phospholipid transport (GO:0015914)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)	calcium ion binding (GO:0005509)|lipid binding (GO:0008289)|phosphatidylinositol transporter activity (GO:0008526)|receptor tyrosine kinase binding (GO:0030971)	p.N800Y(1)		autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(3)|skin(2)	36				Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)		TGTGGGAAGTTGTGCTGGGAC	0.602																																							uc002gdd.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(2)	4						c.(2398-2400)AAC>TAC		PITPNM family member 3 isoform 1							181.0	163.0	169.0					17																	6364785		2203	4300	6503	SO:0001583	missense	83394				phosphatidylinositol metabolic process	endomembrane system|integral to membrane	calcium ion binding|lipid binding|phosphatidylinositol transporter activity|receptor tyrosine kinase binding	g.chr17:6364785T>A	AF334586	CCDS11076.1, CCDS54080.1	17p13	2013-07-18	2013-07-18	2013-07-18	ENSG00000091622	ENSG00000091622		"""GPCR / Class A : Chemokine receptors : Atypical"""	21043	protein-coding gene	gene with protein product	"""atypical chemokine receptor 6"""	608921	"""cone rod dystrophy 5"""	CORD5		10022914	Standard	NM_031220		Approved	NIR1, RDGBA3, ACKR6	uc002gdd.4	Q9BZ71	OTTHUMG00000102039	ENST00000262483.8:c.2398A>T	17.37:g.6364785T>A	ENSP00000262483:p.Asn800Tyr					PITPNM3_uc010cln.2_Missense_Mutation_p.N764Y|PITPNM3_uc010clm.2_Missense_Mutation_p.N283Y|PITPNM3_uc002gdc.3_Missense_Mutation_p.N391Y	p.N800Y	NM_031220	NP_112497	Q9BZ71	PITM3_HUMAN		Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)	18	2549	-			800					A1A5D0|F8WEW5|Q59GH9|Q9NPQ4	Missense_Mutation	SNP	ENST00000262483.8	37	c.2398A>T	CCDS11076.1	.	.	.	.	.	.	.	.	.	.	T	24.7	4.560053	0.86335	.	.	ENSG00000091622	ENST00000262483;ENST00000421306	T;T	0.77229	-1.08;-1.08	4.94	4.94	0.65067	HAD-like domain (2);LNS2, Lipin/Ned1/Smp2 (2);	0.000000	0.85682	D	0.000000	D	0.88826	0.6542	M	0.89478	3.035	0.58432	D	0.999999	D;D	0.89917	1.0;0.99	D;D	0.75020	0.985;0.923	D	0.90719	0.4633	10	0.87932	D	0	.	12.5282	0.56098	0.0:0.0:0.0:1.0	.	764;800	F8WEW5;Q9BZ71	.;PITM3_HUMAN	Y	800;764	ENSP00000262483:N800Y;ENSP00000407882:N764Y	ENSP00000262483:N800Y	N	-	1	0	PITPNM3	6305509	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.942000	0.87708	1.858000	0.53909	0.379000	0.24179	AAC		0.602	PITPNM3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219824.2	NM_031220		47	67	0	0	0	0.00361	0	47	67				
DLG4	1742	broad.mit.edu	37	17	7095232	7095232	+	Silent	SNP	G	G	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr17:7095232G>A	ENST00000399506.2	-	18	2147	c.1956C>T	c.(1954-1956)ccC>ccT	p.P652P	DLG4_ENST00000302955.6_Silent_p.P649P|DLG4_ENST00000399510.2_Silent_p.P695P			P78352	DLG4_HUMAN	discs, large homolog 4 (Drosophila)	652	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|axon guidance (GO:0007411)|dendritic spine morphogenesis (GO:0060997)|establishment of protein localization (GO:0045184)|learning (GO:0007612)|locomotory exploration behavior (GO:0035641)|negative regulation of receptor internalization (GO:0002091)|nervous system development (GO:0007399)|neuromuscular process controlling balance (GO:0050885)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synaptic transmission (GO:0050806)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|receptor localization to synapse (GO:0097120)|regulation of grooming behavior (GO:2000821)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|signal transduction (GO:0007165)|social behavior (GO:0035176)|synaptic transmission (GO:0007268)|synaptic vesicle maturation (GO:0016188)|vocalization behavior (GO:0071625)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|dendrite cytoplasm (GO:0032839)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|juxtaparanode region of axon (GO:0044224)|neuron projection terminus (GO:0044306)|neuron spine (GO:0044309)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)	acetylcholine receptor binding (GO:0033130)|beta-1 adrenergic receptor binding (GO:0031697)|D1 dopamine receptor binding (GO:0031748)|ionotropic glutamate receptor binding (GO:0035255)|P2Y1 nucleotide receptor binding (GO:0031812)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|protein phosphatase binding (GO:0019903)|scaffold protein binding (GO:0097110)	p.P649P(1)|p.P695P(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)	18					Guanidine(DB00536)	CCAGGGAGCGGGGGCGGATGA	0.667																																							uc002get.3		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)|breast(1)	2						c.(2083-2085)CCC>CCT		post-synaptic density protein 95 isoform 1							42.0	51.0	48.0					17																	7095232		2000	4161	6161	SO:0001819	synonymous_variant	1742				axon guidance|learning|protein complex assembly|protein localization to synapse|signal transduction|synaptic transmission	cell junction|cortical cytoskeleton|endocytic vesicle membrane|neuron spine|postsynaptic density|postsynaptic membrane|synaptosome	protein binding|protein C-terminus binding	g.chr17:7095232G>A	U83192	CCDS45599.1, CCDS45600.1	17p13.1	2008-12-15	2001-12-04		ENSG00000132535	ENSG00000132535			2903	protein-coding gene	gene with protein product		602887				9286702	Standard	NM_001128827		Approved	PSD-95, PSD95, SAP90, SAP-90	uc010cly.3	P78352	OTTHUMG00000134327	ENST00000399506.2:c.1956C>T	17.37:g.7095232G>A						DLG4_uc010vtm.1_Intron|DLG4_uc010vtn.1_Silent_p.P592P|DLG4_uc010cly.2_Silent_p.P649P|DLG4_uc010vto.1_Silent_p.P692P	p.P695P	NM_001365	NP_001356	P78352	DLG4_HUMAN			20	3286	-			652			Guanylate kinase-like.		B7Z1S1|G5E939|Q92941|Q9UKK8	Silent	SNP	ENST00000399506.2	37	c.2085C>T																																																																																					0.667	DLG4-002	KNOWN	non_canonical_TEC|not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000259419.2	NM_001365		4	94	0	0	0	0.009096	0	4	94				
DLG4	1742	broad.mit.edu	37	17	7095235	7095235	+	Silent	SNP	G	G	C			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr17:7095235G>C	ENST00000399506.2	-	18	2144	c.1953C>G	c.(1951-1953)cgC>cgG	p.R651R	DLG4_ENST00000302955.6_Silent_p.R648R|DLG4_ENST00000399510.2_Silent_p.R694R			P78352	DLG4_HUMAN	discs, large homolog 4 (Drosophila)	651	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|axon guidance (GO:0007411)|dendritic spine morphogenesis (GO:0060997)|establishment of protein localization (GO:0045184)|learning (GO:0007612)|locomotory exploration behavior (GO:0035641)|negative regulation of receptor internalization (GO:0002091)|nervous system development (GO:0007399)|neuromuscular process controlling balance (GO:0050885)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synaptic transmission (GO:0050806)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|receptor localization to synapse (GO:0097120)|regulation of grooming behavior (GO:2000821)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|signal transduction (GO:0007165)|social behavior (GO:0035176)|synaptic transmission (GO:0007268)|synaptic vesicle maturation (GO:0016188)|vocalization behavior (GO:0071625)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|dendrite cytoplasm (GO:0032839)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|juxtaparanode region of axon (GO:0044224)|neuron projection terminus (GO:0044306)|neuron spine (GO:0044309)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)	acetylcholine receptor binding (GO:0033130)|beta-1 adrenergic receptor binding (GO:0031697)|D1 dopamine receptor binding (GO:0031748)|ionotropic glutamate receptor binding (GO:0035255)|P2Y1 nucleotide receptor binding (GO:0031812)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|protein phosphatase binding (GO:0019903)|scaffold protein binding (GO:0097110)	p.R694R(1)|p.R648R(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)	18					Guanidine(DB00536)	GGGAGCGGGGGCGGATGAAGA	0.672																																							uc002get.3		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)|breast(1)	2						c.(2080-2082)CGC>CGG		post-synaptic density protein 95 isoform 1							41.0	51.0	48.0					17																	7095235		2005	4161	6166	SO:0001819	synonymous_variant	1742				axon guidance|learning|protein complex assembly|protein localization to synapse|signal transduction|synaptic transmission	cell junction|cortical cytoskeleton|endocytic vesicle membrane|neuron spine|postsynaptic density|postsynaptic membrane|synaptosome	protein binding|protein C-terminus binding	g.chr17:7095235G>C	U83192	CCDS45599.1, CCDS45600.1	17p13.1	2008-12-15	2001-12-04		ENSG00000132535	ENSG00000132535			2903	protein-coding gene	gene with protein product		602887				9286702	Standard	NM_001128827		Approved	PSD-95, PSD95, SAP90, SAP-90	uc010cly.3	P78352	OTTHUMG00000134327	ENST00000399506.2:c.1953C>G	17.37:g.7095235G>C						DLG4_uc010vtm.1_Intron|DLG4_uc010vtn.1_Silent_p.R591R|DLG4_uc010cly.2_Silent_p.R648R|DLG4_uc010vto.1_Silent_p.R691R	p.R694R	NM_001365	NP_001356	P78352	DLG4_HUMAN			20	3283	-			651			Guanylate kinase-like.		B7Z1S1|G5E939|Q92941|Q9UKK8	Silent	SNP	ENST00000399506.2	37	c.2082C>G																																																																																					0.672	DLG4-002	KNOWN	non_canonical_TEC|not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000259419.2	NM_001365		4	96	0	0	0	0.009096	0	4	96				
CTC1	80169	broad.mit.edu	37	17	8135134	8135134	+	Splice_Site	SNP	C	C	A	rs199861310		TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr17:8135134C>A	ENST00000315684.8	-	14	2393		c.e14-1			NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN	CTS telomere maintenance complex component 1						bone marrow development (GO:0048539)|cellular response to DNA damage stimulus (GO:0006974)|hematopoietic stem cell proliferation (GO:0071425)|multicellular organism growth (GO:0035264)|positive regulation of DNA replication (GO:0045740)|positive regulation of fibroblast proliferation (GO:0048146)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|replicative senescence (GO:0090399)|spleen development (GO:0048536)|telomere maintenance (GO:0000723)|telomere maintenance via telomere lengthening (GO:0010833)|thymus development (GO:0048538)	nuclear chromosome, telomeric region (GO:0000784)|nucleus (GO:0005634)|Stn1-Ten1 complex (GO:0070188)	single-stranded DNA binding (GO:0003697)	p.?(1)		NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						TGAGGTGAACCTGGGAGGATG	0.572																																							uc002gkq.3		NA																	1	Unknown(1)		lung(1)		0						c.e14-1		alpha accessory factor 132							74.0	82.0	80.0					17																	8135134		1970	4158	6128	SO:0001630	splice_region_variant	80169				positive regulation of DNA replication|telomere maintenance	Stn1-Ten1 complex	protein binding|single-stranded DNA binding	g.chr17:8135134C>A	AL831955	CCDS42259.1	17p13.1	2011-02-21	2011-02-21	2011-02-21	ENSG00000178971	ENSG00000178971			26169	protein-coding gene	gene with protein product	"""conserved telomere maintenance component 1"", ""alpha accessory factor 132"", ""conserved telomere capping protein 1"""	613129	"""tmp494178"", ""chromosome 17 open reading frame 68"""	C17orf68		19854130, 19854131	Standard	NM_025099		Approved	FLJ22170, AAF132	uc002gkq.4	Q2NKJ3		ENST00000315684.8:c.2386-1G>T	17.37:g.8135134C>A						C17orf68_uc010cnv.2_Splice_Site	p.V796_splice	NM_025099	NP_079375	Q2NKJ3	CTC1_HUMAN			14	2445	-								B3KR66|C9JEX5|Q1PCD1|Q2TBE3|Q8N3S6|Q9H6L0	Splice_Site	SNP	ENST00000315684.8	37	c.2386_splice	CCDS42259.1	.	.	.	.	.	.	.	.	.	.	C	10.50	1.368081	0.24771	.	.	ENSG00000178971	ENST00000315684;ENST00000449476	.	.	.	5.8	5.8	0.92144	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.561	0.76244	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CTC1	8075859	1.000000	0.71417	0.965000	0.40720	0.089000	0.18198	4.199000	0.58426	2.755000	0.94549	0.655000	0.94253	.		0.572	CTC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442012.1	NM_025099	Intron	4	47	1	0	0.00909568	0.009096	0.00956356	4	47				
PIK3R5	23533	broad.mit.edu	37	17	8809052	8809052	+	Silent	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr17:8809052G>T	ENST00000447110.1	-	4	331	c.207C>A	c.(205-207)gtC>gtA	p.V69V	PIK3R5_ENST00000581552.1_Silent_p.V69V|PIK3R5_ENST00000584803.1_Silent_p.V69V	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	69	Heterodimerization. {ECO:0000250}.				blood coagulation (GO:0007596)|cell death (GO:0008219)|G-protein coupled receptor signaling pathway (GO:0007186)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|small molecule metabolic process (GO:0044281)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|G-protein beta/gamma-subunit complex binding (GO:0031683)	p.V69V(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						CCTTCTCCTGGACCTGTGGAG	0.562																																					NSCLC(18;589 615 7696 20311 50332)	NSCLC(18;589 615 7696 20311 50332)	uc002glt.2		NA																	1	Substitution - coding silent(1)		lung(1)	breast(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5						c.(205-207)GTC>GTA		phosphoinositide-3-kinase, regulatory subunit 5							54.0	44.0	47.0					17																	8809052		2201	4295	6496	SO:0001819	synonymous_variant	23533				platelet activation	cytosol|membrane|nucleus		g.chr17:8809052G>T	AF128881	CCDS11147.1, CCDS73986.1	17p13.1	2011-10-13	2008-02-04		ENSG00000141506	ENSG00000141506			30035	protein-coding gene	gene with protein product		611317				12507995	Standard	NM_014308		Approved	P101-PI3K, p101	uc002glt.3	Q8WYR1	OTTHUMG00000108197	ENST00000447110.1:c.207C>A	17.37:g.8809052G>T						PIK3R5_uc010vuz.1_Silent_p.V69V|PIK3R5_uc002glu.3_5'UTR|PIK3R5_uc010coa.1_Silent_p.V69V|PIK3R5_uc010cob.1_5'UTR	p.V69V	NM_014308	NP_055123	Q8WYR1	PI3R5_HUMAN			4	274	-			69			Heterodimerization (By similarity).		B0LPH4|D3DTS3|Q5G936|Q5G938|Q5G939|Q8IZ23|Q9Y2Y2	Silent	SNP	ENST00000447110.1	37	c.207C>A	CCDS11147.1																																																																																				0.562	PIK3R5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000227003.2	NM_014308		4	4	1	0	0.00116845	0.001168	0.00127037	4	4				
MYH2	4620	broad.mit.edu	37	17	10430338	10430338	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr17:10430338G>C	ENST00000245503.5	-	29	4291	c.3907C>G	c.(3907-3909)Ctg>Gtg	p.L1303V	MYH2_ENST00000397183.2_Missense_Mutation_p.L1303V|RP11-799N11.1_ENST00000399342.2_RNA|MYH2_ENST00000532183.2_Intron|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1303					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.L1303V(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TGAGACACCAGAGCTTCCTTT	0.383																																							uc010coi.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1)	14						c.(3907-3909)CTG>GTG		myosin heavy chain IIa							86.0	82.0	83.0					17																	10430338		2203	4300	6503	SO:0001583	missense	4620				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10430338G>C		CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	7572	protein-coding gene	gene with protein product		160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.3907C>G	17.37:g.10430338G>C	ENSP00000245503:p.Leu1303Val					uc002gml.1_Intron|MYH2_uc002gmp.3_Missense_Mutation_p.L1303V|MYH2_uc010coj.2_Intron	p.L1303V	NM_001100112	NP_001093582	Q9UKX2	MYH2_HUMAN			29	4035	-			1303			Potential.		A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP	ENST00000245503.5	37	c.3907C>G	CCDS11156.1	.	.	.	.	.	.	.	.	.	.	G	12.46	1.945574	0.34377	.	.	ENSG00000125414	ENST00000245503;ENST00000397183	T;T	0.78707	-1.2;-1.2	4.93	0.539	0.17156	Myosin tail (1);	0.000000	0.30920	U	0.008610	T	0.73305	0.3570	M	0.67397	2.05	0.30557	N	0.76485	B	0.15930	0.015	B	0.33846	0.171	T	0.68577	-0.5372	10	0.56958	D	0.05	.	4.8711	0.13633	0.3629:0.0:0.501:0.1361	.	1303	Q9UKX2	MYH2_HUMAN	V	1303	ENSP00000245503:L1303V;ENSP00000380367:L1303V	ENSP00000245503:L1303V	L	-	1	2	MYH2	10371063	0.000000	0.05858	0.711000	0.30485	0.857000	0.48899	-0.424000	0.07025	0.244000	0.21351	0.563000	0.77884	CTG		0.383	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		13	39	0	0	0	0.001855	0	13	39				
DNAH9	1770	broad.mit.edu	37	17	11865393	11865393	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr17:11865393C>A	ENST00000262442.4	+	68	13121	c.13053C>A	c.(13051-13053)aaC>aaA	p.N4351K	DNAH9_ENST00000608377.1_Missense_Mutation_p.N663K|RP11-1096G20.5_ENST00000580270.1_RNA|DNAH9_ENST00000454412.2_Missense_Mutation_p.N4275K|DNAH9_ENST00000396001.2_3'UTR	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	4351					cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.N4351K(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GCTTCTTCAACCCCCAGTCGT	0.547																																							uc002gne.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20						c.(13051-13053)AAC>AAA		dynein, axonemal, heavy chain 9 isoform 2							74.0	67.0	69.0					17																	11865393		2203	4300	6503	SO:0001583	missense	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11865393C>A	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.13053C>A	17.37:g.11865393C>A	ENSP00000262442:p.Asn4351Lys					DNAH9_uc010coo.2_Missense_Mutation_p.N3569K|DNAH9_uc002gnf.2_Missense_Mutation_p.N663K	p.N4351K	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	68	13121	+		Breast(5;0.0122)|all_epithelial(5;0.131)	4351					A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.13053C>A	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	C	17.86	3.493634	0.64186	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703;ENST00000396001	T;T;T	0.09817	2.94;2.94;2.94	5.04	1.92	0.25849	Dynein heavy chain (1);	0.145751	0.64402	D	0.000013	T	0.42108	0.1188	H	0.98980	4.39	0.51482	D	0.999928	D	0.60575	0.988	P	0.59012	0.85	T	0.57768	-0.7754	10	0.87932	D	0	.	9.3861	0.38345	0.0:0.7081:0.0:0.2919	.	4351	Q9NYC9	DYH9_HUMAN	K	4351;4275;2857;663	ENSP00000262442:N4351K;ENSP00000414874:N4275K;ENSP00000379323:N663K	ENSP00000262442:N4351K	N	+	3	2	DNAH9	11806118	0.974000	0.33945	1.000000	0.80357	0.998000	0.95712	0.212000	0.17497	0.722000	0.32252	0.655000	0.94253	AAC		0.547	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		19	27	1	0	1.33834e-09	0.007413	1.81403e-09	19	27				
TVP23C	201158	broad.mit.edu	37	17	15406305	15406305	+	Missense_Mutation	SNP	T	T	G	rs141163711		TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr17:15406305T>G	ENST00000225576.3	-	6	799	c.704A>C	c.(703-705)cAg>cCg	p.Q235P	TVP23C-CDRT4_ENST00000522212.2_Intron|TVP23C_ENST00000519970.1_Intron	NM_145301.2	NP_660344.2	Q96ET8	TV23C_HUMAN	trans-golgi network vesicle protein 23 homolog C (S. cerevisiae)	235						integral component of membrane (GO:0016021)		p.Q235P(1)									GGGCGCCATCTGTTGGCAGTT	0.587																																							uc002goq.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(703-705)CAG>CCG		hypothetical protein LOC201158 isoform 1							26.0	30.0	28.0					17																	15406305		2203	4300	6503	SO:0001583	missense	201158					integral to membrane		g.chr17:15406305T>G	BC011952	CCDS11170.1, CCDS45617.1	17p12	2012-11-29	2012-11-29	2012-11-29	ENSG00000175106	ENSG00000175106			30453	protein-coding gene	gene with protein product			"""family with sequence similarity 18, member B2"""	FAM18B2			Standard	NM_001135036		Approved	MGC8763	uc002goq.2	Q96ET8	OTTHUMG00000171461	ENST00000225576.3:c.704A>C	17.37:g.15406305T>G	ENSP00000225576:p.Gln235Pro					CDRT4_uc010vvw.1_Intron|FAM18B2_uc010vvx.1_Intron	p.Q235P	NM_145301	NP_660344	Q96ET8	F18B2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0872)|BRCA - Breast invasive adenocarcinoma(8;0.0581)|READ - Rectum adenocarcinoma(1115;0.0967)	6	887	-			235					Q3LIC7	Missense_Mutation	SNP	ENST00000225576.3	37	c.704A>C	CCDS11170.1	.	.	.	.	.	.	.	.	.	.	T	13.81	2.348178	0.41599	.	.	ENSG00000175106	ENST00000225576	T	0.26518	1.73	3.65	2.54	0.30619	.	34.810200	0.00166	N	0.000001	T	0.27098	0.0664	N	0.14661	0.345	0.80722	D	1	D	0.61080	0.989	P	0.53185	0.72	T	0.19353	-1.0308	10	0.62326	D	0.03	-33.3475	6.0157	0.19601	0.0:0.1193:0.0:0.8807	.	235	Q96ET8	F18B2_HUMAN	P	235	ENSP00000225576:Q235P	ENSP00000225576:Q235P	Q	-	2	0	FAM18B2	15347030	0.932000	0.31603	0.718000	0.30602	0.101000	0.19017	1.117000	0.31234	0.752000	0.32923	0.377000	0.23210	CAG		0.587	TVP23C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000130705.2	NM_145301		7	21	0	0	0	0.001984	0	7	21				
ZNF287	57336	broad.mit.edu	37	17	16456684	16456684	+	Missense_Mutation	SNP	T	T	C	rs368927047		TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr17:16456684T>C	ENST00000395824.1	-	6	1389	c.772A>G	c.(772-774)Aag>Gag	p.K258E	ZNF287_ENST00000395825.3_Missense_Mutation_p.K258E			Q9HBT7	ZN287_HUMAN	zinc finger protein 287	251					positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokine biosynthetic process (GO:0042035)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K251E(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|prostate(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (92;0.083)		GTTTCTTCCTTTGTGAGTTTA	0.358																																							uc002gqi.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(772-774)AAG>GAG		zinc finger protein 287							105.0	110.0	108.0					17																	16456684		2164	4267	6431	SO:0001583	missense	57336				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr17:16456684T>C	AF217227	CCDS11179.2	17p11.2	2013-01-09			ENSG00000141040	ENSG00000141040		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13502	protein-coding gene	gene with protein product							Standard	NM_020653		Approved	ZKSCAN13, ZSCAN45	uc002gqi.2	Q9HBT7	OTTHUMG00000058993	ENST00000395824.1:c.772A>G	17.37:g.16456684T>C	ENSP00000379168:p.Lys258Glu						p.K258E	NM_020653	NP_065704	Q9HBT7	ZN287_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.083)	6	1225	-			251					Q6IAG1	Missense_Mutation	SNP	ENST00000395824.1	37	c.772A>G	CCDS11179.2	.	.	.	.	.	.	.	.	.	.	T	0.011	-1.700049	0.00725	.	.	ENSG00000141040	ENST00000395825;ENST00000395824	T;T	0.05786	3.39;3.39	4.35	3.3	0.37823	.	1.049510	0.07496	N	0.906436	T	0.04318	0.0119	N	0.19112	0.55	0.09310	N	1	B	0.12013	0.005	B	0.09377	0.004	T	0.37888	-0.9686	10	0.05436	T	0.98	.	9.2416	0.37500	0.0:0.0:0.2374:0.7626	.	251	Q9HBT7	ZN287_HUMAN	E	258	ENSP00000379169:K258E;ENSP00000379168:K258E	ENSP00000379168:K258E	K	-	1	0	ZNF287	16397409	0.000000	0.05858	0.002000	0.10522	0.321000	0.28281	0.413000	0.21148	1.093000	0.41377	0.477000	0.44152	AAG		0.358	ZNF287-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130504.1			70	70	0	0	0	0.00361	0	70	70				
KCNJ12	3768	broad.mit.edu	37	17	21318872	21318872	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr17:21318872C>A	ENST00000583088.1	+	3	1113	c.218C>A	c.(217-219)aCc>aAc	p.T73N	KCNJ12_ENST00000331718.5_Missense_Mutation_p.T73N	NM_021012.4	NP_066292.2	Q14500	KCJ12_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 12	73					muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart contraction (GO:0008016)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|intrinsic component of membrane (GO:0031224)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)	p.T73N(1)		NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	Dofetilide(DB00204)|Yohimbine(DB01392)	GACATGTTCACCACCTGTGTG	0.577										Prostate(3;0.18)																													uc002gyv.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(217-219)ACC>AAC		potassium inwardly-rectifying channel, subfamily	Dofetilide(DB00204)						216.0	135.0	162.0					17																	21318872		2203	4300	6503	SO:0001583	missense	3768				blood circulation|muscle contraction|regulation of heart contraction|synaptic transmission	integral to membrane	inward rectifier potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity	g.chr17:21318872C>A	L36069	CCDS11219.1	17p11.1	2011-07-05	2004-01-13		ENSG00000184185	ENSG00000184185		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6258	protein-coding gene	gene with protein product		602323	"""potassium inwardly-rectifying channel, subfamily J, inhibitor 1"""	KCNJN1		7859381, 12417321, 16382105	Standard	NM_021012		Approved	Kir2.2, Kir2.2v, IRK2, hIRK1	uc021tss.1	Q14500	OTTHUMG00000132039	ENST00000583088.1:c.218C>A	17.37:g.21318872C>A	ENSP00000463778:p.Thr73Asn	Prostate(3;0.18)					p.T73N	NM_021012	NP_066292	Q14500	IRK12_HUMAN		Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	3	923	+			73			Cytoplasmic (By similarity).		O43401|Q15756|Q8NG63	Missense_Mutation	SNP	ENST00000583088.1	37	c.218C>A	CCDS11219.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.429709	0.83776	.	.	ENSG00000184185	ENST00000331718	D	0.96396	-4.0	5.32	5.32	0.75619	Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);	0.000000	0.85682	D	0.000000	D	0.98504	0.9501	M	0.89840	3.065	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99544	1.0964	10	0.87932	D	0	.	19.0065	0.92852	0.0:1.0:0.0:0.0	.	73	Q14500	IRK12_HUMAN	N	73	ENSP00000328150:T73N	ENSP00000328150:T73N	T	+	2	0	KCNJ12	21259465	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.967000	0.70403	2.502000	0.84385	0.585000	0.79938	ACC		0.577	KCNJ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255060.2	NM_021012		9	50	1	0	2.17888e-05	0.006214	2.54784e-05	9	50				
KIAA0100	9703	broad.mit.edu	37	17	26955577	26955577	+	Splice_Site	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr17:26955577C>A	ENST00000528896.2	-	24	4374	c.4300G>T	c.(4300-4302)Gag>Tag	p.E1434*	KIAA0100_ENST00000389003.3_Splice_Site_p.E1291*|KIAA0100_ENST00000544884.1_Splice_Site_p.E1291*	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	1434						extracellular region (GO:0005576)		p.E1434*(1)		breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					GCAGAGAGCTCCTAAGAAACA	0.458																																							uc002hbu.2		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(2)|breast(1)|skin(1)	4						c.(4300-4302)GAG>TAG		hypothetical protein LOC9703 precursor							81.0	76.0	77.0					17																	26955577		2203	4300	6503	SO:0001630	splice_region_variant	9703					extracellular region		g.chr17:26955577C>A	D43947	CCDS32595.1	17q11.2	2012-11-29			ENSG00000007202	ENSG00000007202			28960	protein-coding gene	gene with protein product	"""cancer/testis antigen 101"", ""breast cancer overexpressed gene 1"""	610664				16289875	Standard	NM_014680		Approved	DKFZp686M0843, MGC111488, BCOX1, CT101, BCOX	uc002hbu.3	Q14667	OTTHUMG00000166587	ENST00000528896.2:c.4300-1G>T	17.37:g.26955577C>A							p.E1434*	NM_014680	NP_055495	Q14667	K0100_HUMAN			24	4399	-	Lung NSC(42;0.00431)		1434					A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Nonsense_Mutation	SNP	ENST00000528896.2	37	c.4300G>T	CCDS32595.1	.	.	.	.	.	.	.	.	.	.	C	45	11.892637	0.99615	.	.	ENSG00000007202	ENST00000005905;ENST00000389003;ENST00000528896;ENST00000544884	.	.	.	5.47	5.47	0.80525	.	0.156920	0.56097	D	0.000027	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10636	T	0.68	.	19.3285	0.94273	0.0:1.0:0.0:0.0	.	.	.	.	X	1434;1404;1434;1291	.	ENSP00000005905:E1434X	E	-	1	0	KIAA0100	23979704	1.000000	0.71417	1.000000	0.80357	0.743000	0.42351	6.760000	0.74939	2.575000	0.86900	0.655000	0.94253	GAG		0.458	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390571.3	NM_014680	Nonsense_Mutation	25	43	1	0	2.27525e-19	0.003954	3.91466e-19	25	43				
SLC6A4	6532	broad.mit.edu	37	17	28539837	28539837	+	Silent	SNP	C	C	T	rs201149719		TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr17:28539837C>T	ENST00000401766.2	-	8	1637	c.1125G>A	c.(1123-1125)tcG>tcA	p.S375S	SLC6A4_ENST00000261707.3_Silent_p.S375S			P31645	SC6A4_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 4	375					brain morphogenesis (GO:0048854)|cellular response to cGMP (GO:0071321)|cellular response to retinoic acid (GO:0071300)|circadian rhythm (GO:0007623)|memory (GO:0007613)|monoamine transport (GO:0015844)|negative regulation of cerebellar granule cell precursor proliferation (GO:0021941)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of organ growth (GO:0046621)|negative regulation of synaptic transmission, dopaminergic (GO:0032227)|positive regulation of cell cycle (GO:0045787)|positive regulation of gene expression (GO:0010628)|protein homooligomerization (GO:0051260)|protein oligomerization (GO:0051259)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)|response to toxic substance (GO:0009636)|serotonin transport (GO:0006837)|serotonin uptake (GO:0051610)|social behavior (GO:0035176)|sperm ejaculation (GO:0042713)|thalamus development (GO:0021794)|vasoconstriction (GO:0042310)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|cocaine binding (GO:0019811)|monoamine transmembrane transporter activity (GO:0008504)|Rab GTPase binding (GO:0017137)|serotonin transmembrane transporter activity (GO:0015222)|serotonin:sodium symporter activity (GO:0005335)	p.S375S(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4)	25					Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Desvenlafaxine(DB06700)|Dexfenfluramine(DB01191)|Dexmethylphenidate(DB06701)|Dextromethorphan(DB00514)|Dopamine(DB00988)|Doxepin(DB01142)|Duloxetine(DB00476)|Ephedra(DB01363)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Levomilnacipran(DB08918)|Loxapine(DB00408)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Milnacipran(DB04896)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Pethidine(DB00454)|Phentermine(DB00191)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Sertraline(DB01104)|Sibutramine(DB01105)|Tapentadol(DB06204)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vilazodone(DB06684)	TGACAAATCCCGAAACGAAGC	0.552																																							uc002hey.3		NA																	1	Substitution - coding silent(1)		lung(1)	skin(3)|ovary(1)	4						c.(1123-1125)TCG>TCA		solute carrier family 6 member 4	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832)						132.0	109.0	117.0					17																	28539837		2203	4300	6503	SO:0001819	synonymous_variant	6532				response to toxin|serotonin uptake|thalamus development	cytosol|endomembrane system|endosome membrane|membrane raft	actin filament binding|Rab GTPase binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity	g.chr17:28539837C>T	L05568	CCDS11256.1	17q11.2	2014-01-30	2013-07-19		ENSG00000108576	ENSG00000108576		"""Solute carriers"""	11050	protein-coding gene	gene with protein product	"""serotonin transporter 1"""	182138	"""solute carrier family 6 (neurotransmitter transporter, serotonin), member 4"", ""5-hydroxytryptamine (serotonin) transporter"", ""obsessive-compulsive disorder 1"""	HTT, OCD1		7681602, 19806148	Standard	NM_001045		Approved	5-HTT, SERT1	uc002hey.5	P31645	OTTHUMG00000132751	ENST00000401766.2:c.1125G>A	17.37:g.28539837C>T						SLC6A4_uc010csg.2_5'Flank	p.S375S	NM_001045	NP_001036	P31645	SC6A4_HUMAN			9	1669	-			375			Helical; Name=7; (Potential).		Q5EE02	Silent	SNP	ENST00000401766.2	37	c.1125G>A	CCDS11256.1																																																																																				0.552	SLC6A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256115.3	NM_001045		15	44	0	0	0	0.004007	0	15	44				
CPD	1362	broad.mit.edu	37	17	28772927	28772927	+	Missense_Mutation	SNP	G	G	T	rs200096968		TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr17:28772927G>T	ENST00000225719.4	+	12	2838	c.2762G>T	c.(2761-2763)cGc>cTc	p.R921L	CPD_ENST00000543464.2_Missense_Mutation_p.R674L	NM_001304.4	NP_001295.2	O75976	CBPD_HUMAN	carboxypeptidase D	921	Carboxypeptidase-like 3.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	metallocarboxypeptidase activity (GO:0004181)|serine-type carboxypeptidase activity (GO:0004185)|zinc ion binding (GO:0008270)	p.R921L(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1)	36						CTCATGTTACGCTCCTCCTCA	0.408																																							uc002hfb.1		NA																	1	Substitution - Missense(1)		lung(1)	liver(1)|skin(1)	2						c.(2761-2763)CGC>CTC		carboxypeptidase D precursor							96.0	96.0	96.0					17																	28772927		2203	4300	6503	SO:0001583	missense	1362				proteolysis	integral to membrane	metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding	g.chr17:28772927G>T	U65090	CCDS11257.1, CCDS56025.1	17q11.2	2012-02-10			ENSG00000108582	ENSG00000108582	3.4.17.22		2301	protein-coding gene	gene with protein product	"""metallocarboxypeptidase D"""	603102				9628828, 9355738	Standard	NM_001304		Approved	GP180	uc002hfb.2	O75976	OTTHUMG00000132797	ENST00000225719.4:c.2762G>T	17.37:g.28772927G>T	ENSP00000225719:p.Arg921Leu					CPD_uc010wbo.1_Missense_Mutation_p.R674L|CPD_uc010wbp.1_RNA	p.R921L	NM_001304	NP_001295	O75976	CBPD_HUMAN			12	2777	+			921			Extracellular (Potential).|Carboxypeptidase-like 3.		B7Z7T9|B7ZAU4|F5GZH6|O15377|Q86SH9|Q86XE6	Missense_Mutation	SNP	ENST00000225719.4	37	c.2762G>T	CCDS11257.1	.	.	.	.	.	.	.	.	.	.	G	10.17	1.275495	0.23307	.	.	ENSG00000108582	ENST00000225719;ENST00000543464	T;T	0.19250	2.16;3.23	5.32	2.22	0.28083	.	1.252340	0.05152	N	0.496166	T	0.14917	0.0360	N	0.14661	0.345	0.19575	N	0.999967	B;B	0.16802	0.0;0.019	B;B	0.16289	0.002;0.015	T	0.34775	-0.9815	10	0.27785	T	0.31	.	11.2897	0.49244	0.0751:0.5374:0.3875:0.0	.	674;921	F5GZH6;O75976	.;CBPD_HUMAN	L	921;674	ENSP00000225719:R921L;ENSP00000444443:R674L	ENSP00000225719:R921L	R	+	2	0	CPD	25797053	0.001000	0.12720	0.620000	0.29132	0.967000	0.64934	0.419000	0.21247	0.325000	0.23359	-0.959000	0.02639	CGC		0.408	CPD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256214.3	NM_001304		15	89	1	0	9.16793e-09	0.00499	1.20898e-08	15	89				
NF1	4763	broad.mit.edu	37	17	29654692	29654692	+	Missense_Mutation	SNP	A	A	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr17:29654692A>T	ENST00000358273.4	+	38	5827	c.5444A>T	c.(5443-5445)cAg>cTg	p.Q1815L	NF1_ENST00000581113.2_3'UTR|NF1_ENST00000356175.3_Missense_Mutation_p.Q1794L	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1815	Lipid binding.				actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(3)|p.Q1815L(2)|p.H1814fs*43(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TTCATGCACCAGGAGTGTGAA	0.488			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																													uc002hgg.2		NA	yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	D|Mis|N|F|S|O	neurofibromatosis type 1 gene			O		neurofibroma|glioma	neurofibroma|glioma		14	Whole gene deletion(8)|Unknown(3)|Substitution - Missense(2)|Deletion - Frameshift(1)	p.Q1815*(1)|p.H1814fs*43(1)	soft_tissue(7)|lung(3)|autonomic_ganglia(2)|central_nervous_system(2)	soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330						c.(5443-5445)CAG>CTG		neurofibromin isoform 1							134.0	127.0	130.0					17																	29654692		2203	4300	6503	SO:0001583	missense	4763	Neurofibromatosis_type_1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29654692A>T		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.5444A>T	17.37:g.29654692A>T	ENSP00000351015:p.Gln1815Leu	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_uc002hgh.2_Missense_Mutation_p.Q1794L|NF1_uc002hgi.1_Missense_Mutation_p.Q827L|NF1_uc010cso.2_Missense_Mutation_p.Q3L	p.Q1815L	NM_001042492	NP_001035957	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	38	5777	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	1815					O00662|Q14284|Q14930|Q14931|Q9UMK3	Missense_Mutation	SNP	ENST00000358273.4	37	c.5444A>T	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	A	18.87	3.716034	0.68844	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735	D;D;D	0.83419	-1.72;-1.72;-1.72	5.99	5.99	0.97316	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.79335	0.4428	N	0.08118	0	0.80722	D	1	B;P;B	0.42039	0.002;0.769;0.251	B;P;B	0.54460	0.003;0.753;0.076	T	0.79422	-0.1810	10	0.28530	T	0.3	.	15.7142	0.77655	1.0:0.0:0.0:0.0	.	844;1794;1815	Q59FX3;P21359-2;P21359	.;.;NF1_HUMAN	L	1815;1794;1460	ENSP00000351015:Q1815L;ENSP00000348498:Q1794L;ENSP00000389907:Q1460L	ENSP00000348498:Q1794L	Q	+	2	0	NF1	26678818	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.923000	0.92808	2.295000	0.77249	0.524000	0.50904	CAG		0.488	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		27	54	0	0	0	0.008361	0	27	54				
UTP6	55813	broad.mit.edu	37	17	30207728	30207728	+	Silent	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr17:30207728C>A	ENST00000261708.4	-	11	968	c.831G>T	c.(829-831)gtG>gtT	p.V277V	CTC-542B22.2_ENST00000583236.1_lincRNA	NM_018428.2	NP_060898.2	Q9NYH9	UTP6_HUMAN	UTP6, small subunit (SSU) processome component, homolog (yeast)	277					rRNA processing (GO:0006364)	nucleolus (GO:0005730)		p.V277V(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)	21		all_hematologic(16;0.0149)|Ovarian(249;0.021)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|Breast(31;0.231)				CTCGCCTTGCCACATAATCCC	0.463																																							uc002hgr.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(829-831)GTG>GTT		hepatocellular carcinoma-associated antigen 66							159.0	143.0	148.0					17																	30207728		2203	4300	6503	SO:0001819	synonymous_variant	55813				rRNA processing	nucleolus	binding	g.chr17:30207728C>A	AF116631	CCDS11269.1	17q11.2	2010-06-24	2006-05-16	2006-05-16	ENSG00000108651	ENSG00000108651			18279	protein-coding gene	gene with protein product	"""hepatocellular carcinoma associated antigen 66"""		"""chromosome 17 open reading frame 40"""	C17orf40		10843809, 16138909	Standard	NM_018428		Approved	HCA66	uc002hgr.3	Q9NYH9	OTTHUMG00000132815	ENST00000261708.4:c.831G>T	17.37:g.30207728C>A						UTP6_uc002hgq.2_Silent_p.V93V|UTP6_uc010cst.2_Silent_p.V126V|UTP6_uc010wbw.1_Silent_p.V277V	p.V277V	NM_018428	NP_060898	Q9NYH9	UTP6_HUMAN			11	914	-		all_hematologic(16;0.0149)|Ovarian(249;0.021)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|Breast(31;0.231)	277					Q8IX96|Q96BL2|Q9NQ91	Silent	SNP	ENST00000261708.4	37	c.831G>T	CCDS11269.1																																																																																				0.463	UTP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256265.2	NM_018428		20	137	1	0	1.96292e-10	0.010504	2.75943e-10	20	137				
SLFN12L	100506736	broad.mit.edu	37	17	33802074	33802074	+	Silent	SNP	T	T	C			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr17:33802074T>C	ENST00000260908.7	-	4	1752	c.1635A>G	c.(1633-1635)acA>acG	p.T545T	SLFN12L_ENST00000361112.4_Silent_p.T574T|RP11-686D22.9_ENST00000587076.1_RNA|SLFN12L_ENST00000449046.1_Silent_p.T576T	NM_001195790.1	NP_001182719.1	Q6IEE8	SN12L_HUMAN	schlafen family member 12-like	545						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)	p.T576T(2)|p.T574T(1)		breast(1)|endometrium(4)|kidney(5)|large_intestine(2)|lung(3)|ovary(1)	16						TTGTTTGAGCTGTTGTCCAAT	0.363																																							uc002hjn.2		NA																	3	Substitution - coding silent(3)		lung(3)	ovary(1)	1						c.(1720-1722)ACA>ACG		schlafen family member 12-like							279.0	223.0	240.0					17																	33802074		692	1591	2283	SO:0001819	synonymous_variant	342615							g.chr17:33802074T>C	AK172761	CCDS56026.1	17q12	2011-05-24				ENSG00000205045			33920	protein-coding gene	gene with protein product		614956				9846487	Standard	NM_001195790		Approved		uc021tuy.1	Q6IEE8		ENST00000260908.7:c.1635A>G	17.37:g.33802074T>C							p.T574T	NM_001145027	NP_001138499					5	2601	-								F5H6G3	Silent	SNP	ENST00000260908.7	37	c.1722A>G	CCDS56026.1																																																																																				0.363	SLFN12L-004	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395748.2	XM_496206		10	22	0	0	0	0.006214	0	10	22				
SLFN12L	100506736	broad.mit.edu	37	17	33806457	33806457	+	Missense_Mutation	SNP	C	C	G			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr17:33806457C>G	ENST00000260908.7	-	2	889	c.772G>C	c.(772-774)Ggt>Cgt	p.G258R	SLFN12L_ENST00000361112.4_Missense_Mutation_p.G287R|RP11-686D22.9_ENST00000587076.1_RNA|SLFN12L_ENST00000449046.1_Missense_Mutation_p.G289R	NM_001195790.1	NP_001182719.1	Q6IEE8	SN12L_HUMAN	schlafen family member 12-like	258						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)	p.G289R(2)|p.G287R(1)		breast(1)|endometrium(4)|kidney(5)|large_intestine(2)|lung(3)|ovary(1)	16						TCATTTAGACCAACGAATAAA	0.328																																							uc002hjn.2		NA																	3	Substitution - Missense(3)		lung(3)	ovary(1)	1						c.(859-861)GGT>CGT		schlafen family member 12-like							108.0	86.0	93.0					17																	33806457		692	1591	2283	SO:0001583	missense	342615							g.chr17:33806457C>G	AK172761	CCDS56026.1	17q12	2011-05-24				ENSG00000205045			33920	protein-coding gene	gene with protein product		614956				9846487	Standard	NM_001195790		Approved		uc021tuy.1	Q6IEE8		ENST00000260908.7:c.772G>C	17.37:g.33806457C>G	ENSP00000437635:p.Gly258Arg						p.G287R	NM_001145027	NP_001138499					3	1738	-								F5H6G3	Missense_Mutation	SNP	ENST00000260908.7	37	c.859G>C	CCDS56026.1	.	.	.	.	.	.	.	.	.	.	C	15.17	2.752889	0.49362	.	.	ENSG00000205045	ENST00000260908;ENST00000361112;ENST00000449046	T;T;T	0.79554	-1.28;-1.28;-1.28	2.51	2.51	0.30379	.	.	.	.	.	D	0.91382	0.7281	H	0.95224	3.64	0.23325	N	0.997902	D	0.89917	1.0	D	0.91635	0.999	T	0.80761	-0.1238	9	0.87932	D	0	.	8.5127	0.33226	0.0:1.0:0.0:0.0	.	287	Q6IEE8-2	.	R	258;287;289	ENSP00000437635:G258R;ENSP00000354412:G287R;ENSP00000389348:G289R	ENSP00000437635:G258R	G	-	1	0	SLFN12L	30830570	0.931000	0.31567	0.562000	0.28370	0.225000	0.24961	2.299000	0.43611	1.389000	0.46526	0.411000	0.27672	GGT		0.328	SLFN12L-004	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395748.2	XM_496206		10	42	0	0	0	0.008291	0	10	42				
NEUROD2	4761	broad.mit.edu	37	17	37762573	37762573	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr17:37762573C>A	ENST00000302584.4	-	2	500	c.280G>T	c.(280-282)Gac>Tac	p.D94Y		NM_006160.3	NP_006151.3	Q15784	NDF2_HUMAN	neuronal differentiation 2	94					associative learning (GO:0008306)|behavioral fear response (GO:0001662)|cellular response to calcium ion (GO:0071277)|cellular response to electrical stimulus (GO:0071257)|cerebellar cortex development (GO:0021695)|negative regulation of synapse maturation (GO:2000297)|nervous system development (GO:0007399)|neuron development (GO:0048666)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic plasticity (GO:0031915)|protein ubiquitination (GO:0016567)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	nucleus (GO:0005634)	E-box binding (GO:0070888)|protein heterodimerization activity (GO:0046982)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.D94Y(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(4)	8	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Lung(15;0.00549)|LUAD - Lung adenocarcinoma(14;0.0664)			TCCGCCTCGTCCAGTCCTtct	0.667																																							uc002hry.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(280-282)GAC>TAC		neurogenic differentiation 2							31.0	26.0	28.0					17																	37762573		2203	4299	6502	SO:0001583	missense	4761				cellular response to calcium ion|cellular response to electrical stimulus|cerebellar cortex development|negative regulation of synapse maturation|positive regulation of calcium-mediated signaling|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of synapse maturation|positive regulation of synaptic plasticity|protein ubiquitination|regulation of transcription from RNA polymerase II promoter	nucleus	E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr17:37762573C>A	U58681	CCDS11338.1	17q12	2013-05-21	2012-02-22		ENSG00000171532	ENSG00000171532		"""Basic helix-loop-helix proteins"""	7763	protein-coding gene	gene with protein product		601725	"""neurogenic differentiation 2"""			9119405	Standard	XM_005257409		Approved	NDRF, bHLHa1	uc002hry.3	Q15784	OTTHUMG00000133211	ENST00000302584.4:c.280G>T	17.37:g.37762573C>A	ENSP00000306754:p.Asp94Tyr						p.D94Y	NM_006160	NP_006151	Q15784	NDF2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Lung(15;0.00549)|LUAD - Lung adenocarcinoma(14;0.0664)		2	480	-	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		94					Q8TBI7|Q9UQC6	Missense_Mutation	SNP	ENST00000302584.4	37	c.280G>T	CCDS11338.1	.	.	.	.	.	.	.	.	.	.	C	16.17	3.046852	0.55110	.	.	ENSG00000171532	ENST00000302584	D	0.96716	-4.1	5.25	5.25	0.73442	.	0.264225	0.35805	U	0.002964	D	0.95252	0.8460	L	0.43923	1.385	0.80722	D	1	D	0.55385	0.971	P	0.47299	0.543	D	0.95876	0.8895	10	0.87932	D	0	-6.5126	17.6108	0.88053	0.0:1.0:0.0:0.0	.	94	Q15784	NDF2_HUMAN	Y	94	ENSP00000306754:D94Y	ENSP00000306754:D94Y	D	-	1	0	NEUROD2	35016099	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.661000	0.83786	2.451000	0.82905	0.511000	0.50034	GAC		0.667	NEUROD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256931.2	NM_006160		3	1	1	0	0.004672	0.004672	0.00495824	3	1				
KRTAP4-11	653240	broad.mit.edu	37	17	39274398	39274398	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr17:39274398G>T	ENST00000391413.2	-	1	208	c.170C>A	c.(169-171)tCt>tAt	p.S57Y		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	57	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		Missing (in allele KAP4.14). {ECO:0000269|PubMed:15955084}.			keratin filament (GO:0045095)		p.S57Y(1)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			GCAGCACACAGACTGGCAGCA	0.672																																							uc002hvz.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(169-171)TCT>TAT		keratin associated protein 4-11							8.0	13.0	12.0					17																	39274398		673	1578	2251	SO:0001583	missense	653240					keratin filament		g.chr17:39274398G>T	AC025904	CCDS45675.1	17q21.2	2013-06-25			ENSG00000212721	ENSG00000212721		"""Keratin associated proteins"""	18911	protein-coding gene	gene with protein product			"""keratin associated protein 4-14"""	KRTAP4-14			Standard	NM_033059		Approved	KAP4.11, KAP4.14	uc002hvz.3	Q9BYQ6	OTTHUMG00000133586	ENST00000391413.2:c.170C>A	17.37:g.39274398G>T	ENSP00000375232:p.Ser57Tyr						p.S57Y	NM_033059	NP_149048	Q9BYQ6	KR411_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	209	-		Breast(137;0.000496)	57		Missing (in allele KAP4.14).	7.|27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		A0AUY2	Missense_Mutation	SNP	ENST00000391413.2	37	c.170C>A	CCDS45675.1	.	.	.	.	.	.	.	.	.	.	.	12.09	1.833443	0.32421	.	.	ENSG00000212721	ENST00000391413	T	0.01685	4.69	3.82	3.82	0.43975	.	.	.	.	.	T	0.10294	0.0252	H	0.95645	3.7	0.09310	N	1	P	0.48998	0.918	P	0.49301	0.606	T	0.08126	-1.0737	9	0.87932	D	0	.	13.2343	0.59961	0.0:0.0:1.0:0.0	.	57	Q9BYQ6	KR411_HUMAN	Y	57	ENSP00000375232:S57Y	ENSP00000375232:S57Y	S	-	2	0	KRTAP4-11	36527924	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	0.622000	0.24433	1.974000	0.57490	0.511000	0.50034	TCT		0.672	KRTAP4-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257690.1			16	22	1	0	3.45872e-05	0.004007	4.03057e-05	16	22				
KRTAP4-4	84616	broad.mit.edu	37	17	39316477	39316477	+	Missense_Mutation	SNP	T	T	C			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr17:39316477T>C	ENST00000390661.3	-	1	506	c.467A>G	c.(466-468)tAc>tGc	p.Y156C		NM_032524.1	NP_115913.1	Q9BYR3	KRA44_HUMAN	keratin associated protein 4-4	156						keratin filament (GO:0045095)		p.Y156C(1)		kidney(1)|large_intestine(1)|lung(5)	7		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			ATGGGGCCTGTAGCACCTGGA	0.617																																							uc002hwc.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(466-468)TAC>TGC		keratin associated protein 4.4							38.0	46.0	43.0					17																	39316477		2198	4297	6495	SO:0001583	missense	84616					keratin filament		g.chr17:39316477T>C	AJ406936	CCDS11383.1	17q21.2	2013-06-25			ENSG00000171396	ENSG00000171396		"""Keratin associated proteins"""	16928	protein-coding gene	gene with protein product			"""keratin associated protein 4-13"""	KRTAP4-13		11279113	Standard	NM_032524		Approved	KAP4.4, KAP4.13	uc002hwc.3	Q9BYR3	OTTHUMG00000133428	ENST00000390661.3:c.467A>G	17.37:g.39316477T>C	ENSP00000375076:p.Tyr156Cys						p.Y156C	NM_032524	NP_115913	Q9BYR3	KRA44_HUMAN	STAD - Stomach adenocarcinoma(17;0.000449)		1	507	-		Breast(137;0.000496)	156					Q9BYU7	Missense_Mutation	SNP	ENST00000390661.3	37	c.467A>G	CCDS11383.1	.	.	.	.	.	.	.	.	.	.	.	0.010	-1.748000	0.00669	.	.	ENSG00000171396	ENST00000390661	T	0.00584	6.4	3.59	2.54	0.30619	.	10.508100	0.01852	N	0.036000	T	0.00178	0.0005	N	0.00012	-2.96	0.23376	N	0.997803	B	0.02656	0.0	B	0.01281	0.0	T	0.49735	-0.8908	10	0.02654	T	1	.	9.2833	0.37742	0.0:0.8868:0.0:0.1132	.	156	Q9BYR3	KRA44_HUMAN	C	156	ENSP00000375076:Y156C	ENSP00000375076:Y156C	Y	-	2	0	KRTAP4-4	36570003	0.117000	0.22190	0.864000	0.33941	0.307000	0.27823	0.276000	0.18716	1.076000	0.40961	-0.624000	0.04008	TAC		0.617	KRTAP4-4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257291.1			12	28	0	0	0	0.001368	0	12	28				
STAT3	6774	broad.mit.edu	37	17	40468916	40468916	+	Silent	SNP	C	C	G			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr17:40468916C>G	ENST00000264657.5	-	23	2460	c.2148G>C	c.(2146-2148)acG>acC	p.T716T	STAT3_ENST00000588969.1_Silent_p.T716T|STAT3_ENST00000585517.1_Intron|STAT3_ENST00000389272.3_Silent_p.T618T|STAT3_ENST00000404395.3_Silent_p.T715T	NM_003150.3|NM_139276.2	NP_003141.2|NP_644805.1	P40763	STAT3_HUMAN	signal transducer and activator of transcription 3 (acute-phase response factor)	716					acute-phase response (GO:0006953)|astrocyte differentiation (GO:0048708)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|cellular response to hormone stimulus (GO:0032870)|cytokine-mediated signaling pathway (GO:0019221)|eating behavior (GO:0042755)|eye photoreceptor cell differentiation (GO:0001754)|glucose homeostasis (GO:0042593)|growth hormone receptor signaling pathway (GO:0060396)|interleukin-6-mediated signaling pathway (GO:0070102)|intracellular receptor signaling pathway (GO:0030522)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of cell death (GO:0060548)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glycolytic process (GO:0045820)|negative regulation of neuron migration (GO:2001223)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphorylation (GO:0016310)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|radial glial cell differentiation (GO:0060019)|regulation of multicellular organism growth (GO:0040014)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|sexual reproduction (GO:0019953)|signal transduction (GO:0007165)|stem cell maintenance (GO:0019827)|temperature homeostasis (GO:0001659)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.T716T(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)		TGCTGCAGGTCGTTCTGTAGG	0.483									Hyperimmunoglobulin E Recurrent Infection Syndrome																														uc002hzl.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|lung(1)|breast(1)|central_nervous_system(1)	4						c.(2146-2148)ACG>ACC		signal transducer and activator of transcription							43.0	45.0	44.0					17																	40468916		2203	4300	6503	SO:0001819	synonymous_variant	6774	Hyperimmunoglobulin_E_Recurrent_Infection_Syndrome	Familial Cancer Database	HIES, Hyper IgE syndrome, autosomal dominant (Job syndrome) / recessive	cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|JAK-STAT cascade involved in growth hormone signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis	cytosol|nucleus|plasma membrane	calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding	g.chr17:40468916C>G	BC014482	CCDS32656.1, CCDS32657.1, CCDS59288.1	17q21	2014-09-17			ENSG00000168610	ENSG00000168610		"""SH2 domain containing"""	11364	protein-coding gene	gene with protein product		102582				7512451	Standard	NM_139276		Approved	APRF	uc002hzl.1	P40763	OTTHUMG00000150645	ENST00000264657.5:c.2148G>C	17.37:g.40468916C>G						STAT3_uc002hzk.1_Intron|STAT3_uc002hzm.1_Silent_p.T715T|STAT3_uc010wgh.1_Silent_p.T618T|STAT3_uc002hzn.1_Silent_p.T716T|STAT3_uc010cyf.1_5'Flank	p.T716T	NM_139276	NP_644805	P40763	STAT3_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.139)	23	2388	-		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)	716					A8K7B8|K7ENL3|O14916|Q9BW54	Silent	SNP	ENST00000264657.5	37	c.2148G>C	CCDS32656.1																																																																																				0.483	STAT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319353.3	NM_139276, NM_003150		8	54	0	0	0	0.00308	0	8	54				
EZH1	2145	broad.mit.edu	37	17	40872313	40872313	+	Missense_Mutation	SNP	C	C	G			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr17:40872313C>G	ENST00000428826.2	-	7	763	c.642G>C	c.(640-642)aaG>aaC	p.K214N	EZH1_ENST00000435174.1_Missense_Mutation_p.K75N|EZH1_ENST00000585893.1_Missense_Mutation_p.K174N|EZH1_ENST00000592743.1_Missense_Mutation_p.K214N|EZH1_ENST00000415827.2_Missense_Mutation_p.K205N|EZH1_ENST00000590078.1_Missense_Mutation_p.K144N			Q92800	EZH1_HUMAN	enhancer of zeste 1 polycomb repressive complex 2 subunit	214					anatomical structure morphogenesis (GO:0009653)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	ESC/E(Z) complex (GO:0035098)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)	p.K214N(1)		breast(1)|endometrium(4)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	27		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0784)		GTCGCTTTCTCTTTCTTGTTA	0.448																																							uc002iaz.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(640-642)AAG>AAC		enhancer of zeste homolog 1							317.0	248.0	271.0					17																	40872313		2203	4300	6503	SO:0001583	missense	2145				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	chromatin binding|DNA binding	g.chr17:40872313C>G		CCDS32659.1	17q21.1-q21.3	2014-05-28	2014-05-28			ENSG00000108799		"""Chromatin-modifying enzymes / K-methyltransferases"""	3526	protein-coding gene	gene with protein product		601674	"""enhancer of zeste (Drosophila) homolog 1"", ""enhancer of zeste homolog 1 (Drosophila)"""			8921387	Standard	NM_001991		Approved	KIAA0388, KMT6B	uc002iaz.3	Q92800		ENST00000428826.2:c.642G>C	17.37:g.40872313C>G	ENSP00000404658:p.Lys214Asn					EZH1_uc002iba.2_Missense_Mutation_p.K205N|EZH1_uc010wgt.1_Missense_Mutation_p.K144N|EZH1_uc010wgu.1_Missense_Mutation_p.K220N|EZH1_uc010wgv.1_Missense_Mutation_p.K174N|EZH1_uc010wgw.1_Missense_Mutation_p.K75N|EZH1_uc010cyp.2_Missense_Mutation_p.K115N|EZH1_uc010cyq.2_Missense_Mutation_p.K131N|EZH1_uc010cys.2_Missense_Mutation_p.K165N|EZH1_uc010cyo.1_5'UTR|EZH1_uc010cyr.1_5'UTR	p.K214N	NM_001991	NP_001982	Q92800	EZH1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0784)	7	787	-		Breast(137;0.00104)	214					A6NCH6|B4DIJ1|B4DIZ7|B4DSS2|B4E3R7|O43287|Q14459|Q53XP3	Missense_Mutation	SNP	ENST00000428826.2	37	c.642G>C	CCDS32659.1	.	.	.	.	.	.	.	.	.	.	C	13.56	2.274366	0.40194	.	.	ENSG00000108799	ENST00000264646;ENST00000428826;ENST00000415827;ENST00000435174	D;D	0.94417	-3.42;-3.39	5.31	-0.874	0.10631	SANT domain, DNA binding (1);	0.138452	0.64402	D	0.000004	D	0.86961	0.6059	L	0.29908	0.895	0.38622	D	0.95117	B;P;P;B	0.44090	0.402;0.573;0.826;0.437	B;B;B;B	0.34824	0.138;0.138;0.19;0.065	T	0.82460	-0.0446	10	0.48119	T	0.1	.	11.3578	0.49625	0.0:0.5472:0.0:0.4528	.	75;174;220;214	Q92800-5;Q92800-3;Q92800-2;Q92800	.;.;.;EZH1_HUMAN	N	217;214;174;75	ENSP00000404658:K214N;ENSP00000404071:K75N	ENSP00000264646:K217N	K	-	3	2	EZH1	38125839	0.434000	0.25570	0.835000	0.33067	0.991000	0.79684	-0.186000	0.09670	-0.038000	0.13624	-0.136000	0.14681	AAG		0.448	EZH1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452347.1	NM_001991		20	84	0	0	0	0.00278	0	20	84				
CRHR1	1394	broad.mit.edu	37	17	43906640	43906640	+	Silent	SNP	C	C	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr17:43906640C>T	ENST00000398285.3	+	5	387	c.387C>T	c.(385-387)atC>atT	p.I129I	CRHR1_ENST00000577353.1_Silent_p.I129I|CRHR1_ENST00000314537.5_Silent_p.I129I|CRHR1_ENST00000352855.5_Silent_p.I89I|CRHR1_ENST00000293493.7_5'UTR|CRHR1_ENST00000339069.5_Silent_p.I28I	NM_001145146.1	NP_001138618.1	P34998	CRFR1_HUMAN	corticotropin releasing hormone receptor 1	129					activation of adenylate cyclase activity (GO:0007190)|adrenal gland development (GO:0030325)|behavioral response to cocaine (GO:0048148)|behavioral response to ethanol (GO:0048149)|behavioral response to pain (GO:0048266)|cellular response to corticotropin-releasing hormone stimulus (GO:0071376)|corticotropin secretion (GO:0051458)|epithelial cell differentiation (GO:0030855)|fear response (GO:0042596)|female pregnancy (GO:0007565)|general adaptation syndrome, behavioral process (GO:0051867)|hypothalamus development (GO:0021854)|immune response (GO:0006955)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of feeding behavior (GO:2000252)|negative regulation of neuron death (GO:1901215)|negative regulation of voltage-gated calcium channel activity (GO:1901386)|neuropeptide signaling pathway (GO:0007218)|parturition (GO:0007567)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of mast cell degranulation (GO:0043306)|regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010578)|regulation of corticosterone secretion (GO:2000852)|response to hypoxia (GO:0001666)|response to immobilization stress (GO:0035902)|visual learning (GO:0008542)	apical part of cell (GO:0045177)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)|vesicle (GO:0031982)	corticotrophin-releasing factor receptor activity (GO:0015056)|corticotropin-releasing hormone binding (GO:0051424)|corticotropin-releasing hormone receptor activity (GO:0043404)	p.I129I(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(15)|pancreas(1)|skin(1)	24	Colorectal(2;0.0416)			BRCA - Breast invasive adenocarcinoma(366;0.161)		GCCACTGTATCTCCCTGGTGG	0.582																																					Ovarian(110;57 1568 10207 38216 49865)	Ovarian(110;57 1568 10207 38216 49865)	uc010dap.2		NA																	1	Substitution - coding silent(1)		lung(1)	lung(3)	3						c.(385-387)ATC>ATT		corticotropin releasing hormone receptor 1							89.0	96.0	94.0					17																	43906640		2074	4199	6273	SO:0001819	synonymous_variant	1394				female pregnancy|immune response|parturition	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding	g.chr17:43906640C>T	L23332	CCDS42350.1, CCDS45712.1, CCDS45713.1, CCDS45714.1	17q12-q22	2012-08-14			ENSG00000120088	ENSG00000120088		"""GPCR / Class B : Corticotropin-releasing factor receptors"""	2357	protein-coding gene	gene with protein product	"""corticotropin-releasing factor receptor"""	122561		CRHR		7590738	Standard	NM_004382		Approved	CRF-R, CRF1	uc010dap.3	P34998		ENST00000398285.3:c.387C>T	17.37:g.43906640C>T						CRHR1_uc010wjx.1_5'UTR|CRHR1_uc002ijp.2_Silent_p.I28I|CRHR1_uc002ijm.2_Silent_p.I129I|CRHR1_uc002ijn.2_Silent_p.I89I|CRHR1_uc010dar.2_Silent_p.I129I|CRHR1_uc010dao.2_Silent_p.I28I|CRHR1_uc010daq.2_5'UTR|CRHR1_uc010das.1_RNA|CRHR1_uc002ijo.1_RNA	p.I129I	NM_001145146	NP_001138618	P34998	CRFR1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.161)	5	652	+	Colorectal(2;0.0416)		129			Helical; Name=1; (Potential).		B4DIE9|Q13008|Q4QRJ1|Q9UK64	Silent	SNP	ENST00000398285.3	37	c.387C>T	CCDS45712.1																																																																																				0.582	CRHR1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000441241.3			10	25	0	0	0	0.008291	0	10	25				
MYL4	4635	broad.mit.edu	37	17	45299788	45299788	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr17:45299788G>T	ENST00000354968.1	+	6	658	c.530G>T	c.(529-531)gGg>gTg	p.G177V	MYL4_ENST00000572316.1_Missense_Mutation_p.G177V|snoU13_ENST00000516279.1_RNA|MYL4_ENST00000393450.1_Missense_Mutation_p.G177V	NM_001002841.1	NP_001002841.1	P12829	MYL4_HUMAN	myosin, light chain 4, alkali; atrial, embryonic	177	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cardiac muscle contraction (GO:0060048)|muscle filament sliding (GO:0030049)|positive regulation of ATPase activity (GO:0032781)|regulation of the force of heart contraction (GO:0002026)	A band (GO:0031672)|cytosol (GO:0005829)|myosin complex (GO:0016459)	actin filament binding (GO:0051015)|actin monomer binding (GO:0003785)|calcium ion binding (GO:0005509)|myosin II heavy chain binding (GO:0032038)	p.G177V(1)|p.G84V(1)		endometrium(2)|large_intestine(1)|lung(4)|ovary(3)|prostate(1)	11						CTGTTAGCTGGGCAAGAGGAT	0.552																																							uc002ilg.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(529-531)GGG>GTG		atrial/embryonic alkali myosin light chain							115.0	95.0	102.0					17																	45299788		2203	4300	6503	SO:0001583	missense	4635				cardiac muscle contraction|muscle filament sliding|muscle organ development|positive regulation of ATPase activity|regulation of the force of heart contraction	A band|cytosol|muscle myosin complex	actin filament binding|actin monomer binding|calcium ion binding|myosin II heavy chain binding|structural constituent of muscle	g.chr17:45299788G>T		CCDS11510.1	17q21.32	2013-09-19	2006-09-29		ENSG00000198336	ENSG00000198336		"""Myosins / Light chain"", ""EF-hand domain containing"""	7585	protein-coding gene	gene with protein product	"""myosin, atrial/fetal muscle, light chain"""	160770	"""myosin, light polypeptide 4, alkali; atrial, embryonic"""			3417683	Standard	NM_002476		Approved	ALC1, AMLC, GT1, PRO1957	uc002ilg.3	P12829	OTTHUMG00000178232	ENST00000354968.1:c.530G>T	17.37:g.45299788G>T	ENSP00000347055:p.Gly177Val					MYL4_uc002ilh.2_Missense_Mutation_p.G177V	p.G177V	NM_001002841	NP_001002841	P12829	MYL4_HUMAN			6	658	+			177			EF-hand 3.		D3DXJ7|P11783	Missense_Mutation	SNP	ENST00000354968.1	37	c.530G>T	CCDS11510.1	.	.	.	.	.	.	.	.	.	.	G	18.24	3.580597	0.65992	.	.	ENSG00000198336	ENST00000354968;ENST00000393450;ENST00000536623	D;D	0.91124	-2.79;-2.79	4.83	4.83	0.62350	EF-hand-like domain (1);	0.125714	0.52532	D	0.000066	D	0.94886	0.8347	M	0.87038	2.855	0.80722	D	1	D	0.59767	0.986	P	0.58780	0.845	D	0.95539	0.8610	10	0.87932	D	0	-33.1353	15.791	0.78364	0.0:0.0:1.0:0.0	.	177	P12829	MYL4_HUMAN	V	177;177;84	ENSP00000347055:G177V;ENSP00000377096:G177V	ENSP00000347055:G177V	G	+	2	0	MYL4	42654787	1.000000	0.71417	1.000000	0.80357	0.546000	0.35178	6.431000	0.73395	2.654000	0.90174	0.561000	0.74099	GGG		0.552	MYL4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441059.1	NM_001002841		7	54	1	0	8.12818e-05	0.001984	9.14868e-05	7	54				
COL1A1	1277	broad.mit.edu	37	17	48272811	48272811	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr17:48272811C>A	ENST00000225964.5	-	18	1302	c.1184G>T	c.(1183-1185)gGt>gTt	p.G395V		NM_000088.3	NP_000079	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	395	Triple-helical region.				blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|bone trabecula formation (GO:0060346)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to amino acid stimulus (GO:0071230)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal system development (GO:0048706)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|leukocyte migration (GO:0050900)|negative regulation of cell-substrate adhesion (GO:0010812)|osteoblast differentiation (GO:0001649)|platelet activation (GO:0030168)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterotrimerization (GO:0070208)|protein localization to nucleus (GO:0034504)|protein transport (GO:0015031)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to estradiol (GO:0032355)|response to hydrogen peroxide (GO:0042542)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|tooth mineralization (GO:0034505)|visual perception (GO:0007601)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)	p.G395V(1)	COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)	ACCTTTAGCACCAGGCTGTCC	0.582			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta				OREG0024559	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc002iqm.2		NA		Dom	yes		17	17q21.31-q22	1277	T	"""collagen, type I, alpha 1"""	yes	Osteogenesis imperfecta	M	PDGFB|USP6		dermatofibrosarcoma protuberans|aneurysmal bone cyst 	COL1A1/PDGFB(372)	1	Substitution - Missense(1)		lung(1)	soft_tissue(372)|central_nervous_system(7)|skin(1)|breast(1)|pancreas(1)	382						c.(1183-1185)GGT>GTT		alpha 1 type I collagen preproprotein	Collagenase(DB00048)|Palifermin(DB00039)						126.0	120.0	122.0					17																	48272811		2203	4300	6503	SO:0001583	missense	1277				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding	g.chr17:48272811C>A	Z74615	CCDS11561.1	17q21.33	2014-09-17			ENSG00000108821	ENSG00000108821		"""Collagens"""	2197	protein-coding gene	gene with protein product		120150				3178743, 2857713	Standard	NM_000088		Approved	OI4	uc002iqm.3	P02452	OTTHUMG00000148674	ENST00000225964.5:c.1184G>T	17.37:g.48272811C>A	ENSP00000225964:p.Gly395Val		OREG0024559	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	953		p.G395V	NM_000088	NP_000079	P02452	CO1A1_HUMAN			18	1310	-			395			Triple-helical region.		O76045|P78441|Q13896|Q13902|Q13903|Q14037|Q14992|Q15176|Q15201|Q16050|Q59F64|Q7KZ30|Q7KZ34|Q8IVI5|Q8N473|Q9UML6|Q9UMM7	Missense_Mutation	SNP	ENST00000225964.5	37	c.1184G>T	CCDS11561.1	.	.	.	.	.	.	.	.	.	.	C	18.62	3.663745	0.67700	.	.	ENSG00000108821	ENST00000225964	D	0.99637	-6.29	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	D	0.99849	0.9930	H	0.99261	4.49	0.80722	D	1	D	0.76494	0.999	D	0.97110	1.0	D	0.96574	0.9425	10	0.87932	D	0	.	18.4091	0.90545	0.0:1.0:0.0:0.0	.	395	P02452	CO1A1_HUMAN	V	395	ENSP00000225964:G395V	ENSP00000225964:G395V	G	-	2	0	COL1A1	45627810	1.000000	0.71417	1.000000	0.80357	0.864000	0.49448	6.042000	0.70996	2.647000	0.89833	0.557000	0.71058	GGT		0.582	COL1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309036.2			17	75	1	0	7.07596e-05	0.006122	8.00845e-05	17	75				
KIF2B	84643	broad.mit.edu	37	17	51900651	51900651	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr17:51900651C>A	ENST00000268919.4	+	1	413	c.257C>A	c.(256-258)gCt>gAt	p.A86D		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	86					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.A86D(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CTGGACTCTGCTGAACACCCC	0.572																																							uc002iua.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(3)	8						c.(256-258)GCT>GAT		kinesin family member 2B							142.0	146.0	145.0					17																	51900651		2203	4300	6503	SO:0001583	missense	84643				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity	g.chr17:51900651C>A	AF333335	CCDS32685.1	17q22	2014-08-12			ENSG00000141200	ENSG00000141200		"""Kinesins"""	29443	protein-coding gene	gene with protein product		615142				11416179	Standard	NM_032559		Approved		uc002iua.2	Q8N4N8	OTTHUMG00000177756	ENST00000268919.4:c.257C>A	17.37:g.51900651C>A	ENSP00000268919:p.Ala86Asp						p.A86D	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN			1	413	+			86					Q96MA2|Q9BXG6	Missense_Mutation	SNP	ENST00000268919.4	37	c.257C>A	CCDS32685.1	.	.	.	.	.	.	.	.	.	.	C	0.009	-1.817216	0.00595	.	.	ENSG00000141200	ENST00000268919	T	0.73469	-0.75	4.95	2.92	0.33932	.	1.175380	0.06557	N	0.746050	T	0.52141	0.1716	N	0.12887	0.27	0.09310	N	1	B	0.09022	0.002	B	0.10450	0.005	T	0.42137	-0.9469	10	0.05721	T	0.95	.	6.0475	0.19768	0.1504:0.6872:0.0:0.1624	.	86	Q8N4N8	KIF2B_HUMAN	D	86	ENSP00000268919:A86D	ENSP00000268919:A86D	A	+	2	0	KIF2B	49255650	0.006000	0.16342	0.001000	0.08648	0.096000	0.18686	0.665000	0.25083	0.760000	0.33108	0.650000	0.86243	GCT		0.572	KIF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438854.1	NM_032559		19	147	1	0	2.89027e-11	0.002299	4.18393e-11	19	147				
ABCA6	23460	broad.mit.edu	37	17	67130881	67130881	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr17:67130881G>T	ENST00000284425.2	-	5	637	c.463C>A	c.(463-465)Cat>Aat	p.H155N		NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	155					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.H155N(1)		breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					TCCCAGCAATGAGCTGTAAGC	0.383																																							uc002jhw.1		NA																	1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(2)|large_intestine(2)|ovary(2)|skin(1)	7						c.(463-465)CAT>AAT		ATP-binding cassette, sub-family A, member 6							103.0	94.0	97.0					17																	67130881		2203	4300	6503	SO:0001583	missense	23460				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67130881G>T	U66680	CCDS11683.1	17q21	2012-03-14			ENSG00000154262	ENSG00000154262		"""ATP binding cassette transporters / subfamily A"""	36	protein-coding gene	gene with protein product		612504				8894702	Standard	NM_080284		Approved	EST155051	uc002jhw.1	Q8N139		ENST00000284425.2:c.463C>A	17.37:g.67130881G>T	ENSP00000284425:p.His155Asn						p.H155N	NM_080284	NP_525023	Q8N139	ABCA6_HUMAN			5	638	-	Breast(10;5.65e-12)		155					Q6NSH9|Q8N856|Q8WWZ6	Missense_Mutation	SNP	ENST00000284425.2	37	c.463C>A	CCDS11683.1	.	.	.	.	.	.	.	.	.	.	G	7.345	0.621662	0.14193	.	.	ENSG00000154262	ENST00000284425	D	0.86497	-2.13	5.24	2.16	0.27623	.	0.318209	0.22144	N	0.064010	D	0.84261	0.5433	M	0.74647	2.275	0.80722	D	1	B	0.16603	0.018	B	0.21360	0.034	T	0.76830	-0.2814	10	0.41790	T	0.15	.	7.5153	0.27598	0.2729:0.0:0.7271:0.0	.	155	Q8N139	ABCA6_HUMAN	N	155	ENSP00000284425:H155N	ENSP00000284425:H155N	H	-	1	0	ABCA6	64642476	1.000000	0.71417	0.278000	0.24718	0.180000	0.23129	1.426000	0.34870	0.305000	0.22832	0.591000	0.81541	CAT		0.383	ABCA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450463.1	NM_080284		17	49	1	0	1.33834e-09	0.007413	1.81403e-09	17	49				
TTYH2	94015	broad.mit.edu	37	17	72240154	72240154	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr17:72240154G>T	ENST00000269346.4	+	6	844	c.770G>T	c.(769-771)tGg>tTg	p.W257L	TTYH2_ENST00000534346.1_3'UTR|TTYH2_ENST00000529107.1_Missense_Mutation_p.W236L	NM_032646.5	NP_116035.5	Q9BSA4	TTYH2_HUMAN	tweety family member 2	257						chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)	p.W257L(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(14)|ovary(3)|pancreas(1)|stomach(3)|upper_aerodigestive_tract(1)	36						CTCCTCAGTTGGGCATCCCTG	0.652																																							uc002jkc.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(1)	4						c.(769-771)TGG>TTG		tweety 2 isoform 1							75.0	69.0	71.0					17																	72240154		2203	4300	6503	SO:0001583	missense	94015					chloride channel complex|plasma membrane	chloride channel activity|protein binding	g.chr17:72240154G>T		CCDS32717.1, CCDS45770.1	17q25.1	2013-09-02	2013-09-02		ENSG00000141540	ENSG00000141540			13877	protein-coding gene	gene with protein product		608855	"""tweety (Drosophila) homolog 2"", ""tweety homolog 2 (Drosophila)"""			11597145	Standard	XM_005257824		Approved	C17orf29	uc002jkc.3	Q9BSA4	OTTHUMG00000166018	ENST00000269346.4:c.770G>T	17.37:g.72240154G>T	ENSP00000269346:p.Trp257Leu					TTYH2_uc010wqw.1_Missense_Mutation_p.W236L	p.W257L	NM_032646	NP_116035	Q9BSA4	TTYH2_HUMAN			6	801	+			257			Helical; Name=4; (Potential).		B3KX97|Q3B7H8|Q3B7R9|Q6AWB4|Q8NBB7|Q96PK1	Missense_Mutation	SNP	ENST00000269346.4	37	c.770G>T	CCDS32717.1	.	.	.	.	.	.	.	.	.	.	G	18.37	3.608746	0.66558	.	.	ENSG00000141540	ENST00000269346;ENST00000529107	T;T	0.36699	1.24;1.24	5.21	5.21	0.72293	.	0.178904	0.52532	D	0.000062	T	0.67230	0.2871	M	0.89785	3.06	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.74348	0.975;0.983	T	0.75235	-0.3389	10	0.87932	D	0	-14.9885	16.5403	0.84383	0.0:0.0:1.0:0.0	.	236;257	B4DKD1;Q9BSA4	.;TTYH2_HUMAN	L	257;236	ENSP00000269346:W257L;ENSP00000433089:W236L	ENSP00000269346:W257L	W	+	2	0	TTYH2	69751749	1.000000	0.71417	0.999000	0.59377	0.117000	0.20001	8.087000	0.89521	2.440000	0.82611	0.446000	0.29264	TGG		0.652	TTYH2-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387459.1			8	52	1	0	0.000442599	0.006214	0.000486383	8	52				
GPR142	350383	broad.mit.edu	37	17	72368433	72368433	+	Silent	SNP	C	C	G			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr17:72368433C>G	ENST00000335666.4	+	4	1131	c.1083C>G	c.(1081-1083)ggC>ggG	p.G361G		NM_181790.1	NP_861455.1	Q7Z601	GP142_HUMAN	G protein-coupled receptor 142	361						cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.G361G(1)		central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4)	35						TCCTCCTGGGCATCACCACAC	0.662																																							uc010wqy.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)|skin(1)	4						c.(1081-1083)GGC>GGG		G protein-coupled receptor 142							113.0	95.0	101.0					17																	72368433		2203	4300	6503	SO:0001819	synonymous_variant	350383					cell junction|cytoplasm|integral to membrane	G-protein coupled receptor activity	g.chr17:72368433C>G	AY255622	CCDS11698.1	17q25.2	2012-08-21				ENSG00000257008		"""GPCR / Class A : Orphans"""	20088	protein-coding gene	gene with protein product		609046				14623098	Standard	NM_181790		Approved	PGR2	uc010wqy.2	Q7Z601		ENST00000335666.4:c.1083C>G	17.37:g.72368433C>G						GPR142_uc010wqx.1_Silent_p.G273G	p.G361G	NM_181790	NP_861455	Q7Z601	GP142_HUMAN			4	1083	+			361			Helical; Name=6; (Potential).		A4CYJ8|Q86SL3	Silent	SNP	ENST00000335666.4	37	c.1083C>G	CCDS11698.1																																																																																				0.662	GPR142-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442545.1	NM_181790		33	35	0	0	0	0.003271	0	33	35				
OTOP2	92736	broad.mit.edu	37	17	72921751	72921751	+	Silent	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr17:72921751G>T	ENST00000580223.1	+	2	444	c.414G>T	c.(412-414)ctG>ctT	p.L138L	OTOP2_ENST00000331427.4_Silent_p.L138L|USH1G_ENST00000319642.1_5'Flank			Q7RTS6	OTOP2_HUMAN	otopetrin 2	138						integral component of membrane (GO:0016021)		p.L138L(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|prostate(4)|skin(1)|urinary_tract(2)	39	all_lung(278;0.172)|Lung NSC(278;0.207)					TCAAGATCCTGCACCCCCTCA	0.537																																							uc010wrp.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)|large_intestine(1)	4						c.(412-414)CTG>CTT		otopetrin 2							143.0	128.0	133.0					17																	72921751		2203	4300	6503	SO:0001819	synonymous_variant	92736					integral to membrane		g.chr17:72921751G>T	BK000567	CCDS11708.1	17q25.3	2006-09-20				ENSG00000183034			19657	protein-coding gene	gene with protein product		607827				12651873	Standard	NM_178160		Approved		uc010wrp.2	Q7RTS6		ENST00000580223.1:c.414G>T	17.37:g.72921751G>T						USH1G_uc002jme.1_5'Flank|USH1G_uc010wro.1_5'Flank|OTOP2_uc002jmf.1_Silent_p.L138L	p.L138L	NM_178160	NP_835454	Q7RTS6	OTOP2_HUMAN			4	503	+	all_lung(278;0.172)|Lung NSC(278;0.207)		138			Helical; (Potential).			Silent	SNP	ENST00000580223.1	37	c.414G>T	CCDS11708.1																																																																																				0.537	OTOP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445306.1	NM_178160		40	54	1	0	6.07928e-31	0.009718	1.1317e-30	40	54				
MIF4GD	57409	broad.mit.edu	37	17	73262985	73262985	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr17:73262985G>T	ENST00000325102.8	-	6	629	c.505C>A	c.(505-507)Cgc>Agc	p.R169S	MIF4GD_ENST00000577542.1_Missense_Mutation_p.R210S|MIF4GD_ENST00000580571.1_Missense_Mutation_p.R117S|MIF4GD_ENST00000579297.1_Missense_Mutation_p.R210S|MIF4GD_ENST00000245551.5_Missense_Mutation_p.R203S|MIF4GD_ENST00000578305.1_3'UTR|MIF4GD_ENST00000579119.1_Missense_Mutation_p.R198S	NM_001242501.1	NP_001229430.1	A9UHW6	MI4GD_HUMAN	MIF4G domain containing	169	MIF4G.				regulation of translation (GO:0006417)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)	p.R203S(1)		breast(2)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)	10	all_cancers(13;1.25e-07)|all_epithelial(9;2.63e-08)|Breast(9;1.06e-07)		all cancers(21;3.02e-07)|Epithelial(20;2.92e-06)			TCATCCATGCGCTGCCCATTC	0.592																																							uc002jnr.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(505-507)CGC>AGC		RecName: Full=MIF4G domain-containing protein; AltName: Full=SLBP-interacting protein 1;          Short=hSLIP1;							77.0	67.0	70.0					17																	73262985		2203	4300	6503	SO:0001583	missense	57409				regulation of translation|RNA metabolic process	cytoplasm|nucleus	protein C-terminus binding	g.chr17:73262985G>T	CR605810	CCDS11719.1, CCDS56044.1, CCDS58598.1	17q25.1	2005-12-15		2005-12-15					24030	protein-coding gene	gene with protein product		612072		MIFD			Standard	NM_001242498		Approved	AD023, MGC45027	uc002jnq.3	A9UHW6		ENST00000325102.8:c.505C>A	17.37:g.73262985G>T	ENSP00000321625:p.Arg169Ser					MIF4GD_uc002jno.2_Missense_Mutation_p.R210S|MIF4GD_uc002jnp.2_Missense_Mutation_p.R203S|MIF4GD_uc002jnq.2_Missense_Mutation_p.R210S	p.R169S			A9UHW6	MI4GD_HUMAN	all cancers(21;3.02e-07)|Epithelial(20;2.92e-06)		6	634	-	all_cancers(13;1.25e-07)|all_epithelial(9;2.63e-08)|Breast(9;1.06e-07)		169			MIF4G.		B4DUM7|Q8N4Q5|Q9HBL5	Missense_Mutation	SNP	ENST00000325102.8	37	c.505C>A	CCDS56044.1	.	.	.	.	.	.	.	.	.	.	G	13.62	2.291782	0.40594	.	.	ENSG00000125457	ENST00000245551;ENST00000325102	T;T	0.21734	1.99;1.99	5.52	3.34	0.38264	MIF4G-like, type 3 (1);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.051787	0.85682	D	0.000000	T	0.33440	0.0863	L	0.57536	1.79	0.80722	D	1	P;D;D	0.63046	0.956;0.992;0.987	P;P;P	0.57101	0.793;0.813;0.777	T	0.05194	-1.0900	10	0.38643	T	0.18	.	11.9277	0.52829	0.0705:0.0:0.7994:0.1301	.	169;203;210	A9UHW6;A9UHW6-2;B4DUM7	MI4GD_HUMAN;.;.	S	203;169	ENSP00000245551:R203S;ENSP00000321625:R169S	ENSP00000245551:R203S	R	-	1	0	MIF4GD	70774580	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.297000	0.72757	1.334000	0.45468	0.650000	0.86243	CGC		0.592	MIF4GD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446671.1	NM_020679		15	29	1	0	1.02788e-11	0.00499	1.50717e-11	15	29				
MIF4GD	57409	broad.mit.edu	37	17	73263869	73263869	+	Silent	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr17:73263869G>T	ENST00000325102.8	-	4	430	c.306C>A	c.(304-306)gtC>gtA	p.V102V	MIF4GD_ENST00000577542.1_Silent_p.V143V|MIF4GD_ENST00000580571.1_Intron|MIF4GD_ENST00000579297.1_Silent_p.V143V|MIF4GD_ENST00000245551.5_Silent_p.V136V|MIF4GD_ENST00000578305.1_Intron|MIF4GD_ENST00000579119.1_Silent_p.V102V	NM_001242501.1	NP_001229430.1	A9UHW6	MI4GD_HUMAN	MIF4G domain containing	102	MIF4G.				regulation of translation (GO:0006417)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)	p.V136V(1)		breast(2)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)	10	all_cancers(13;1.25e-07)|all_epithelial(9;2.63e-08)|Breast(9;1.06e-07)		all cancers(21;3.02e-07)|Epithelial(20;2.92e-06)			TGACATAGCAGACCCAGCCCT	0.622																																							uc002jnr.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(304-306)GTC>GTA		RecName: Full=MIF4G domain-containing protein; AltName: Full=SLBP-interacting protein 1;          Short=hSLIP1;							75.0	78.0	77.0					17																	73263869		2203	4300	6503	SO:0001819	synonymous_variant	57409				regulation of translation|RNA metabolic process	cytoplasm|nucleus	protein C-terminus binding	g.chr17:73263869G>T	CR605810	CCDS11719.1, CCDS56044.1, CCDS58598.1	17q25.1	2005-12-15		2005-12-15					24030	protein-coding gene	gene with protein product		612072		MIFD			Standard	NM_001242498		Approved	AD023, MGC45027	uc002jnq.3	A9UHW6		ENST00000325102.8:c.306C>A	17.37:g.73263869G>T						MIF4GD_uc002jno.2_Silent_p.V143V|MIF4GD_uc002jnp.2_Silent_p.V136V|MIF4GD_uc002jnq.2_Silent_p.V143V	p.V102V			A9UHW6	MI4GD_HUMAN	all cancers(21;3.02e-07)|Epithelial(20;2.92e-06)		4	435	-	all_cancers(13;1.25e-07)|all_epithelial(9;2.63e-08)|Breast(9;1.06e-07)		102			MIF4G.		B4DUM7|Q8N4Q5|Q9HBL5	Silent	SNP	ENST00000325102.8	37	c.306C>A	CCDS56044.1																																																																																				0.622	MIF4GD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446671.1	NM_020679		13	52	1	0	1.5842e-08	0.001855	2.06776e-08	13	52				
UNC13D	201294	broad.mit.edu	37	17	73836587	73836587	+	Splice_Site	SNP	C	C	T	rs201908137	byFrequency	TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr17:73836587C>T	ENST00000207549.4	-	9	1133		c.e9+1		UNC13D_ENST00000412096.2_Splice_Site|UNC13D_ENST00000587504.1_Splice_Site	NM_199242.2	NP_954712.1	Q70J99	UN13D_HUMAN	unc-13 homolog D (C. elegans)						defense response to virus (GO:0051607)|germinal center formation (GO:0002467)|granuloma formation (GO:0002432)|natural killer cell degranulation (GO:0043320)|phagocytosis (GO:0006909)|positive regulation of exocytosis (GO:0045921)|regulation of mast cell degranulation (GO:0043304)	endosome (GO:0005768)|exocytic vesicle (GO:0070382)|lysosome (GO:0005764)|membrane (GO:0016020)		p.?(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29			all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)			ATCCTCCTCACCTGCAGCCTC	0.622									Familial Hemophagocytic Lymphohistiocytosis																														uc002jpp.2		NA																	1	Unknown(1)		lung(1)	upper_aerodigestive_tract(1)|skin(1)	2	GRCh37	CS033138	UNC13D	S		c.e9+1		unc-13 homolog D							84.0	89.0	87.0					17																	73836587		2203	4300	6503	SO:0001630	splice_region_variant	201294	Familial_Hemophagocytic_Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	positive regulation of exocytosis|regulation of mast cell degranulation	exocytic vesicle|late endosome|lysosome|membrane|recycling endosome	protein binding	g.chr17:73836587C>T	AK024474	CCDS11730.1	17q25.3	2014-09-17				ENSG00000092929			23147	protein-coding gene	gene with protein product		608897					Standard	NM_199242		Approved	Munc13-4	uc002jpp.3	Q70J99		ENST00000207549.4:c.753+1G>A	17.37:g.73836587C>T						UNC13D_uc010wsk.1_Splice_Site_p.Q251_splice|UNC13D_uc002jpq.1_Splice_Site|UNC13D_uc010dgq.1_Splice_Site_p.Q48_splice	p.Q251_splice	NM_199242	NP_954712	Q70J99	UN13D_HUMAN	all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)		9	1133	-								B4DWG9|Q9H7K5	Splice_Site	SNP	ENST00000207549.4	37	c.753_splice	CCDS11730.1	.	.	.	.	.	.	.	.	.	.	C	18.72	3.684737	0.68157	.	.	ENSG00000092929	ENST00000207549;ENST00000412096;ENST00000448606	.	.	.	4.02	3.02	0.34903	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.4827	0.61345	0.0:0.8418:0.1582:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	UNC13D	71348182	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.472000	0.73567	0.874000	0.35823	0.551000	0.68910	.		0.622	UNC13D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448847.2	XM_113950	Intron	30	42	0	0	0	0.002445	0	30	42				
DCXR	51181	broad.mit.edu	37	17	79994492	79994492	+	Nonsense_Mutation	SNP	C	C	A	rs375839857		TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr17:79994492C>A	ENST00000306869.2	-	5	425	c.376G>T	c.(376-378)Gga>Tga	p.G126*	RP13-650J16.1_ENST00000584705.1_RNA|DCXR_ENST00000584318.1_5'UTR|RP13-650J16.1_ENST00000582558.1_RNA	NM_001195218.1|NM_016286.3	NP_001182147.1|NP_057370.1	Q7Z4W1	DCXR_HUMAN	dicarbonyl/L-xylulose reductase	126					D-xylose metabolic process (GO:0042732)|glucose metabolic process (GO:0006006)|NADP metabolic process (GO:0006739)|oxidation-reduction process (GO:0055114)|protein homotetramerization (GO:0051289)|xylulose metabolic process (GO:0005997)	brush border (GO:0005903)|cytoplasmic microtubule (GO:0005881)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microvillus (GO:0005902)|nucleus (GO:0005634)	L-xylulose reductase (NADP+) activity (GO:0050038)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)	p.G126*(1)		kidney(1)|lung(3)	4	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			CCTGGGACTCCCCGGGCTATT	0.622																																							uc002kdg.2		NA																	1	Substitution - Nonsense(1)		lung(1)		0						c.(376-378)GGA>TGA		dicarbonyl/L-xylulose reductase							47.0	52.0	50.0					17																	79994492		2203	4300	6503	SO:0001587	stop_gained	51181				D-xylose metabolic process|glucose metabolic process|protein homotetramerization|xylulose metabolic process	membrane	binding|L-xylulose reductase (NADP+) activity	g.chr17:79994492C>A	AB013846	CCDS11799.1	17q25.3	2011-09-14				ENSG00000169738	1.1.1.10	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	18985	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 20C, member 1"""	608347				11882650, 19027726	Standard	NM_016286		Approved	KIDCR, DCR, SDR20C1	uc002kdg.3	Q7Z4W1		ENST00000306869.2:c.376G>T	17.37:g.79994492C>A	ENSP00000303356:p.Gly126*						p.G126*	NM_016286	NP_057370	Q7Z4W1	DCXR_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)		5	391	-	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		126					Q9BTZ3|Q9UHY9	Nonsense_Mutation	SNP	ENST00000306869.2	37	c.376G>T	CCDS11799.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.929601	0.92389	.	.	ENSG00000169738	ENST00000306869	.	.	.	5.12	5.12	0.69794	.	0.136289	0.49305	D	0.000159	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.5287	0.90983	0.0:1.0:0.0:0.0	.	.	.	.	X	126	.	.	G	-	1	0	DCXR	77587781	1.000000	0.71417	0.860000	0.33809	0.509000	0.34042	5.611000	0.67674	2.355000	0.79922	0.655000	0.94253	GGA		0.622	DCXR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442153.2			12	30	1	0	2.27111e-07	0.001368	2.83058e-07	12	30				
COLEC12	81035	broad.mit.edu	37	18	346494	346494	+	Silent	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr18:346494G>T	ENST00000400256.3	-	5	1335	c.1128C>A	c.(1126-1128)acC>acA	p.T376T		NM_130386.2	NP_569057	Q5KU26	COL12_HUMAN	collectin sub-family member 12	376					carbohydrate mediated signaling (GO:0009756)|defense response (GO:0006952)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)|phagocytosis, recognition (GO:0006910)|protein homooligomerization (GO:0051260)|receptor-mediated endocytosis (GO:0006898)	collagen trimer (GO:0005581)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	galactose binding (GO:0005534)|low-density lipoprotein particle binding (GO:0030169)|metal ion binding (GO:0046872)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)	p.T376T(1)		cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				CTGTGTGTTTGGTAAGGGTAT	0.458																																							uc002kkm.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(1126-1128)ACC>ACA		collectin sub-family member 12							239.0	197.0	211.0					18																	346494		2203	4300	6503	SO:0001819	synonymous_variant	81035				carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization	collagen|integral to membrane	galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity	g.chr18:346494G>T	AB038518	CCDS32782.1	18p11.32	2013-09-19			ENSG00000158270	ENSG00000158270		"""Collectins"""	16016	protein-coding gene	gene with protein product		607621				11162630	Standard	NM_130386		Approved	SRCL, CL-P1, SCARA4	uc002kkm.3	Q5KU26	OTTHUMG00000178145	ENST00000400256.3:c.1128C>A	18.37:g.346494G>T							p.T376T	NM_130386	NP_569057	Q5KU26	COL12_HUMAN			5	1343	-		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)	376			Extracellular (Potential).		Q6P9F2|Q8TCR2|Q8WZA4|Q9BY85|Q9BYH7	Silent	SNP	ENST00000400256.3	37	c.1128C>A	CCDS32782.1																																																																																				0.458	COLEC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440746.1			19	50	1	0	2.35188e-11	0.006122	3.42396e-11	19	50				
EMILIN2	84034	broad.mit.edu	37	18	2847926	2847926	+	Missense_Mutation	SNP	T	T	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr18:2847926T>A	ENST00000254528.3	+	2	413	c.254T>A	c.(253-255)cTg>cAg	p.L85Q		NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2	85	EMI. {ECO:0000255|PROSITE- ProRule:PRU00384}.				cell adhesion (GO:0007155)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix constituent conferring elasticity (GO:0030023)	p.L85Q(1)		breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		CCGTCGGCGCTGGTGTAAGTC	0.657																																							uc002kln.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(253-255)CTG>CAG		elastin microfibril interfacer 2 precursor							42.0	42.0	42.0					18																	2847926		2203	4300	6503	SO:0001583	missense	84034				cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding	g.chr18:2847926T>A	AF270513	CCDS11828.1	18p11.3	2008-02-05			ENSG00000132205	ENSG00000132205		"""EMI domain containing"""	19881	protein-coding gene	gene with protein product		608928					Standard	NM_032048		Approved	FLJ33200, FOAP-10	uc002kln.3	Q9BXX0	OTTHUMG00000128525	ENST00000254528.3:c.254T>A	18.37:g.2847926T>A	ENSP00000254528:p.Leu85Gln						p.L85Q	NM_032048	NP_114437	Q9BXX0	EMIL2_HUMAN		READ - Rectum adenocarcinoma(2;0.1)	2	413	+			85			EMI.		B2RMY3|Q8NBH3|Q96JQ4	Missense_Mutation	SNP	ENST00000254528.3	37	c.254T>A	CCDS11828.1	.	.	.	.	.	.	.	.	.	.	T	12.81	2.048487	0.36181	.	.	ENSG00000132205	ENST00000254528	T	0.38077	1.16	5.46	4.1	0.47936	EMI domain (2);	0.747577	0.12100	N	0.499586	T	0.40815	0.1132	L	0.27053	0.805	0.32341	N	0.559705	D	0.58970	0.984	P	0.59643	0.861	T	0.42224	-0.9464	10	0.44086	T	0.13	-19.1321	9.7545	0.40496	0.0:0.1506:0.0:0.8494	.	85	Q9BXX0	EMIL2_HUMAN	Q	85	ENSP00000254528:L85Q	ENSP00000254528:L85Q	L	+	2	0	EMILIN2	2837926	1.000000	0.71417	0.991000	0.47740	0.846000	0.48090	1.422000	0.34826	2.071000	0.62044	0.454000	0.30748	CTG		0.657	EMILIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250337.2	NM_032048		7	20	0	0	0	0.00308	0	7	20				
LRRC30	339291	broad.mit.edu	37	18	7231772	7231772	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr18:7231772G>C	ENST00000383467.2	+	1	650	c.636G>C	c.(634-636)caG>caC	p.Q212H		NM_001105581.1	NP_001099051.1	A6NM36	LRC30_HUMAN	leucine rich repeat containing 30	212								p.Q212H(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						CCAGCCTGCAGATCTTCATCG	0.547																																							uc010wzk.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|liver(1)	2						c.(634-636)CAG>CAC		leucine rich repeat containing 30							64.0	69.0	68.0					18																	7231772		2134	4254	6388	SO:0001583	missense	339291							g.chr18:7231772G>C		CCDS42409.1	18p11.23	2005-01-06				ENSG00000206422			30219	protein-coding gene	gene with protein product							Standard	NM_001105581		Approved		uc010wzk.2	A6NM36		ENST00000383467.2:c.636G>C	18.37:g.7231772G>C	ENSP00000372959:p.Gln212His						p.Q212H	NM_001105581	NP_001099051	A6NM36	LRC30_HUMAN			1	636	+			212			LRR 7.			Missense_Mutation	SNP	ENST00000383467.2	37	c.636G>C	CCDS42409.1	.	.	.	.	.	.	.	.	.	.	G	16.32	3.090621	0.55968	.	.	ENSG00000206422	ENST00000383467	T	0.25912	1.77	5.95	5.08	0.68730	.	0.050023	0.85682	D	0.000000	T	0.45458	0.1343	M	0.75264	2.295	0.44603	D	0.997572	D	0.67145	0.996	P	0.59703	0.862	T	0.34875	-0.9811	10	0.52906	T	0.07	.	12.6954	0.57001	0.13:0.0:0.87:0.0	.	212	A6NM36	LRC30_HUMAN	H	212	ENSP00000372959:Q212H	ENSP00000372959:Q212H	Q	+	3	2	LRRC30	7221772	1.000000	0.71417	1.000000	0.80357	0.327000	0.28475	3.568000	0.53820	2.827000	0.97445	0.650000	0.86243	CAG		0.547	LRRC30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442140.1	XM_292678		18	24	0	0	0	0.010504	0	18	24				
LRRC30	339291	broad.mit.edu	37	18	7231799	7231799	+	Silent	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr18:7231799C>A	ENST00000383467.2	+	1	677	c.663C>A	c.(661-663)atC>atA	p.I221I		NM_001105581.1	NP_001099051.1	A6NM36	LRC30_HUMAN	leucine rich repeat containing 30	221								p.I221I(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						GCAACAACATCCACTCCTTCC	0.567																																							uc010wzk.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|liver(1)	2						c.(661-663)ATC>ATA		leucine rich repeat containing 30							59.0	64.0	62.0					18																	7231799		2122	4246	6368	SO:0001819	synonymous_variant	339291							g.chr18:7231799C>A		CCDS42409.1	18p11.23	2005-01-06				ENSG00000206422			30219	protein-coding gene	gene with protein product							Standard	NM_001105581		Approved		uc010wzk.2	A6NM36		ENST00000383467.2:c.663C>A	18.37:g.7231799C>A							p.I221I	NM_001105581	NP_001099051	A6NM36	LRC30_HUMAN			1	663	+			221			LRR 7.			Silent	SNP	ENST00000383467.2	37	c.663C>A	CCDS42409.1																																																																																				0.567	LRRC30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442140.1	XM_292678		12	17	1	0	7.93312e-07	0.00245	9.7214e-07	12	17				
MTCL1	23255	broad.mit.edu	37	18	8783929	8783929	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr18:8783929G>T	ENST00000306329.11	+	5	1899	c.1899G>T	c.(1897-1899)gaG>gaT	p.E633D	SOGA2_ENST00000306285.7_5'UTR|SOGA2_ENST00000400050.3_Missense_Mutation_p.E273D|SOGA2_ENST00000517570.1_Missense_Mutation_p.E273D|SOGA2_ENST00000359865.3_Missense_Mutation_p.E273D														p.E273D(1)									CCTCCACTGAGCTCCGCCGCC	0.642																																							uc002knr.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(817-819)GAG>GAT		hypothetical protein LOC23255							71.0	77.0	75.0					18																	8783929		2203	4299	6502	SO:0001583	missense	23255							g.chr18:8783929G>T																												ENST00000306329.11:c.1899G>T	18.37:g.8783929G>T	ENSP00000305027:p.Glu633Asp					KIAA0802_uc002knq.2_Missense_Mutation_p.E273D|KIAA0802_uc010dkw.1_Missense_Mutation_p.E111D	p.E273D	NM_015210	NP_056025	Q9Y4B5	CC165_HUMAN			6	961	+			624			Potential.			Missense_Mutation	SNP	ENST00000306329.11	37	c.819G>T		.	.	.	.	.	.	.	.	.	.	G	9.486	1.099423	0.20552	.	.	ENSG00000168502	ENST00000306329;ENST00000517570;ENST00000359865;ENST00000400050	T;T;T	0.20069	2.1;2.17;2.1	5.81	4.01	0.46588	.	0.000000	0.56097	D	0.000036	T	0.47192	0.1432	M	0.85945	2.785	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.43410	-0.9393	10	0.37606	T	0.19	-37.0491	10.6925	0.45879	0.2069:0.0:0.7931:0.0	.	294;273	A8MQ54;Q9Y4B5-3	.;.	D	294;273;273;273	ENSP00000429556:E273D;ENSP00000352927:E273D;ENSP00000382924:E273D	ENSP00000305027:E294D	E	+	3	2	CCDC165	8773929	1.000000	0.71417	0.997000	0.53966	0.578000	0.36192	3.497000	0.53295	0.792000	0.33850	0.650000	0.86243	GAG		0.642	SOGA2-015	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000444141.1			46	102	1	0	1.51926e-22	0.00361	2.70502e-22	46	102				
SPIRE1	56907	broad.mit.edu	37	18	12496079	12496079	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr18:12496079C>A	ENST00000409402.4	-	7	1262	c.995G>T	c.(994-996)cGg>cTg	p.R332L	SPIRE1_ENST00000453447.2_Missense_Mutation_p.R212L|SPIRE1_ENST00000464481.1_5'Flank|SPIRE1_ENST00000383356.2_Missense_Mutation_p.R173L|SPIRE1_ENST00000309836.5_Missense_Mutation_p.R135L|SPIRE1_ENST00000410092.3_Missense_Mutation_p.R332L	NM_001128626.1	NP_001122098.1			spire-type actin nucleation factor 1									p.R173L(1)|p.R332L(1)		breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)	28						CTTTTTTAACCGAGGGGGAAT	0.373																																							uc002kre.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(994-996)CGG>CTG		spire homolog 1 isoform a							108.0	107.0	107.0					18																	12496079		2203	4300	6503	SO:0001583	missense	56907					cytoskeleton|perinuclear region of cytoplasm	actin binding	g.chr18:12496079C>A	AL833817	CCDS32790.2, CCDS45829.1, CCDS45830.1	18p11.21	2013-08-27	2013-08-27		ENSG00000134278	ENSG00000134278			30622	protein-coding gene	gene with protein product		609216	"""spire homolog 1 (Drosophila)"", ""spire family actin nucleation factor 1"""			10574461, 11747823	Standard	NM_001128626		Approved	spir-1, KIAA1135	uc002kre.3	Q08AE8	OTTHUMG00000153940	ENST00000409402.4:c.995G>T	18.37:g.12496079C>A	ENSP00000387266:p.Arg332Leu					SPIRE1_uc002krc.2_RNA|SPIRE1_uc010wzw.1_Missense_Mutation_p.R212L|SPIRE1_uc010wzx.1_Missense_Mutation_p.R135L|SPIRE1_uc010wzy.1_Missense_Mutation_p.R332L	p.R332L	NM_001128626	NP_001122098	Q08AE8	SPIR1_HUMAN			7	1042	-			332						Missense_Mutation	SNP	ENST00000409402.4	37	c.995G>T	CCDS45829.1	.	.	.	.	.	.	.	.	.	.	C	33	5.200830	0.94997	.	.	ENSG00000134278	ENST00000453447;ENST00000409402;ENST00000410092;ENST00000309836;ENST00000383356	T;T;T;T;T	0.52057	0.73;1.27;1.27;0.69;0.68	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.65471	0.2694	L	0.45698	1.435	0.80722	D	1	P;D;D	0.89917	0.94;1.0;1.0	P;D;D	0.85130	0.882;0.997;0.989	T	0.65615	-0.6125	10	0.72032	D	0.01	-17.2615	19.9598	0.97242	0.0:1.0:0.0:0.0	.	332;135;332	Q08AE8-2;B4DWX0;Q08AE8	.;.;SPIR1_HUMAN	L	212;332;332;135;173	ENSP00000407050:R212L;ENSP00000387266:R332L;ENSP00000387226:R332L;ENSP00000309661:R135L;ENSP00000372847:R173L	ENSP00000309661:R135L	R	-	2	0	SPIRE1	12486079	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.471000	0.53107	2.716000	0.92895	0.655000	0.94253	CGG		0.373	SPIRE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333109.2	XM_290818		13	71	1	0	2.68362e-12	0.001368	4.01561e-12	13	71				
DSG2	1829	broad.mit.edu	37	18	29111028	29111028	+	Missense_Mutation	SNP	A	A	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr18:29111028A>T	ENST00000261590.8	+	9	1302	c.1093A>T	c.(1093-1095)Agg>Tgg	p.R365W		NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	365	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell adhesion (GO:0007155)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)|maternal process involved in female pregnancy (GO:0060135)|regulation of heart rate by cardiac conduction (GO:0086091)|response to progesterone (GO:0032570)|ventricular cardiac muscle cell action potential (GO:0086005)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R365W(1)		breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			CAAGTCGATTAGGAGTAAATA	0.363																																							uc002kwu.3		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(5)|ovary(2)|breast(1)|skin(1)	9						c.(1093-1095)AGG>TGG		desmoglein 2 preproprotein							136.0	124.0	128.0					18																	29111028		1849	4090	5939	SO:0001583	missense	1829				cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	g.chr18:29111028A>T	Z26317	CCDS42423.1	18q12.1	2014-09-17				ENSG00000046604		"""Cadherins / Major cadherins"""	3049	protein-coding gene	gene with protein product		125671				1612610	Standard	NM_001943		Approved	CDHF5	uc002kwu.4	Q14126		ENST00000261590.8:c.1093A>T	18.37:g.29111028A>T	ENSP00000261590:p.Arg365Trp						p.R365W	NM_001943	NP_001934	Q14126	DSG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.0068)		9	1281	+			365			Extracellular (Potential).|Cadherin 3.		Q4KKU6	Missense_Mutation	SNP	ENST00000261590.8	37	c.1093A>T	CCDS42423.1	.	.	.	.	.	.	.	.	.	.	A	12.96	2.094817	0.36952	.	.	ENSG00000046604	ENST00000261590	T	0.53640	0.61	4.83	1.1	0.20463	Cadherin (4);Cadherin-like (1);	1.136670	0.06711	N	0.773231	T	0.45816	0.1361	L	0.38175	1.15	0.09310	N	1	D	0.56968	0.978	P	0.50754	0.649	T	0.34079	-0.9843	10	0.39692	T	0.17	.	7.2763	0.26286	0.6243:0.3015:0.0742:0.0	.	365	Q14126	DSG2_HUMAN	W	365	ENSP00000261590:R365W	ENSP00000261590:R365W	R	+	1	2	DSG2	27365026	0.000000	0.05858	0.000000	0.03702	0.409000	0.31022	-0.306000	0.08178	0.036000	0.15547	0.482000	0.46254	AGG		0.363	DSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447506.1	NM_001943		22	48	0	0	0	0.010504	0	22	48				
GAREM	64762	broad.mit.edu	37	18	29867399	29867399	+	Silent	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr18:29867399C>A	ENST00000269209.6	-	4	1164	c.1161G>T	c.(1159-1161)tcG>tcT	p.S387S	GAREM_ENST00000399218.4_Silent_p.S387S|GAREM_ENST00000578619.1_5'Flank|RP11-344B2.2_ENST00000579580.1_RNA			Q9H706	GAREM_HUMAN	GRB2 associated, regulator of MAPK1	387					cellular response to epidermal growth factor stimulus (GO:0071364)|epidermal growth factor receptor signaling pathway (GO:0007173)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)	plasma membrane (GO:0005886)	proline-rich region binding (GO:0070064)	p.S387S(1)									ACACACAGACCGAGAGTCGGT	0.587																																							uc002kxl.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(1159-1161)TCG>TCT		family with sequence similarity 59, member A							105.0	97.0	100.0					18																	29867399		2203	4300	6503	SO:0001819	synonymous_variant	64762							g.chr18:29867399C>A	AK025263	CCDS11905.1, CCDS56057.1	18q12.1	2012-11-30	2012-11-30	2012-11-30	ENSG00000141441	ENSG00000141441			26136	protein-coding gene	gene with protein product	"""Grb2-associated and regulator of Erk/MAPK"""		"""chromosome 18 open reading frame 11"", ""family with sequence similarity 59, member A"""	C18orf11, FAM59A		19509291	Standard	NM_001242409		Approved	FLJ21610	uc002kxl.3	Q9H706	OTTHUMG00000132273	ENST00000269209.6:c.1161G>T	18.37:g.29867399C>A						FAM59A_uc002kxk.1_Silent_p.S387S	p.S387S	NM_022751	NP_073588	Q9H706	FA59A_HUMAN			4	1217	-			387					Q0VAG3|Q0VAG4|Q8ND03|Q9BSF5	Silent	SNP	ENST00000269209.6	37	c.1161G>T	CCDS56057.1																																																																																				0.587	GAREM-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255365.1	NM_022751		12	44	1	0	4.3838e-07	0.001855	5.43719e-07	12	44				
NOL4	8715	broad.mit.edu	37	18	31599524	31599524	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr18:31599524C>A	ENST00000261592.5	-	6	1111	c.814G>T	c.(814-816)Ggg>Tgg	p.G272W	NOL4_ENST00000589544.1_Missense_Mutation_p.G272W|NOL4_ENST00000535384.1_5'UTR|NOL4_ENST00000538587.1_Missense_Mutation_p.G198W|NOL4_ENST00000535475.1_Missense_Mutation_p.G117W|NOL4_ENST00000269185.4_Missense_Mutation_p.G158W	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	272						nucleolus (GO:0005730)	RNA binding (GO:0003723)	p.G272W(1)		NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						GAACTGTGCCCCAGAGTCTCA	0.433																																							uc010dmi.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(814-816)GGG>TGG		nucleolar protein 4							111.0	103.0	106.0					18																	31599524		2203	4300	6503	SO:0001583	missense	8715					nucleolus	RNA binding	g.chr18:31599524C>A	AB017800	CCDS11907.2, CCDS56058.1, CCDS56059.1, CCDS59308.1	18q12	2010-05-04			ENSG00000101746	ENSG00000101746			7870	protein-coding gene	gene with protein product	"""cancer/testis antigen 125"""	603577				9813152	Standard	NM_003787		Approved	NOLP, HRIHFB2255, CT125	uc010dmi.3	O94818	OTTHUMG00000132291	ENST00000261592.5:c.814G>T	18.37:g.31599524C>A	ENSP00000261592:p.Gly272Trp					NOL4_uc010xbs.1_5'UTR|NOL4_uc002kxr.3_Missense_Mutation_p.G108W|NOL4_uc010xbt.1_Missense_Mutation_p.G198W|NOL4_uc010dmh.2_Missense_Mutation_p.G198W|NOL4_uc010xbu.1_Missense_Mutation_p.G272W|NOL4_uc002kxt.3_Missense_Mutation_p.G272W|NOL4_uc010xbv.1_Missense_Mutation_p.G21W|NOL4_uc010xbw.1_Missense_Mutation_p.G158W	p.G272W	NM_003787	NP_003778	O94818	NOL4_HUMAN			6	1043	-			272					B4DSQ0|B7Z3Z7|F5H1E3|Q6IBS2|Q9BWF1	Missense_Mutation	SNP	ENST00000261592.5	37	c.814G>T	CCDS11907.2	.	.	.	.	.	.	.	.	.	.	C	20.9	4.063000	0.76187	.	.	ENSG00000101746	ENST00000261592;ENST00000269185;ENST00000399171;ENST00000535475;ENST00000538587	D;D;D;D	0.84070	-1.8;-1.8;-1.8;-1.8	5.61	5.61	0.85477	.	0.177912	0.39407	N	0.001373	D	0.89223	0.6654	L	0.47716	1.5	0.54753	D	0.999985	D;D;D;D;D;D	0.89917	0.999;1.0;0.998;0.999;1.0;1.0	D;D;P;D;D;D	0.91635	0.984;0.999;0.847;0.912;0.998;0.996	D	0.89717	0.3916	10	0.87932	D	0	-14.2947	19.6551	0.95832	0.0:1.0:0.0:0.0	.	158;21;198;272;272;117	B4DLW2;F8W825;B4DSQ0;O94818;O94818-2;B3KRF4	.;.;.;NOL4_HUMAN;.;.	W	272;158;21;117;198	ENSP00000261592:G272W;ENSP00000269185:G158W;ENSP00000438190:G117W;ENSP00000443472:G198W	ENSP00000261592:G272W	G	-	1	0	NOL4	29853522	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.669000	0.68081	2.650000	0.89964	0.637000	0.83480	GGG		0.433	NOL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255386.1	NM_003787		12	71	1	0	1.15088e-07	0.004007	1.44674e-07	12	71				
DTNA	1837	broad.mit.edu	37	18	32407638	32407638	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr18:32407638G>T	ENST00000399113.3	+	10	1092	c.1092G>T	c.(1090-1092)agG>agT	p.R364S	DTNA_ENST00000598774.1_Missense_Mutation_p.R364S|DTNA_ENST00000399097.3_Missense_Mutation_p.R43S|DTNA_ENST00000598142.1_Missense_Mutation_p.R364S|DTNA_ENST00000596745.1_Intron|DTNA_ENST00000597599.1_Missense_Mutation_p.R361S|DTNA_ENST00000601125.1_Missense_Mutation_p.R43S|DTNA_ENST00000597674.1_Missense_Mutation_p.R43S|DTNA_ENST00000283365.9_Missense_Mutation_p.R364S|DTNA_ENST00000269191.6_Missense_Mutation_p.R364S|DTNA_ENST00000399121.5_Missense_Mutation_p.R361S|DTNA_ENST00000598334.1_Missense_Mutation_p.R361S|DTNA_ENST00000269190.7_Missense_Mutation_p.R365S|DTNA_ENST00000348997.5_Missense_Mutation_p.R361S|DTNA_ENST00000556414.3_Missense_Mutation_p.R43S|DTNA_ENST00000599844.1_Missense_Mutation_p.R43S|DTNA_ENST00000595022.1_Missense_Mutation_p.R361S|DTNA_ENST00000269192.7_Missense_Mutation_p.R43S|DTNA_ENST00000591182.1_Missense_Mutation_p.R43S|DTNA_ENST00000554864.3_Missense_Mutation_p.R361S|DTNA_ENST00000315456.6_Missense_Mutation_p.R364S|DTNA_ENST00000444659.1_Missense_Mutation_p.R364S			Q9Y4J8	DTNA_HUMAN	dystrobrevin, alpha	364					neuromuscular synaptic transmission (GO:0007274)|signal transduction (GO:0007165)|striated muscle contraction (GO:0006941)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)	p.R361S(2)|p.R364S(2)|p.R43S(1)|p.R365S(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						TTATTACCAGGAGGTAAGTTC	0.438																																							uc010dmn.1		NA																	6	Substitution - Missense(6)		lung(6)		0						c.(1090-1092)AGG>AGT		dystrobrevin alpha isoform 1							105.0	99.0	101.0					18																	32407638		2203	4300	6503	SO:0001583	missense	1837				neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding	g.chr18:32407638G>T	U84540	CCDS11908.1, CCDS11909.1, CCDS42426.1, CCDS45848.1, CCDS56060.1, CCDS56061.1, CCDS56062.1, CCDS56063.1, CCDS59309.1, CCDS59310.1, CCDS59311.1, CCDS59312.1, CCDS59313.1, CCDS59314.1	18q12	2014-09-17			ENSG00000134769	ENSG00000134769			3057	protein-coding gene	gene with protein product	"""dystrophin-related protein 3"""	601239				8081380, 15834686	Standard	NM_001390		Approved	D18S892E, DTN, DTN-1, DTN-2, DTN-3, DRP3	uc010dmn.1	Q9Y4J8	OTTHUMG00000132309	ENST00000399113.3:c.1092G>T	18.37:g.32407638G>T	ENSP00000382064:p.Arg364Ser					DTNA_uc002kxu.2_Missense_Mutation_p.R364S|DTNA_uc010xbx.1_Intron|DTNA_uc002kxv.3_Missense_Mutation_p.R364S|DTNA_uc002kxw.2_Missense_Mutation_p.R364S|DTNA_uc002kxx.2_Missense_Mutation_p.R361S|DTNA_uc010dmj.2_Missense_Mutation_p.R361S|DTNA_uc002kxz.2_Missense_Mutation_p.R361S|DTNA_uc002kxy.2_Missense_Mutation_p.R361S|DTNA_uc010dmk.1_RNA|DTNA_uc010dml.2_Missense_Mutation_p.R361S|DTNA_uc002kyb.3_Missense_Mutation_p.R361S|DTNA_uc010dmm.2_Missense_Mutation_p.R364S|DTNA_uc010xby.1_Missense_Mutation_p.R111S|DTNA_uc010dmo.2_Missense_Mutation_p.R43S|DTNA_uc002kyd.3_Missense_Mutation_p.R43S|DTNA_uc010xbz.1_Missense_Mutation_p.R43S|DTNA_uc010xca.1_Missense_Mutation_p.R43S|DTNA_uc002kye.2_Missense_Mutation_p.R43S	p.R364S	NM_001390	NP_001381	Q9Y4J8	DTNA_HUMAN			10	1093	+			364					A8K541|A8MSZ0|A8MUY4|B4DGS6|B4DIR0|B4DIU8|M0QYX6|M0R397|O15332|O15333|O75697|Q13197|Q13198|Q13199|Q13498|Q13499|Q13500|Q59GK7|Q9BS59	Missense_Mutation	SNP	ENST00000399113.3	37	c.1092G>T	CCDS59311.1	.	.	.	.	.	.	.	.	.	.	G	19.98	3.927756	0.73327	.	.	ENSG00000134769	ENST00000399119;ENST00000283365;ENST00000315456;ENST00000556176;ENST00000399114;ENST00000269190;ENST00000399097;ENST00000348997;ENST00000399121;ENST00000444659;ENST00000269191;ENST00000399113;ENST00000269192;ENST00000450377;ENST00000556414	T;T;T;T;T;T;T	0.19532	2.2;2.17;2.22;2.14;2.22;2.24;2.22	5.77	3.97	0.46021	.	0.044020	0.85682	D	0.000000	T	0.12347	0.0300	L	0.29908	0.895	0.43114	D	0.994824	B;B;B;P;B;B;B;B;P;B;B;B;B;B;B;B	0.37500	0.104;0.312;0.245;0.486;0.091;0.147;0.004;0.014;0.597;0.071;0.008;0.007;0.001;0.053;0.187;0.024	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.36845	0.113;0.205;0.05;0.205;0.066;0.209;0.012;0.039;0.234;0.149;0.017;0.011;0.001;0.062;0.058;0.061	T	0.09185	-1.0686	10	0.10902	T	0.67	-20.5449	7.3621	0.26752	0.2722:0.0:0.7278:0.0	.	43;43;111;43;364;364;361;364;43;361;361;372;361;364;364;364	B4DIU8;B4DIR0;B7Z3X3;Q9Y4J8-8;Q9Y4J8;Q9Y4J8-3;A8K541;F5H5C1;Q9Y4J8-6;Q9Y4J8-4;E9PEH8;Q59GK7;Q9BS59;Q9Y4J8-2;Q9Y4J8-5;Q9Y4J8-7	.;.;.;.;DTNA_HUMAN;.;.;.;.;.;.;.;.;.;.;.	S	364;364;364;361;361;365;43;361;364;364;364;364;43;43;43	ENSP00000283365:R364S;ENSP00000322519:R364S;ENSP00000269190:R365S;ENSP00000336682:R361S;ENSP00000405819:R364S;ENSP00000269191:R364S;ENSP00000382064:R364S	ENSP00000269190:R365S	R	+	3	2	DTNA	30661636	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.868000	0.56055	1.583000	0.49898	0.655000	0.94253	AGG		0.438	DTNA-005	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255422.2	NM_001390		14	63	1	0	0.00185496	0.001855	0.00201036	14	63				
SLC14A2	8170	broad.mit.edu	37	18	43204724	43204724	+	Nonsense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr18:43204724C>A	ENST00000255226.6	+	2	911	c.95C>A	c.(94-96)tCg>tAg	p.S32*	SLC14A2_ENST00000586448.1_Nonsense_Mutation_p.S32*	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	32					transmembrane transport (GO:0055085)|urea transport (GO:0015840)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|urea transmembrane transporter activity (GO:0015204)	p.S32*(1)		NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						AGCTGGCCCTCGACATCCCCG	0.572																																							uc010dnj.2		NA																	1	Substitution - Nonsense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)|skin(1)	4						c.(94-96)TCG>TAG		solute carrier family 14 (urea transporter),							82.0	77.0	78.0					18																	43204724		2203	4300	6503	SO:0001587	stop_gained	8170					apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity	g.chr18:43204724C>A	X96969	CCDS11924.1	18q12.1-q21.1	2013-05-22			ENSG00000132874	ENSG00000132874		"""Solute carriers"""	10919	protein-coding gene	gene with protein product		601611				8647271	Standard	NM_007163		Approved	HUT2, UT2	uc010dnj.3	Q15849	OTTHUMG00000132616	ENST00000255226.6:c.95C>A	18.37:g.43204724C>A	ENSP00000255226:p.Ser32*					SLC14A2_uc002lbb.2_Nonsense_Mutation_p.S32*|SLC14A2_uc002lbe.2_Nonsense_Mutation_p.S32*	p.S32*	NM_007163	NP_009094	Q15849	UT2_HUMAN			3	416	+			32					A8K8Q7|Q2TBD6|Q96PH5	Nonsense_Mutation	SNP	ENST00000255226.6	37	c.95C>A	CCDS11924.1	.	.	.	.	.	.	.	.	.	.	C	40	8.002143	0.98605	.	.	ENSG00000132874	ENST00000255226;ENST00000323329	.	.	.	5.31	4.43	0.53597	.	0.580520	0.16312	N	0.219969	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.1957	10.3918	0.44175	0.0:0.9058:0.0:0.0942	.	.	.	.	X	32	.	ENSP00000255226:S32X	S	+	2	0	SLC14A2	41458722	0.020000	0.18652	0.656000	0.29637	0.066000	0.16364	2.376000	0.44292	2.482000	0.83794	0.407000	0.27541	TCG		0.572	SLC14A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255858.1			9	42	1	0	3.86212e-05	0.008291	4.42498e-05	9	42				
TCEB3C	162699	broad.mit.edu	37	18	44554666	44554666	+	Silent	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr18:44554666G>T	ENST00000330682.2	-	1	1783	c.1548C>A	c.(1546-1548)ccC>ccA	p.P516P	KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000245121.5_Intron	NM_145653.3	NP_663628.2	Q8NG57	ELOA3_HUMAN	transcription elongation factor B polypeptide 3C (elongin A3)	516					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.P516P(1)		NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						TTTTGTccgcgggcgccgcgt	0.672																																							uc010xdb.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(1546-1548)CCC>CCA		transcription elongation factor B polypeptide							2.0	1.0	2.0					18																	44554666		516	964	1480	SO:0001819	synonymous_variant	162699				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	DNA binding	g.chr18:44554666G>T	AB076840	CCDS11931.1	18q21.1	2008-08-13			ENSG00000183791	ENSG00000183791			24617	protein-coding gene	gene with protein product	"""elongin A3"""					11932239, 11994304	Standard	NM_145653		Approved	HsT829, TCEB3L2	uc010xdb.2	Q8NG57	OTTHUMG00000132651	ENST00000330682.2:c.1548C>A	18.37:g.44554666G>T						KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron	p.P516P	NM_145653	NP_663628	Q8NG57	ELOA3_HUMAN			1	1784	-			516						Silent	SNP	ENST00000330682.2	37	c.1548C>A	CCDS11931.1																																																																																				0.672	TCEB3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255902.1	NM_145653		6	343	1	0	4.3838e-07	0.001855	5.43719e-07	6	343				
MAPK4	5596	broad.mit.edu	37	18	48255621	48255621	+	Silent	SNP	G	G	C			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr18:48255621G>C	ENST00000400384.2	+	6	2197	c.1161G>C	c.(1159-1161)gcG>gcC	p.A387A	MAPK4_ENST00000592595.1_3'UTR|MAPK4_ENST00000540640.1_Silent_p.A176A	NM_002747.3	NP_002738.2	P31152	MK04_HUMAN	mitogen-activated protein kinase 4	387					cell cycle (GO:0007049)|MAPK cascade (GO:0000165)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)	p.A387A(1)		lung(4)|skin(3)|upper_aerodigestive_tract(1)	8		Colorectal(6;0.0297)		Colorectal(21;0.156)		CGGGTTCGGCGCCACTGGCTG	0.697																																							uc002lev.2		NA																	1	Substitution - coding silent(1)		lung(1)	lung(4)|skin(2)	6						c.(1159-1161)GCG>GCC		mitogen-activated protein kinase 4							20.0	24.0	23.0					18																	48255621		2069	4172	6241	SO:0001819	synonymous_variant	5596				cell cycle		ATP binding|MAP kinase activity	g.chr18:48255621G>C	X59727	CCDS42437.1	18q21.1	2012-10-02			ENSG00000141639	ENSG00000141639		"""Mitogen-activated protein kinase cascade / Kinases"""	6878	protein-coding gene	gene with protein product		176949		PRKM4		8290275	Standard	XM_005258299		Approved	Erk3-related, Erk4	uc002lev.3	P31152	OTTHUMG00000179853	ENST00000400384.2:c.1161G>C	18.37:g.48255621G>C						MAPK4_uc010xdm.1_Silent_p.A176A|MAPK4_uc010doz.2_3'UTR	p.A387A	NM_002747	NP_002738	P31152	MK04_HUMAN		Colorectal(21;0.156)	6	2161	+		Colorectal(6;0.0297)	387					A1A4C4|Q0VG04	Silent	SNP	ENST00000400384.2	37	c.1161G>C	CCDS42437.1																																																																																				0.697	MAPK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448631.2	NM_002747		6	12	0	0	0	0.001168	0	6	12				
DCC	1630	broad.mit.edu	37	18	50432650	50432650	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr18:50432650C>A	ENST00000442544.2	+	3	1265	c.649C>A	c.(649-651)Cca>Aca	p.P217T	DCC_ENST00000412726.1_Missense_Mutation_p.P65T	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	217	Ig-like C2-type 2.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)	p.P217T(1)		NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		AGCTCGAAATCCAGCCAGCTC	0.483																																							uc002lfe.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	17						c.(649-651)CCA>ACA		netrin receptor DCC precursor							92.0	91.0	91.0					18																	50432650		2203	4300	6503	SO:0001583	missense	1630				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		g.chr18:50432650C>A	X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2701	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 1"""	120470	"""deleted in colorectal carcinoma"""			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.649C>A	18.37:g.50432650C>A	ENSP00000389140:p.Pro217Thr					DCC_uc010xdr.1_Missense_Mutation_p.P65T	p.P217T	NM_005215	NP_005206	P43146	DCC_HUMAN		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)	3	1236	+		all_cancers(7;0.11)|all_epithelial(6;0.00126)	217			Extracellular (Potential).|Ig-like C2-type 2.			Missense_Mutation	SNP	ENST00000442544.2	37	c.649C>A	CCDS11952.1	.	.	.	.	.	.	.	.	.	.	C	15.70	2.911583	0.52439	.	.	ENSG00000187323	ENST00000442544;ENST00000304775;ENST00000412726	T;T	0.66460	-0.21;-0.21	5.71	5.71	0.89125	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.61022	0.2314	N	0.25144	0.715	0.80722	D	1	B;P	0.38300	0.099;0.626	B;P	0.45377	0.33;0.478	T	0.54516	-0.8282	10	0.14656	T	0.56	.	18.622	0.91324	0.0:1.0:0.0:0.0	.	65;217	E7EQM8;P43146	.;DCC_HUMAN	T	217;150;65	ENSP00000389140:P217T;ENSP00000397322:P65T	ENSP00000304146:P150T	P	+	1	0	DCC	48686648	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.396000	0.66297	2.688000	0.91661	0.655000	0.94253	CCA		0.483	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3	NM_005215		10	41	1	0	0.00829132	0.008291	0.00875385	10	41				
DCC	1630	broad.mit.edu	37	18	51025666	51025666	+	Splice_Site	SNP	A	A	G			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr18:51025666A>G	ENST00000442544.2	+	27	4514		c.e27-1		DCC_ENST00000581580.1_Splice_Site|RP11-671P2.1_ENST00000582064.1_RNA	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor						anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)	p.?(1)		NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TCTCCACTGCAGCAGTGAGTG	0.498																																							uc002lfe.1		NA																	1	Unknown(1)		lung(1)	skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	17						c.e27-2		netrin receptor DCC precursor							135.0	117.0	123.0					18																	51025666		2203	4300	6503	SO:0001630	splice_region_variant	1630				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		g.chr18:51025666A>G	X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2701	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 1"""	120470	"""deleted in colorectal carcinoma"""			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.3899-1A>G	18.37:g.51025666A>G						DCC_uc010dpf.1_Splice_Site_p.T933_splice	p.S1300_splice	NM_005215	NP_005206	P43146	DCC_HUMAN		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)	27	4486	+		all_cancers(7;0.11)|all_epithelial(6;0.00126)							Splice_Site	SNP	ENST00000442544.2	37	c.3899_splice	CCDS11952.1	.	.	.	.	.	.	.	.	.	.	A	17.11	3.306073	0.60305	.	.	ENSG00000187323	ENST00000442544	.	.	.	6.04	6.04	0.98038	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5589	0.76223	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DCC	49279664	1.000000	0.71417	0.950000	0.38849	0.961000	0.63080	6.532000	0.73825	2.317000	0.78254	0.459000	0.35465	.		0.498	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3	NM_005215	Intron	7	36	0	0	0	0.00308	0	7	36				
WDR7	23335	broad.mit.edu	37	18	54444111	54444111	+	Splice_Site	SNP	G	G	T	rs113781282		TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr18:54444111G>T	ENST00000254442.3	+	17	3158	c.2947G>T	c.(2947-2949)Ggt>Tgt	p.G983C	WDR7_ENST00000357574.3_Intron|WDR7_ENST00000589935.1_Intron	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	983					hematopoietic progenitor cell differentiation (GO:0002244)			p.G983C(1)		NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		AGTAAATGAAGGTATCTCTCT	0.418																																							uc002lgk.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(2947-2949)GGT>TGT		rabconnectin-3 beta isoform 1							197.0	180.0	186.0					18																	54444111		2203	4300	6503	SO:0001630	splice_region_variant	23335							g.chr18:54444111G>T	AB011113	CCDS11962.1, CCDS11963.1	18q21.31	2013-01-09			ENSG00000091157	ENSG00000091157		"""WD repeat domain containing"""	13490	protein-coding gene	gene with protein product		613473				10828621	Standard	XM_005266674		Approved	KIAA0541, TRAG	uc002lgk.1	Q9Y4E6	OTTHUMG00000132721	ENST00000254442.3:c.2947+1G>T	18.37:g.54444111G>T						WDR7_uc010dpk.1_Intron|WDR7_uc002lgl.1_Intron	p.G983C	NM_015285	NP_056100	Q9Y4E6	WDR7_HUMAN		Lung(128;0.0238)|Colorectal(16;0.0296)	17	3158	+			983					A7E2C8|Q86UX5|Q86VP2|Q96PS7	Missense_Mutation	SNP	ENST00000254442.3	37	c.2947G>T	CCDS11962.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.394002	0.83011	.	.	ENSG00000091157	ENST00000254442;ENST00000444065	T	0.49139	0.79	5.81	5.81	0.92471	.	0.054954	0.64402	D	0.000001	T	0.66742	0.2820	L	0.54323	1.7	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.64774	-0.6328	10	0.52906	T	0.07	.	19.6706	0.95910	0.0:0.0:1.0:0.0	.	983	Q9Y4E6	WDR7_HUMAN	C	983;308	ENSP00000254442:G983C	ENSP00000254442:G983C	G	+	1	0	WDR7	52595109	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.656000	0.83736	2.749000	0.94314	0.460000	0.39030	GGT		0.418	WDR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256062.1		Missense_Mutation	27	107	1	0	7.38237e-10	0.00632	1.01819e-09	27	107				
PHLPP1	23239	broad.mit.edu	37	18	60563197	60563197	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr18:60563197G>C	ENST00000262719.5	+	6	2631	c.2397G>C	c.(2395-2397)agG>agC	p.R799S	PHLPP1_ENST00000400316.4_Missense_Mutation_p.R287S			O60346	PHLP1_HUMAN	PH domain and leucine rich repeat protein phosphatase 1	799					apoptotic process (GO:0006915)|entrainment of circadian clock (GO:0009649)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)	p.R799S(2)|p.R286S(1)		endometrium(2)|kidney(2)|lung(13)	17						AGACCCTTAGGCTACAGGCTT	0.383																																							uc002lis.2		NA																	3	Substitution - Missense(3)		lung(3)		0						c.(859-861)AGG>AGC		PH domain and leucine rich repeat protein							84.0	81.0	82.0					18																	60563197		1857	4100	5957	SO:0001583	missense	23239				apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol|membrane|nucleus	metal ion binding|protein serine/threonine phosphatase activity	g.chr18:60563197G>C	AB011178	CCDS45881.1, CCDS45881.2	18q21.32	2013-01-11	2009-05-26	2009-05-26	ENSG00000081913	ENSG00000081913		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"", ""Pleckstrin homology (PH) domain containing"""	20610	protein-coding gene	gene with protein product		609396	"""pleckstrin homology domain containing, family E (with leucine rich repeats) member 1"", ""PH domain and leucine rich repeat protein phosphatase"""	PLEKHE1, PHLPP		10570941, 15808505	Standard	NM_194449		Approved	KIAA0606, SCOP	uc021ule.1	O60346	OTTHUMG00000150629	ENST00000262719.5:c.2397G>C	18.37:g.60563197G>C	ENSP00000262719:p.Arg799Ser						p.R287S	NM_194449	NP_919431	O60346	PHLP1_HUMAN			7	1039	+			799			LRR 7.		A1A4F5|Q641Q7|Q6P4C4|Q6PJI6|Q86TN6|Q96FK2|Q9NUY1	Missense_Mutation	SNP	ENST00000262719.5	37	c.861G>C	CCDS45881.2	.	.	.	.	.	.	.	.	.	.	G	7.280	0.608874	0.14066	.	.	ENSG00000081913	ENST00000400316;ENST00000262719	T;T	0.21191	2.02;2.02	5.07	2.05	0.26809	.	.	.	.	.	T	0.06554	0.0168	N	0.01515	-0.825	0.31217	N	0.697881	B	0.14438	0.01	B	0.09377	0.004	T	0.34725	-0.9817	9	0.08599	T	0.76	-8.4908	9.4564	0.38758	0.0916:0.382:0.5264:0.0	.	799	O60346	PHLP1_HUMAN	S	287;799	ENSP00000383170:R287S;ENSP00000262719:R799S	ENSP00000262719:R799S	R	+	3	2	PHLPP1	58714177	0.772000	0.28567	0.970000	0.41538	0.997000	0.91878	0.677000	0.25262	0.673000	0.31224	0.655000	0.94253	AGG		0.383	PHLPP1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319249.2	NM_194449		8	32	0	0	0	0.00308	0	8	32				
SERPINB12	89777	broad.mit.edu	37	18	61234152	61234152	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr18:61234152G>T	ENST00000269491.1	+	7	1126	c.1126G>T	c.(1126-1128)Gtg>Ttg	p.V376L	SERPINB12_ENST00000382768.1_Missense_Mutation_p.V396L	NM_080474.1	NP_536722.1	Q96P63	SPB12_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 12	376					hematopoietic progenitor cell differentiation (GO:0002244)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of protein catabolic process (GO:0042177)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	enzyme binding (GO:0019899)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.V376L(1)		kidney(1)|large_intestine(5)|lung(19)|skin(1)	26						ACGATCTTGGGTGGAGTTTAA	0.463																																							uc010xen.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1126-1128)GTG>TTG		serine (or cysteine) proteinase inhibitor, clade							79.0	77.0	77.0					18																	61234152		2203	4300	6503	SO:0001583	missense	89777				negative regulation of protein catabolic process|regulation of proteolysis	cytoplasm	enzyme binding|serine-type endopeptidase inhibitor activity	g.chr18:61234152G>T	AF411191	CCDS11984.1	18q21.33	2014-02-18	2005-08-18		ENSG00000166634	ENSG00000166634		"""Serine (or cysteine) peptidase inhibitors"""	14220	protein-coding gene	gene with protein product		615662	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 12"""			24172014	Standard	NM_080474		Approved	YUKOPIN	uc010xen.2	Q96P63	OTTHUMG00000132789	ENST00000269491.1:c.1126G>T	18.37:g.61234152G>T	ENSP00000269491:p.Val376Leu					SERPINB12_uc010xeo.1_Missense_Mutation_p.V396L	p.V376L	NM_080474	NP_536722	Q96P63	SPB12_HUMAN			7	1126	+			376					Q3SYB4	Missense_Mutation	SNP	ENST00000269491.1	37	c.1126G>T	CCDS11984.1	.	.	.	.	.	.	.	.	.	.	G	5.069	0.198469	0.09652	.	.	ENSG00000166634	ENST00000269491;ENST00000382768	D;D	0.84730	-1.89;-1.89	6.01	3.31	0.37934	Serpin domain (3);	0.750787	0.12177	N	0.492408	T	0.77651	0.4162	L	0.39514	1.22	0.09310	N	1	P;P	0.35684	0.515;0.454	B;B	0.37387	0.248;0.197	T	0.61168	-0.7117	10	0.17832	T	0.49	.	7.5438	0.27755	0.1898:0.0:0.6925:0.1177	.	396;376	Q3SYB4;Q96P63	.;SPB12_HUMAN	L	376;396	ENSP00000269491:V376L;ENSP00000372218:V396L	ENSP00000269491:V376L	V	+	1	0	SERPINB12	59385132	0.000000	0.05858	0.003000	0.11579	0.010000	0.07245	0.179000	0.16840	0.455000	0.26910	-0.150000	0.13652	GTG		0.463	SERPINB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256197.1	NM_080474		22	45	1	0	2.32416e-17	0.002299	3.9261e-17	22	45				
CDH7	1005	broad.mit.edu	37	18	63526277	63526277	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr18:63526277G>A	ENST00000397968.2	+	9	1915	c.1489G>A	c.(1489-1491)Ggg>Agg	p.G497R	CDH7_ENST00000536984.2_Missense_Mutation_p.G497R|CDH7_ENST00000323011.3_Missense_Mutation_p.G497R	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	497	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.G497R(2)|p.G497W(2)		NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				TGCCCAGCCGGGGCAGGTAAG	0.428																																							uc002ljz.2		NA																	4	Substitution - Missense(4)		lung(2)|endometrium(2)	ovary(2)|pancreas(1)|skin(1)	4						c.(1489-1491)GGG>AGG		cadherin 7, type 2 preproprotein							65.0	66.0	66.0					18																	63526277		2203	4300	6503	SO:0001583	missense	1005				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:63526277G>A	AB035301	CCDS11993.1	18q22.1	2010-01-26			ENSG00000081138	ENSG00000081138		"""Cadherins / Major cadherins"""	1766	protein-coding gene	gene with protein product		605806				9615235	Standard	NM_033646		Approved		uc002ljz.3	Q9ULB5	OTTHUMG00000132800	ENST00000397968.2:c.1489G>A	18.37:g.63526277G>A	ENSP00000381058:p.Gly497Arg					CDH7_uc002lka.2_Missense_Mutation_p.G497R|CDH7_uc002lkb.2_Missense_Mutation_p.G497R	p.G497R	NM_033646	NP_387450	Q9ULB5	CADH7_HUMAN			9	1814	+		Esophageal squamous(42;0.129)	497			Extracellular (Potential).|Cadherin 5.		Q9H157	Missense_Mutation	SNP	ENST00000397968.2	37	c.1489G>A	CCDS11993.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.963985	0.92791	.	.	ENSG00000081138	ENST00000323011;ENST00000536984;ENST00000397966;ENST00000397968	T;T;T	0.68624	-0.34;-0.34;-0.34	5.32	5.32	0.75619	Cadherin (3);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.85208	0.5644	M	0.89478	3.035	0.80722	D	1	D;D	0.89917	0.963;1.0	P;D	0.79108	0.749;0.992	D	0.87394	0.2365	10	0.66056	D	0.02	.	19.347	0.94367	0.0:0.0:1.0:0.0	.	497;497	F5H5X9;Q9ULB5	.;CADH7_HUMAN	R	497	ENSP00000319166:G497R;ENSP00000443030:G497R;ENSP00000381058:G497R	ENSP00000319166:G497R	G	+	1	0	CDH7	61677257	1.000000	0.71417	0.698000	0.30274	0.957000	0.61999	9.666000	0.98612	2.648000	0.89879	0.467000	0.42956	GGG		0.428	CDH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256217.2	NM_033646		11	33	0	0	0	0.001368	0	11	33				
CDH19	28513	broad.mit.edu	37	18	64211979	64211979	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr18:64211979C>T	ENST00000540086.1	-	6	1183	c.937G>A	c.(937-939)Gaa>Aaa	p.E313K	CDH19_ENST00000262150.2_Missense_Mutation_p.E313K	NM_001271028.1	NP_001257957.1	Q96JQ0	PCD16_HUMAN	cadherin 19, type 2	421	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.E313K(1)		NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				ACTATTCCTTCTTGAGTTTCA	0.308																																							uc002lkc.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(937-939)GAA>AAA		cadherin 19, type 2 preproprotein							76.0	72.0	73.0					18																	64211979		2203	4300	6503	SO:0001583	missense	28513				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:64211979C>T	AJ007607	CCDS11994.1, CCDS59325.1	18q22.1	2010-01-26			ENSG00000071991	ENSG00000071991		"""Cadherins / Major cadherins"""	1758	protein-coding gene	gene with protein product		603016				10995570	Standard	NM_021153		Approved	CDH7	uc002lkc.2	Q9H159	OTTHUMG00000132802	ENST00000540086.1:c.937G>A	18.37:g.64211979C>T	ENSP00000439593:p.Glu313Lys					CDH19_uc010dql.1_RNA|CDH19_uc010xey.1_Missense_Mutation_p.E313K|CDH19_uc002lkd.2_Missense_Mutation_p.E313K	p.E313K	NM_021153	NP_066976	Q9H159	CAD19_HUMAN			6	1075	-		Esophageal squamous(42;0.0132)	313			Cadherin 3.|Extracellular (Potential).		O15098	Missense_Mutation	SNP	ENST00000540086.1	37	c.937G>A	CCDS59325.1	.	.	.	.	.	.	.	.	.	.	C	16.12	3.032412	0.54790	.	.	ENSG00000071991	ENST00000262150;ENST00000540086;ENST00000454642	T;T	0.20200	2.09;2.09	5.42	5.42	0.78866	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.48750	0.1517	M	0.71871	2.18	0.58432	D	0.999999	D;D	0.89917	1.0;0.996	D;D	0.85130	0.997;0.983	T	0.49351	-0.8949	10	0.87932	D	0	.	18.8197	0.92090	0.0:1.0:0.0:0.0	.	313;313	F5H1K0;Q9H159	.;CAD19_HUMAN	K	313;313;258	ENSP00000262150:E313K;ENSP00000439593:E313K	ENSP00000262150:E313K	E	-	1	0	CDH19	62362959	1.000000	0.71417	1.000000	0.80357	0.830000	0.47004	2.735000	0.47377	2.552000	0.86080	0.491000	0.48974	GAA		0.308	CDH19-005	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000442285.1	NM_021153		6	13	0	0	0	0.001984	0	6	13				
ZNF516	9658	broad.mit.edu	37	18	74154222	74154223	+	Missense_Mutation	DNP	CA	CA	AG			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	CA	CA	-	-	CA	CA	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr18:74154222_74154223CA>AG	ENST00000443185.2	-	3	1105_1106	c.788_789TG>CT	c.(787-789)cTG>cCT	p.L263P	ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	263					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.L263P(1)		central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		TGTGCGCCTTCAGGAACCAGGT	0.653																																							uc010dqx.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(787-789)CTG>CCT		zinc finger protein 516																																				SO:0001583	missense	9658				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:74154222_74154223CA>AG	D86975	CCDS74234.1	18q23	2013-01-08				ENSG00000101493		"""Zinc fingers, C2H2-type"""	28990	protein-coding gene	gene with protein product		615114				9039502	Standard	NM_014643		Approved	HsT287, KIAA0222	uc021ulp.1	Q92618		ENST00000443185.2:c.788_789delinsAG	18.37:g.74154222_74154223delinsAG	ENSP00000394757:p.Leu263Pro					ZNF516_uc002lme.2_RNA	p.L263P	NM_014643	NP_055458	Q92618	ZN516_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)	2	1023_1024	-		Prostate(75;0.0869)|Esophageal squamous(42;0.129)	263			C2H2-type 5.			Missense_Mutation	DNP	ENST00000443185.2	37	c.788_789TG>CT																																																																																					0.653	ZNF516-201	KNOWN	basic|appris_principal|exp_conf	protein_coding	protein_coding		NM_014643		5	21	0	0	0	0.004672	0	5	21				
ZNF236	7776	broad.mit.edu	37	18	74624286	74624286	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr18:74624286G>T	ENST00000253159.8	+	17	3084	c.2886G>T	c.(2884-2886)caG>caT	p.Q962H	ZNF236_ENST00000320610.9_Missense_Mutation_p.Q964H	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	962					cellular response to glucose stimulus (GO:0071333)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.Q962H(2)		NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		ACGAGGACCAGAGCAGGCGCT	0.542																																							uc002lmi.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)	4						c.(2884-2886)CAG>CAT		zinc finger protein 236							59.0	60.0	60.0					18																	74624286		1965	4167	6132	SO:0001583	missense	7776				cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:74624286G>T	AF085243	CCDS42447.1	18q22-q23	2013-01-08				ENSG00000130856		"""Zinc fingers, C2H2-type"""	13028	protein-coding gene	gene with protein product		604760				10458916	Standard	NM_007345		Approved		uc002lmi.3	Q9UL36		ENST00000253159.8:c.2886G>T	18.37:g.74624286G>T	ENSP00000253159:p.Gln962His					ZNF236_uc002lmj.2_RNA	p.Q962H	NM_007345	NP_031371	Q9UL36	ZN236_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)	17	3084	+		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)	962					B2RTX9|Q9UL37	Missense_Mutation	SNP	ENST00000253159.8	37	c.2886G>T	CCDS42447.1	.	.	.	.	.	.	.	.	.	.	G	12.59	1.984857	0.35036	.	.	ENSG00000130856	ENST00000253159;ENST00000543926;ENST00000320610	T;T	0.10860	2.83;2.97	5.63	2.48	0.30137	.	0.253608	0.40385	N	0.001117	T	0.05364	0.0142	N	0.12961	0.28	0.36048	D	0.840589	B	0.02656	0.0	B	0.04013	0.001	T	0.22173	-1.0224	10	0.56958	D	0.05	.	3.1552	0.06502	0.4012:0.2853:0.3135:0.0	.	962	Q9UL36	ZN236_HUMAN	H	962	ENSP00000253159:Q962H;ENSP00000444524:Q962H	ENSP00000253159:Q962H	Q	+	3	2	ZNF236	72753274	1.000000	0.71417	1.000000	0.80357	0.821000	0.46438	2.621000	0.46418	0.735000	0.32537	-0.150000	0.13652	CAG		0.542	ZNF236-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000445776.1			4	15	1	0	0.00024832	0.009096	0.000275552	4	15				
TMIGD2	126259	broad.mit.edu	37	19	4292732	4292732	+	Nonsense_Mutation	SNP	G	G	T	rs144046862		TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr19:4292732G>T	ENST00000301272.2	-	5	758	c.713C>A	c.(712-714)tCa>tAa	p.S238*	TMIGD2_ENST00000595645.1_Nonsense_Mutation_p.S234*|TMIGD2_ENST00000600349.1_Nonsense_Mutation_p.S66*|TMIGD2_ENST00000600114.1_Nonsense_Mutation_p.S118*	NM_001169126.1|NM_144615.2	NP_001162597.1|NP_653216.2	Q96BF3	TMIG2_HUMAN	transmembrane and immunoglobulin domain containing 2	238	Pro-rich.				positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of cytokine production (GO:0001819)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)	p.S238*(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(2)	19				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)		gcagggTCTTGACGCCAGGTG	0.677																																							uc002lzx.1		NA																	1	Substitution - Nonsense(1)		lung(1)		0						c.(712-714)TCA>TAA		transmembrane and immunoglobulin domain							26.0	34.0	31.0					19																	4292732		2196	4294	6490	SO:0001587	stop_gained	126259					integral to membrane		g.chr19:4292732G>T	BC015655	CCDS12126.1, CCDS59334.1	19p13.3	2014-02-12	2006-07-05					"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	28324	protein-coding gene	gene with protein product		614715					Standard	NM_144615		Approved	MGC23244	uc002lzx.2	Q96BF3		ENST00000301272.2:c.713C>A	19.37:g.4292732G>T	ENSP00000301272:p.Ser238*					TMIGD2_uc010dtv.1_Nonsense_Mutation_p.S234*	p.S238*	NM_144615	NP_653216	Q96BF3	TMIG2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)	5	759	-			238			Pro-rich.|Cytoplasmic (Potential).		Q6UW59	Nonsense_Mutation	SNP	ENST00000301272.2	37	c.713C>A	CCDS12126.1	.	.	.	.	.	.	.	.	.	.	G	10.48	1.362469	0.24684	.	.	ENSG00000167664	ENST00000301272	.	.	.	0.743	0.743	0.18347	.	.	.	.	.	.	.	.	.	.	.	0.34867	D	0.74322	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.7007	0.12825	0.0:0.0:1.0:0.0	.	.	.	.	X	238	.	ENSP00000301272:S238X	S	-	2	0	TMIGD2	4243732	0.017000	0.18338	0.010000	0.14722	0.008000	0.06430	0.645000	0.24782	0.088000	0.17205	0.089000	0.15464	TCA		0.677	TMIGD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458088.1	NM_144615		23	21	1	0	1.96895e-08	0.00278	2.55364e-08	23	21				
RANBP3	8498	broad.mit.edu	37	19	5933469	5933469	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr19:5933469C>T	ENST00000340578.6	-	6	485	c.428G>A	c.(427-429)cGg>cAg	p.R143Q	RANBP3_ENST00000541471.1_Missense_Mutation_p.R15Q|RANBP3_ENST00000591092.1_Missense_Mutation_p.R75Q|RANBP3_ENST00000034275.8_Missense_Mutation_p.R75Q|RANBP3_ENST00000439268.2_Missense_Mutation_p.R143Q|RANBP3_ENST00000591124.1_5'UTR	NM_003624.2|NM_007320.2|NM_007322.2	NP_003615.2|NP_015559.2|NP_015561.1	Q9H6Z4	RANB3_HUMAN	RAN binding protein 3	143					intracellular transport (GO:0046907)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	R-SMAD binding (GO:0070412)|Ran GTPase binding (GO:0008536)	p.R143Q(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	18						TGGCTTCAACCGGAAGCCACT	0.622																																							uc002mdw.2		NA																	1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(427-429)CGG>CAG		RAN binding protein 3 isoform RANBP3-d							35.0	39.0	38.0					19																	5933469		2003	4177	6180	SO:0001583	missense	8498				intracellular transport|protein transport	cytoplasm|nucleus	Ran GTPase binding	g.chr19:5933469C>T	Y08698	CCDS42477.1, CCDS42478.1, CCDS45935.1, CCDS74268.1	19p13.3	2008-02-05							9850	protein-coding gene	gene with protein product		603327				9637251	Standard	NM_007322		Approved		uc002mdw.3	Q9H6Z4		ENST00000340578.6:c.428G>A	19.37:g.5933469C>T	ENSP00000341483:p.Arg143Gln					RANBP3_uc002mdv.2_5'UTR|RANBP3_uc002mdx.2_Missense_Mutation_p.R143Q|RANBP3_uc002mdy.2_Missense_Mutation_p.R75Q|RANBP3_uc002mdz.2_Missense_Mutation_p.R75Q|RANBP3_uc010duq.2_Missense_Mutation_p.R53Q|RANBP3_uc002mea.2_Missense_Mutation_p.R15Q|RANBP3_uc010xix.1_Missense_Mutation_p.R15Q	p.R143Q	NM_007322	NP_015561	Q9H6Z4	RANB3_HUMAN			6	655	-			143					B2RAT8|O60405|O75759|O75760|Q9BT47|Q9UG74	Missense_Mutation	SNP	ENST00000340578.6	37	c.428G>A	CCDS42478.1	.	.	.	.	.	.	.	.	.	.	C	35	5.466621	0.96257	.	.	ENSG00000031823	ENST00000340578;ENST00000439268;ENST00000034275;ENST00000324807;ENST00000541471	T;T;T;T	0.58940	1.07;1.03;2.0;0.3	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.64832	0.2634	L	0.34521	1.04	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.87578	0.997;0.996;0.996;0.996;0.998;0.998;0.996	T	0.56432	-0.7980	10	0.13470	T	0.59	-28.1988	16.9253	0.86174	0.0:1.0:0.0:0.0	.	15;143;15;75;75;143;143	F5H4C2;Q53GE1;B7Z5P4;B7Z7F3;Q9H6Z4-3;Q9H6Z4-2;Q9H6Z4	.;.;.;.;.;.;RANB3_HUMAN	Q	143;143;75;74;15	ENSP00000341483:R143Q;ENSP00000404837:R143Q;ENSP00000034275:R75Q;ENSP00000445071:R15Q	ENSP00000034275:R75Q	R	-	2	0	RANBP3	5884469	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.221000	0.72243	2.663000	0.90544	0.655000	0.94253	CGG		0.622	RANBP3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452304.1	NM_007322		4	41	0	0	0	0.000602	0	4	41				
ACTL9	284382	broad.mit.edu	37	19	8808271	8808271	+	Missense_Mutation	SNP	C	C	A	rs142929347	byFrequency	TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr19:8808271C>A	ENST00000324436.3	-	1	901	c.781G>T	c.(781-783)Gtg>Ttg	p.V261L		NM_178525.3	NP_848620.3	Q8TC94	ACTL9_HUMAN	actin-like 9	261						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.V261L(1)		NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						TCGGAGGCCACGTAGCAATAG	0.647																																							uc002mkl.2		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(2)|pancreas(1)	3						c.(781-783)GTG>TTG		actin-like 9							43.0	40.0	41.0					19																	8808271		2203	4300	6503	SO:0001583	missense	284382					cytoplasm|cytoskeleton		g.chr19:8808271C>A		CCDS12207.1	19p13.2	2014-08-08			ENSG00000181786	ENSG00000181786			28494	protein-coding gene	gene with protein product							Standard	NM_178525		Approved	MGC33407	uc002mkl.2	Q8TC94	OTTHUMG00000182194	ENST00000324436.3:c.781G>T	19.37:g.8808271C>A	ENSP00000316674:p.Val261Leu						p.V261L	NM_178525	NP_848620	Q8TC94	ACTL9_HUMAN			1	902	-			261					A8K893|Q6X960	Missense_Mutation	SNP	ENST00000324436.3	37	c.781G>T	CCDS12207.1	.	.	.	.	.	.	.	.	.	.	c	10.43	1.347229	0.24426	.	.	ENSG00000181786	ENST00000324436	D	0.97114	-4.25	4.63	2.45	0.29901	.	0.202150	0.24798	U	0.035516	D	0.94503	0.8230	L	0.53617	1.68	0.33505	D	0.590422	B	0.29627	0.252	B	0.34138	0.176	D	0.93662	0.6982	10	0.87932	D	0	.	5.6497	0.17610	0.1659:0.6586:0.0:0.1755	.	261	Q8TC94	ACTL9_HUMAN	L	261	ENSP00000316674:V261L	ENSP00000316674:V261L	V	-	1	0	ACTL9	8669271	0.996000	0.38824	0.992000	0.48379	0.120000	0.20174	2.245000	0.43133	0.646000	0.30693	0.306000	0.20318	GTG		0.647	ACTL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459953.1	NM_178525		16	28	1	0	4.7546e-09	0.004007	6.3519e-09	16	28				
MUC16	94025	broad.mit.edu	37	19	9060278	9060278	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr19:9060278G>T	ENST00000397910.4	-	3	27371	c.27168C>A	c.(27166-27168)gaC>gaA	p.D9056E		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9058	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.D9056E(1)|p.D4689E(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CAGTGGATATGTCTTGTGACA	0.493																																							uc002mkp.2		NA																	2	Substitution - Missense(2)		lung(2)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(27166-27168)GAC>GAA		mucin 16							166.0	155.0	158.0					19																	9060278		2000	4185	6185	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9060278G>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.27168C>A	19.37:g.9060278G>T	ENSP00000381008:p.Asp9056Glu						p.D9056E	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	27372	-			9058			Ser-rich.|Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.27168C>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	6.555	0.470763	0.12461	.	.	ENSG00000181143	ENST00000397910	T	0.02763	4.17	2.15	-1.42	0.08913	.	.	.	.	.	T	0.02888	0.0086	L	0.34521	1.04	.	.	.	P	0.34587	0.458	B	0.40375	0.327	T	0.41858	-0.9485	8	0.87932	D	0	.	2.653	0.05004	0.3637:0.2612:0.375:0.0	.	9056	B5ME49	.	E	9056	ENSP00000381008:D9056E	ENSP00000381008:D9056E	D	-	3	2	MUC16	8921278	0.000000	0.05858	0.000000	0.03702	0.131000	0.20780	-1.735000	0.01847	-0.273000	0.09246	0.306000	0.20318	GAC		0.493	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		28	38	1	0	1.39806e-14	0.008361	2.23601e-14	28	38				
MUC16	94025	broad.mit.edu	37	19	9072943	9072943	+	Missense_Mutation	SNP	C	C	A	rs549713363		TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr19:9072943C>A	ENST00000397910.4	-	3	14706	c.14503G>T	c.(14503-14505)Gtg>Ttg	p.V4835L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4837	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.V4835L(2)|p.V468L(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTGGTCCCCACATTGGTAACT	0.453																																							uc002mkp.2		NA																	3	Substitution - Missense(3)		lung(3)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(14503-14505)GTG>TTG		mucin 16							166.0	156.0	159.0					19																	9072943		2077	4202	6279	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9072943C>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.14503G>T	19.37:g.9072943C>A	ENSP00000381008:p.Val4835Leu						p.V4835L	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	14707	-			4837			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.14503G>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	4.633	0.117681	0.08881	.	.	ENSG00000181143	ENST00000397910	T	0.35789	1.29	2.21	-4.43	0.03568	.	.	.	.	.	T	0.23688	0.0573	L	0.38175	1.15	.	.	.	B	0.27594	0.182	B	0.30029	0.11	T	0.31166	-0.9953	8	0.87932	D	0	.	4.0407	0.09750	0.0:0.2512:0.3563:0.3925	.	4835	B5ME49	.	L	4835	ENSP00000381008:V4835L	ENSP00000381008:V4835L	V	-	1	0	MUC16	8933943	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.678000	0.05209	-1.163000	0.02793	-0.389000	0.06534	GTG		0.453	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		29	35	1	0	4.22769e-11	0.00632	6.11132e-11	29	35				
COL5A3	50509	broad.mit.edu	37	19	10091370	10091370	+	Splice_Site	SNP	T	T	C			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr19:10091370T>C	ENST00000264828.3	-	35	2645		c.e35-2			NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3						axon guidance (GO:0007411)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)	p.?(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			CACATCGCCCTAGGACAGAGT	0.562																																							uc002mmq.1		NA																	1	Unknown(1)		lung(1)	ovary(7)|lung(1)|central_nervous_system(1)|skin(1)	10						c.e35-1		collagen, type V, alpha 3 preproprotein							60.0	58.0	59.0					19																	10091370		2203	4300	6503	SO:0001630	splice_region_variant	50509				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent	g.chr19:10091370T>C	AF177941	CCDS12222.1	19p13.2	2013-01-16			ENSG00000080573	ENSG00000080573		"""Collagens"""	14864	protein-coding gene	gene with protein product		120216				10722718	Standard	NM_015719		Approved		uc002mmq.1	P25940	OTTHUMG00000150019	ENST00000264828.3:c.2560-2A>G	19.37:g.10091370T>C							p.G854_splice	NM_015719	NP_056534	P25940	CO5A3_HUMAN	Epithelial(33;7.11e-05)		35	2646	-								Q9NZQ6	Splice_Site	SNP	ENST00000264828.3	37	c.2560_splice	CCDS12222.1	.	.	.	.	.	.	.	.	.	.	T	12.47	1.947648	0.34377	.	.	ENSG00000080573	ENST00000264828	.	.	.	4.55	4.55	0.56014	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.304	0.43670	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	COL5A3	9952370	1.000000	0.71417	1.000000	0.80357	0.288000	0.27193	6.217000	0.72218	1.688000	0.51068	0.164000	0.16699	.		0.562	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315788.1	NM_015719	Intron	5	15	0	0	0	0.00308	0	5	15				
KEAP1	9817	broad.mit.edu	37	19	10610293	10610293	+	Missense_Mutation	SNP	G	G	T	rs374193818		TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr19:10610293G>T	ENST00000171111.5	-	2	964	c.417C>A	c.(415-417)ttC>ttA	p.F139L	KEAP1_ENST00000588024.1_5'Flank|KEAP1_ENST00000393623.2_Missense_Mutation_p.F139L	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	139	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				cellular response to interleukin-4 (GO:0071353)|in utero embryonic development (GO:0001701)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein ubiquitination (GO:0016567)|regulation of epidermal cell differentiation (GO:0045604)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|nucleus (GO:0005634)		p.F139L(1)		breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)		Dimethyl fumarate(DB08908)	CCGTGTAGGCGAATTCAATGA	0.582																																							uc002moq.1		NA																	1	Substitution - Missense(1)		lung(1)	lung(12)|breast(3)|ovary(1)|pancreas(1)	17						c.(415-417)TTC>TTA		kelch-like ECH-associated protein 1							144.0	117.0	126.0					19																	10610293		2203	4300	6503	SO:0001583	missense	9817				regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding	g.chr19:10610293G>T	AF361886	CCDS12239.1	19p13.2	2013-01-30				ENSG00000079999		"""Kelch-like"", ""BTB/POZ domain containing"""	23177	protein-coding gene	gene with protein product	"""kelch-like family member 19"""	606016					Standard	NM_012289		Approved	KIAA0132, MGC10630, MGC1114, MGC20887, MGC4407, MGC9454, INrf2, KLHL19	uc002mor.1	Q14145		ENST00000171111.5:c.417C>A	19.37:g.10610293G>T	ENSP00000171111:p.Phe139Leu					KEAP1_uc002mor.1_Missense_Mutation_p.F139L	p.F139L	NM_012289	NP_036421	Q14145	KEAP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)		2	573	-			139			BTB.		B3KPD5|Q6LEP0|Q8WTX1|Q9BPY9	Missense_Mutation	SNP	ENST00000171111.5	37	c.417C>A	CCDS12239.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.146874	0.77888	.	.	ENSG00000079999	ENST00000171111;ENST00000393623	T;T	0.72167	-0.63;-0.63	4.81	-4.65	0.03339	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	D	0.82733	0.5101	M	0.90145	3.09	0.51482	D	0.999922	D	0.89917	1.0	D	0.91635	0.999	D	0.83547	0.0099	10	0.87932	D	0	.	11.8924	0.52637	0.7915:0.0:0.2085:0.0	.	139	Q14145	KEAP1_HUMAN	L	139	ENSP00000171111:F139L;ENSP00000377245:F139L	ENSP00000171111:F139L	F	-	3	2	KEAP1	10471293	0.001000	0.12720	0.973000	0.42090	0.938000	0.57974	-1.276000	0.02815	-0.708000	0.05015	0.561000	0.74099	TTC		0.582	KEAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452000.1	NM_012289		10	16	1	0	7.48243e-07	0.006214	9.20222e-07	10	16				
SMARCA4	6597	broad.mit.edu	37	19	11138491	11138491	+	Nonsense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr19:11138491G>T	ENST00000429416.3	+	25	3528	c.3247G>T	c.(3247-3249)Gag>Tag	p.E1083*	SMARCA4_ENST00000589677.1_Nonsense_Mutation_p.E1083*|SMARCA4_ENST00000444061.3_Nonsense_Mutation_p.E1083*|SMARCA4_ENST00000450717.3_Nonsense_Mutation_p.E1083*|SMARCA4_ENST00000344626.4_Nonsense_Mutation_p.E1083*|SMARCA4_ENST00000590574.1_Nonsense_Mutation_p.E1083*|SMARCA4_ENST00000541122.2_Nonsense_Mutation_p.E1083*|SMARCA4_ENST00000413806.3_Nonsense_Mutation_p.E1083*|SMARCA4_ENST00000358026.2_Nonsense_Mutation_p.E1083*	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1083					aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.?(2)|p.E1083*(2)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				GGGTAAATTTGAGCTTCTTGA	0.517			"""F, N, Mis"""		NSCLC																																		uc002mqf.3		NA		Rec	yes		19	19p13.2	6597	F|N|Mis	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"""			E			NSCLC		4	Substitution - Nonsense(2)|Unknown(2)	p.?(2)	lung(4)	lung(29)|ovary(8)|pancreas(7)|large_intestine(5)|central_nervous_system(5)|skin(3)|prostate(3)|breast(2)|adrenal_gland(1)|stomach(1)|liver(1)|autonomic_ganglia(1)|kidney(1)	67						c.(3247-3249)GAG>TAG		SWI/SNF-related matrix-associated							104.0	106.0	105.0					19																	11138491		2203	4300	6503	SO:0001587	stop_gained	6597	Rhabdoid_Predisposition_syndrome			chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	g.chr19:11138491G>T	D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"""SNF2-like 4"", ""global transcription activator homologous sequence"", ""sucrose nonfermenting-like 4"", ""mitotic growth and transcription activator"", ""BRM/SWI2-related gene 1"", ""homeotic gene regulator"", ""nuclear protein GRB1"", ""brahma protein-like 1"", ""ATP-dependent helicase SMARCA4"""	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.3247G>T	19.37:g.11138491G>T	ENSP00000395654:p.Glu1083*					SMARCA4_uc010dxp.2_Nonsense_Mutation_p.E1083*|SMARCA4_uc010dxo.2_Nonsense_Mutation_p.E1083*|SMARCA4_uc002mqg.1_Nonsense_Mutation_p.E1083*|SMARCA4_uc010dxq.2_Nonsense_Mutation_p.E1083*|SMARCA4_uc010dxr.2_Nonsense_Mutation_p.E1083*|SMARCA4_uc002mqj.3_Nonsense_Mutation_p.E1083*|SMARCA4_uc010dxs.2_Nonsense_Mutation_p.E1083*|SMARCA4_uc010dxt.1_Nonsense_Mutation_p.E303*|SMARCA4_uc002mqh.3_Nonsense_Mutation_p.E206*|SMARCA4_uc002mqi.1_Nonsense_Mutation_p.E286*	p.E1083*	NM_003072	NP_003063	P51532	SMCA4_HUMAN			24	3531	+		all_lung(6;0.0512)|Lung NSC(9;0.0568)	1083					B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Nonsense_Mutation	SNP	ENST00000429416.3	37	c.3247G>T	CCDS12253.1	.	.	.	.	.	.	.	.	.	.	G	42	9.406903	0.99161	.	.	ENSG00000127616	ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806	.	.	.	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-45.5533	17.3259	0.87246	0.0:0.0:1.0:0.0	.	.	.	.	X	1083;1083;1147;1083;1083;1083;1083;1083	.	ENSP00000343896:E1083X	E	+	1	0	SMARCA4	10999491	1.000000	0.71417	0.982000	0.44146	0.976000	0.68499	9.293000	0.96082	2.617000	0.88574	0.655000	0.94253	GAG		0.517	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2	NM_003072		37	35	1	0	1.69901e-12	0.005524	2.56483e-12	37	35				
MYO9B	4650	broad.mit.edu	37	19	17283219	17283219	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr19:17283219G>C	ENST00000594824.1	+	12	2014	c.1867G>C	c.(1867-1869)Ggc>Cgc	p.G623R	MYO9B_ENST00000595618.1_Missense_Mutation_p.G623R|MYO9B_ENST00000397274.2_Missense_Mutation_p.G623R			Q13459	MYO9B_HUMAN	myosin IXB	623	Myosin motor.				actin filament-based movement (GO:0030048)|establishment of cell polarity (GO:0030010)|lamellipodium morphogenesis (GO:0072673)|macrophage chemotaxis (GO:0048246)|monocyte chemotaxis (GO:0002548)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|membrane (GO:0016020)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)	p.G623R(2)		breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						GTACTTCCTGGGCACCCCGGT	0.542																																							uc010eak.2		NA																	2	Substitution - Missense(2)		lung(2)	breast(1)	1						c.(1867-1869)GGC>CGC		myosin IXB isoform 1							75.0	78.0	77.0					19																	17283219		2063	4192	6255	SO:0001583	missense	4650				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity	g.chr19:17283219G>C		CCDS46010.1	19p13.1	2011-09-27				ENSG00000099331		"""Myosins / Myosin superfamily : Class IX"""	7609	protein-coding gene	gene with protein product		602129		CELIAC4		9226381	Standard	NM_004145		Approved		uc010eak.3	Q13459		ENST00000594824.1:c.1867G>C	19.37:g.17283219G>C	ENSP00000471367:p.Gly623Arg					MYO9B_uc002nfi.2_Missense_Mutation_p.G623R|MYO9B_uc002nfj.1_Missense_Mutation_p.G623R	p.G623R	NM_004145	NP_004136	Q13459	MYO9B_HUMAN			12	2019	+			623			Myosin head-like.		O75314|Q9NUJ2|Q9UHN0	Missense_Mutation	SNP	ENST00000594824.1	37	c.1867G>C		.	.	.	.	.	.	.	.	.	.	G	11.09	1.535871	0.27475	.	.	ENSG00000099331	ENST00000397274	D	0.86956	-2.19	4.7	4.7	0.59300	Myosin head, motor domain (2);	0.124076	0.36101	N	0.002790	T	0.80303	0.4598	N	0.03268	-0.37	0.31891	N	0.617235	B;B;D	0.57257	0.059;0.059;0.979	B;B;P	0.57468	0.102;0.102;0.821	T	0.75728	-0.3216	10	0.07030	T	0.85	.	16.2258	0.82288	0.0:0.0:1.0:0.0	.	623;623;629	Q13459;B0I1T6;Q4LE74	MYO9B_HUMAN;.;.	R	623	ENSP00000380444:G623R	ENSP00000380444:G623R	G	+	1	0	MYO9B	17144219	0.998000	0.40836	1.000000	0.80357	0.938000	0.57974	2.434000	0.44802	2.178000	0.69098	0.643000	0.83706	GGC		0.542	MYO9B-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000463236.1			9	11	0	0	0	0.006214	0	9	11				
UNC13A	23025	broad.mit.edu	37	19	17758111	17758111	+	Silent	SNP	G	G	A	rs375704483		TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr19:17758111G>A	ENST00000519716.2	-	17	2006	c.2007C>T	c.(2005-2007)gaC>gaT	p.D669D	UNC13A_ENST00000428389.2_Silent_p.D757D|UNC13A_ENST00000552293.1_Silent_p.D669D|UNC13A_ENST00000551649.1_Silent_p.D669D|UNC13A_ENST00000550896.1_Silent_p.D667D|UNC13A_ENST00000252773.7_Silent_p.D669D	NM_001080421.2	NP_001073890.2	Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	669	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				beta-amyloid metabolic process (GO:0050435)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|positive regulation of neurotransmitter secretion (GO:0001956)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle maturation (GO:0016188)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)|syntaxin-1 binding (GO:0017075)	p.D757D(1)|p.D669D(1)		breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						TGGACGTGCCGTCCAGCACGC	0.632																																							uc002nhd.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(3)	3						c.(2269-2271)GAC>GAT		unc-13 homolog A		G		0,4224		0,0,2112	50.0	53.0	52.0		2007	-2.6	1.0	19		52	1,8471		0,1,4235	no	coding-synonymous	UNC13A	NM_001080421.2		0,1,6347	AA,AG,GG		0.0118,0.0,0.0079		669/1704	17758111	1,12695	2112	4236	6348	SO:0001819	synonymous_variant	23025				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr19:17758111G>A	AB028955	CCDS46013.1, CCDS46013.2	19p13.12	2008-02-05				ENSG00000130477			23150	protein-coding gene	gene with protein product		609894					Standard	NM_001080421		Approved	KIAA1032, Munc13-1	uc031rjv.1	Q9UPW8		ENST00000519716.2:c.2007C>T	19.37:g.17758111G>A							p.D757D	NM_001080421	NP_001073890	Q9UPW8	UN13A_HUMAN			17	2271	-			669			C2 2.		E5RHY9	Silent	SNP	ENST00000519716.2	37	c.2271C>T	CCDS46013.2																																																																																				0.632	UNC13A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376169.2	XM_038604		3	5	0	0	0	0.004672	0	3	5				
NCAN	1463	broad.mit.edu	37	19	19339042	19339042	+	Silent	SNP	G	G	T	rs375566714		TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr19:19339042G>T	ENST00000252575.6	+	8	2712	c.2613G>T	c.(2611-2613)acG>acT	p.T871T	NCAN_ENST00000538881.1_Silent_p.T322T	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	871					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|regulation of synapse structural plasticity (GO:0051823)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)	p.T871T(1)|p.T885T(1)		breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)		Hyaluronan(DB08818)	GCATTGTGACGCCCCTCACGA	0.582																																							uc002nlz.2		NA																	2	Substitution - coding silent(2)	p.T871M(1)	lung(2)	ovary(4)	4						c.(2611-2613)ACG>ACT		chondroitin sulfate proteoglycan 3 precursor							85.0	89.0	87.0					19																	19339042		2203	4300	6503	SO:0001819	synonymous_variant	1463				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr19:19339042G>T	AF026547	CCDS12397.1	19p12	2014-01-30	2007-02-15	2007-02-15	ENSG00000130287	ENSG00000130287		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"", ""Endogenous ligands"""	2465	protein-coding gene	gene with protein product	"""neurocan proteoglycan"""	600826	"""chondroitin sulfate proteoglycan 3"""	CSPG3		1326557, 21353194	Standard	NM_004386		Approved		uc002nlz.3	O14594		ENST00000252575.6:c.2613G>T	19.37:g.19339042G>T						NCAN_uc010ecc.1_Silent_p.T435T	p.T871T	NM_004386	NP_004377	O14594	NCAN_HUMAN	Epithelial(12;0.00544)		8	2712	+			871					Q9UPK6	Silent	SNP	ENST00000252575.6	37	c.2613G>T	CCDS12397.1																																																																																				0.582	NCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460111.2	NM_004386		24	29	1	0	7.87624e-14	0.00278	1.2403e-13	24	29				
ZNF708	7562	broad.mit.edu	37	19	21476272	21476272	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr19:21476272G>T	ENST00000356929.3	-	4	1693	c.1496C>A	c.(1495-1497)aCt>aAt	p.T499N		NM_021269.2	NP_067092.2	P17019	ZN708_HUMAN	zinc finger protein 708	435					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.T499N(1)		breast(1)|central_nervous_system(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(2)|stomach(1)	32						TTTCTCTCCAGTATGAATTAT	0.353																																							uc002npq.1		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(4)|skin(2)	6						c.(1495-1497)ACT>AAT		zinc finger protein 708							43.0	48.0	46.0					19																	21476272		2195	4291	6486	SO:0001583	missense	7562				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21476272G>T	X52339	CCDS32980.1	19p12	2014-02-14	2006-08-22	2005-08-16	ENSG00000182141	ENSG00000182141		"""Zinc fingers, C2H2-type"", ""-"""	12945	protein-coding gene	gene with protein product			"""zinc finger protein 15-like 1 (KOX 8)"", ""zinc finger protein 708"", ""zinc finger protein 708 (KOX8)"""	ZNF15, ZNF15L1		2014798	Standard	NM_021269		Approved	KOX8	uc002npq.1	P17019	OTTHUMG00000182841	ENST00000356929.3:c.1496C>A	19.37:g.21476272G>T	ENSP00000349401:p.Thr499Asn					ZNF708_uc002npr.1_Missense_Mutation_p.T435N|ZNF708_uc010ecs.1_Missense_Mutation_p.T435N	p.T499N	NM_021269	NP_067092	P17019	ZN708_HUMAN			4	1694	-			499					Q6ZMR0	Missense_Mutation	SNP	ENST00000356929.3	37	c.1496C>A	CCDS32980.1	.	.	.	.	.	.	.	.	.	.	.	5.396	0.258197	0.10239	.	.	ENSG00000182141	ENST00000356929	T	0.26067	1.76	1.05	-2.04	0.07343	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.31451	0.0797	L	0.31294	0.92	0.27558	N	0.950273	D	0.63046	0.992	D	0.70716	0.97	T	0.25847	-1.0120	9	0.72032	D	0.01	.	6.8256	0.23880	0.0:0.0:0.7233:0.2767	.	499	P17019	ZN708_HUMAN	N	499	ENSP00000349401:T499N	ENSP00000349401:T499N	T	-	2	0	ZNF708	21268112	0.958000	0.32768	0.232000	0.24009	0.197000	0.23852	1.753000	0.38359	-0.504000	0.06577	-0.515000	0.04445	ACT		0.353	ZNF708-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463953.1	NM_021269		10	17	1	0	0.00829132	0.008291	0.00875385	10	17				
ZNF208	7757	broad.mit.edu	37	19	22156742	22156742	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr19:22156742C>A	ENST00000397126.4	-	4	1242	c.1094G>T	c.(1093-1095)gGa>gTa	p.G365V	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	365					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.G365V(3)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				GGGTTTCTCTCCAGTATGAAT	0.388																																							uc002nqp.2		NA																	3	Substitution - Missense(3)		lung(3)	ovary(5)|skin(2)	7						c.(1093-1095)GGA>GTA		zinc finger protein 208							35.0	38.0	37.0					19																	22156742		2041	4210	6251	SO:0001583	missense	7757							g.chr19:22156742C>A	BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"""Zinc fingers, C2H2-type"", ""-"""	12999	protein-coding gene	gene with protein product	"""zinc finger protein 95"""	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.1094G>T	19.37:g.22156742C>A	ENSP00000380315:p.Gly365Val					ZNF208_uc002nqo.1_Intron|ZNF208_uc010ecw.1_5'Flank	p.G365V	NM_007153	NP_009084					4	1243	-		all_lung(12;0.0961)|Lung NSC(12;0.103)							Missense_Mutation	SNP	ENST00000397126.4	37	c.1094G>T	CCDS54240.1	.	.	.	.	.	.	.	.	.	.	C	7.982	0.751410	0.15778	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	T	0.23552	1.9	2.65	0.31	0.15825	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.43500	0.1250	.	.	.	0.38740	D	0.953876	D	0.67145	0.996	D	0.67103	0.949	T	0.36065	-0.9763	8	0.62326	D	0.03	.	7.83	0.29336	0.0:0.7997:0.0:0.2003	.	365	O43345	ZN208_HUMAN	V	365	ENSP00000380315:G365V	ENSP00000380315:G365V	G	-	2	0	ZNF208	21948582	0.010000	0.17322	0.001000	0.08648	0.022000	0.10575	2.204000	0.42761	-0.279000	0.09167	0.306000	0.20318	GGA		0.388	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153		15	17	1	0	1.67942e-08	0.006122	2.18924e-08	15	17				
ZNF676	163223	broad.mit.edu	37	19	22363512	22363512	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr19:22363512G>T	ENST00000397121.2	-	3	1324	c.1007C>A	c.(1006-1008)cCc>cAc	p.P336H		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	336					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.P336H(1)		NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				ACATTTGTAGGGTTTCTCTCC	0.413																																							uc002nqs.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1006-1008)CCC>CAC		zinc finger protein 676							70.0	76.0	74.0					19																	22363512		2171	4281	6452	SO:0001583	missense	163223				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22363512G>T	AK097798	CCDS42539.1	19p12	2013-01-08				ENSG00000196109		"""Zinc fingers, C2H2-type"""	20429	protein-coding gene	gene with protein product							Standard	NM_001001411		Approved		uc002nqs.1	Q8N7Q3		ENST00000397121.2:c.1007C>A	19.37:g.22363512G>T	ENSP00000380310:p.Pro336His						p.P336H	NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN			3	1325	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)	336					A8MVX5	Missense_Mutation	SNP	ENST00000397121.2	37	c.1007C>A	CCDS42539.1	.	.	.	.	.	.	.	.	.	.	.	7.409	0.634427	0.14322	.	.	ENSG00000196109	ENST00000397121	T	0.17528	2.27	0.85	-1.7	0.08159	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.35128	0.0921	M	0.83483	2.645	0.19300	N	0.999979	D	0.89917	1.0	D	0.72075	0.976	T	0.18840	-1.0324	9	0.72032	D	0.01	.	2.6982	0.05141	0.2386:0.0:0.4954:0.266	.	336	Q8N7Q3	ZN676_HUMAN	H	336	ENSP00000380310:P336H	ENSP00000380310:P336H	P	-	2	0	ZNF676	22155352	0.272000	0.24172	0.026000	0.17262	0.026000	0.11368	1.125000	0.31332	0.192000	0.20272	0.195000	0.17529	CCC		0.413	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464392.1	NM_001001411		18	42	1	0	2.94398e-08	0.007413	3.80373e-08	18	42				
ZNF98	148198	broad.mit.edu	37	19	22586234	22586234	+	Missense_Mutation	SNP	T	T	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr19:22586234T>A	ENST00000357774.5	-	2	232	c.111A>T	c.(109-111)ttA>ttT	p.L37F	ZNF98_ENST00000601553.1_Missense_Mutation_p.L37F	NM_001098626.1	NP_001092096.1	A6NK75	ZNF98_HUMAN	zinc finger protein 98	37	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.L37F(2)		central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)				CATTCCTATATAAATTCTGCT	0.388																																							uc002nqt.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(109-111)TTA>TTT		zinc finger protein 98							66.0	71.0	69.0					19																	22586234		2193	4288	6481	SO:0001583	missense	148198				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22586234T>A		CCDS46031.1	19p12	2014-02-14	2010-04-20	2008-06-12	ENSG00000197360	ENSG00000197360		"""Zinc fingers, C2H2-type"", ""-"""	13174	protein-coding gene	gene with protein product	"""zinc finger protein 739"""	603980					Standard	NM_001098626		Approved	ZNF739, F7175	uc002nqt.2	A6NK75	OTTHUMG00000182940	ENST00000357774.5:c.111A>T	19.37:g.22586234T>A	ENSP00000350418:p.Leu37Phe						p.L37F	NM_001098626	NP_001092096	A6NK75	ZNF98_HUMAN			2	233	-		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)	37			KRAB.			Missense_Mutation	SNP	ENST00000357774.5	37	c.111A>T	CCDS46031.1	.	.	.	.	.	.	.	.	.	.	.	12.55	1.970949	0.34754	.	.	ENSG00000197360	ENST00000357774	T	0.04406	3.63	1.06	-1.06	0.10002	Krueppel-associated box (4);	.	.	.	.	T	0.23133	0.0559	H	0.94423	3.535	0.09310	N	1	D	0.89917	1.0	D	0.87578	0.998	T	0.05920	-1.0856	9	0.87932	D	0	.	3.6423	0.08172	0.0:0.6077:0.0:0.3923	.	37	A6NK75	ZNF98_HUMAN	F	37	ENSP00000350418:L37F	ENSP00000350418:L37F	L	-	3	2	ZNF98	22378074	0.015000	0.18098	0.001000	0.08648	0.201000	0.24016	-0.756000	0.04777	-0.347000	0.08299	0.248000	0.18094	TTA		0.388	ZNF98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464398.1	NM_001098626		8	70	0	0	0	0.00308	0	8	70				
ZNF536	9745	broad.mit.edu	37	19	30935025	30935025	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr19:30935025G>T	ENST00000355537.3	+	2	703	c.556G>T	c.(556-558)Ggc>Tgc	p.G186C		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	186					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)	p.G186C(2)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GGGCAACCTGGGCAAGGGGCG	0.667																																							uc002nsu.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(7)|large_intestine(2)|skin(2)	11						c.(556-558)GGC>TGC		zinc finger protein 536							23.0	19.0	20.0					19																	30935025		2202	4298	6500	SO:0001583	missense	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:30935025G>T		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.556G>T	19.37:g.30935025G>T	ENSP00000347730:p.Gly186Cys					ZNF536_uc010edd.1_Missense_Mutation_p.G186C	p.G186C	NM_014717	NP_055532	O15090	ZN536_HUMAN			2	694	+	Esophageal squamous(110;0.0834)		186					A2RU18	Missense_Mutation	SNP	ENST00000355537.3	37	c.556G>T	CCDS32984.1	.	.	.	.	.	.	.	.	.	.	G	17.25	3.342663	0.61073	.	.	ENSG00000198597	ENST00000355537	T	0.10382	2.88	5.94	4.91	0.64330	.	0.000000	0.85682	D	0.000000	T	0.24470	0.0593	L	0.36672	1.1	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.83275	0.988;0.996	T	0.01330	-1.1383	10	0.72032	D	0.01	-31.1036	15.1232	0.72460	0.0676:0.0:0.9324:0.0	.	186;186	A7E228;O15090	.;ZN536_HUMAN	C	186	ENSP00000347730:G186C	ENSP00000347730:G186C	G	+	1	0	ZNF536	35626865	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	9.440000	0.97547	1.533000	0.49186	0.561000	0.74099	GGC		0.667	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		12	17	1	0	7.03913e-09	0.001368	9.30658e-09	12	17				
CD22	933	broad.mit.edu	37	19	35829249	35829249	+	Silent	SNP	C	C	G			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr19:35829249C>G	ENST00000085219.5	+	6	1230	c.1164C>G	c.(1162-1164)ccC>ccG	p.P388P	CD22_ENST00000544992.2_Silent_p.P388P|CD22_ENST00000341773.6_Intron|CD22_ENST00000594250.1_Intron|CD22_ENST00000419549.2_Silent_p.P216P|CD22_ENST00000536635.2_Intron|CD22_ENST00000270311.6_Silent_p.P268P	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule	388	Ig-like C2-type 3.				cell adhesion (GO:0007155)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)	p.P388P(1)		breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			AGATCCTCCCCTGGCACGCTG	0.532																																					Ovarian(42;1009 1133 23674 26041)	Ovarian(42;1009 1133 23674 26041)	uc010edt.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(5)|lung(3)|breast(1)	9						c.(1162-1164)CCC>CCG		CD22 molecule precursor	OspA lipoprotein(DB00045)						118.0	111.0	114.0					19																	35829249		2203	4300	6503	SO:0001819	synonymous_variant	933				cell adhesion		protein binding|sugar binding	g.chr19:35829249C>G	X52785	CCDS12457.1, CCDS54247.1, CCDS54248.1, CCDS54249.1, CCDS62634.1	19q13.1	2013-01-29	2006-03-28		ENSG00000012124	ENSG00000012124		"""CD molecules"", ""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1643	protein-coding gene	gene with protein product	"""sialic acid binding Ig-like lectin 2"""	107266	"""CD22 antigen"""			8496602, 1691828	Standard	NM_001185099		Approved	SIGLEC-2, SIGLEC2	uc010edt.3	P20273		ENST00000085219.5:c.1164C>G	19.37:g.35829249C>G						CD22_uc010xst.1_Silent_p.P216P|CD22_uc010edu.2_Intron|CD22_uc010edv.2_Silent_p.P388P|CD22_uc002nzb.3_Intron|CD22_uc010edx.2_RNA	p.P388P	NM_001771	NP_001762	P20273	CD22_HUMAN	Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		6	1241	+	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		388			Extracellular (Potential).|Ig-like C2-type 3.		F5GYU4|F5H7U3|O95699|O95701|O95702|O95703|Q01665|Q32M46|Q92872|Q92873|Q9UQA6|Q9UQA7|Q9UQA8|Q9UQA9|Q9UQB0|Q9Y2A6	Silent	SNP	ENST00000085219.5	37	c.1164C>G	CCDS12457.1																																																																																				0.532	CD22-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466099.1	NM_001771		6	84	0	0	0	0.001168	0	6	84				
HSPB6	126393	broad.mit.edu	37	19	36245208	36245208	+	IGR	SNP	G	G	C			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr19:36245208G>C	ENST00000592984.1	-	0	1634				LIN37_ENST00000301159.9_Missense_Mutation_p.R216P|AC002398.11_ENST00000591091.1_RNA|AC002398.12_ENST00000587767.1_RNA|AC002398.9_ENST00000591613.2_3'UTR			O14558	HSPB6_HUMAN	heat shock protein, alpha-crystallin-related, B6						regulation of muscle contraction (GO:0006937)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)|structural constituent of eye lens (GO:0005212)	p.R216P(1)		lung(1)	1	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CGCTGGAAACGCATCCGCCAG	0.637																																							uc002obm.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(646-648)CGC>CCC		lin-37 homolog							76.0	81.0	79.0					19																	36245208		2130	4238	6368	SO:0001628	intergenic_variant	55957						protein binding	g.chr19:36245208G>C	AJ278121	CCDS12475.1	19q13.13	2014-06-12			ENSG00000004776	ENSG00000004776		"""Heat shock proteins / HSPB"""	26511	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 91"""	610695				12820654, 14717697	Standard	NM_144617		Approved	FLJ32389, Hsp20, PPP1R91	uc002obn.2	O14558	OTTHUMG00000048122		19.37:g.36245208G>C						uc002obl.2_5'Flank	p.R216P	NM_019104	NP_061977	Q96GY3	LIN37_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		9	761	+	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		216					O14551|Q6NVI3|Q96MG9	Missense_Mutation	SNP	ENST00000592984.1	37	c.647G>C	CCDS12475.1	.	.	.	.	.	.	.	.	.	.	G	16.10	3.026025	0.54683	.	.	ENSG00000188223	ENST00000301159	T	0.46063	0.88	5.7	4.61	0.57282	.	0.201183	0.43110	D	0.000620	T	0.36771	0.0979	L	0.48642	1.525	0.38318	D	0.943451	P	0.41214	0.742	B	0.42692	0.395	T	0.37619	-0.9698	10	0.59425	D	0.04	-8.9545	6.6567	0.22990	0.0879:0.0:0.7337:0.1784	.	216	Q96GY3	LIN37_HUMAN	P	216	ENSP00000301159:R216P	ENSP00000301159:R216P	R	+	2	0	LIN37	40937048	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	3.127000	0.50484	2.695000	0.91970	0.655000	0.94253	CGC		0.637	HSPB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109498.3	NM_144617		39	49	0	0	0	0.00623	0	39	49				
ZFP14	57677	broad.mit.edu	37	19	36832249	36832249	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr19:36832249G>T	ENST00000270001.7	-	5	594	c.479C>A	c.(478-480)aCt>aAt	p.T160N		NM_020917.2	NP_065968.1	Q9HCL3	ZFP14_HUMAN	ZFP14 zinc finger protein	160					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T160N(1)		NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	26	Esophageal squamous(110;0.162)					CTGATACTCAGTAAGAAAATT	0.388																																							uc002odx.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(478-480)ACT>AAT		zinc finger protein 14-like							157.0	152.0	153.0					19																	36832249		2203	4300	6503	SO:0001583	missense	57677				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:36832249G>T	AB046779	CCDS33002.1	19q13.13	2013-01-08	2012-11-27			ENSG00000142065		"""Zinc fingers, C2H2-type"", ""-"""	29312	protein-coding gene	gene with protein product			"""zinc finger protein 14 homolog (mouse)"""			10997877	Standard	NM_020917		Approved	KIAA1559, ZNF531	uc010eex.2	Q9HCL3		ENST00000270001.7:c.479C>A	19.37:g.36832249G>T	ENSP00000270001:p.Thr160Asn					ZFP14_uc010xtd.1_Missense_Mutation_p.T161N|ZFP14_uc010eex.1_Missense_Mutation_p.T160N	p.T160N	NM_020917	NP_065968	Q9HCL3	ZFP14_HUMAN			4	572	-	Esophageal squamous(110;0.162)		160					A7MD23	Missense_Mutation	SNP	ENST00000270001.7	37	c.479C>A	CCDS33002.1	.	.	.	.	.	.	.	.	.	.	g	2.829	-0.243067	0.05906	.	.	ENSG00000142065	ENST00000270001;ENST00000392172	T	0.06608	3.28	4.15	3.12	0.35913	.	0.889057	0.09467	N	0.798209	T	0.04634	0.0126	N	0.17723	0.515	0.09310	N	0.999996	B;B	0.29716	0.042;0.255	B;B	0.31337	0.082;0.128	T	0.33085	-0.9882	10	0.10636	T	0.68	.	9.6989	0.40173	0.1063:0.0:0.8937:0.0	.	160;160	A8KAN8;Q9HCL3	.;ZFP14_HUMAN	N	160	ENSP00000270001:T160N	ENSP00000270001:T160N	T	-	2	0	ZFP14	41524089	0.644000	0.27277	0.604000	0.28916	0.436000	0.31835	-0.107000	0.10873	2.317000	0.78254	0.549000	0.68633	ACT		0.388	ZFP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452528.1	NM_020917		22	222	1	0	1.22574e-08	0.002299	1.61016e-08	22	222				
ZNF461	92283	broad.mit.edu	37	19	37129923	37129923	+	Nonsense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr19:37129923C>A	ENST00000588268.1	-	6	1551	c.1324G>T	c.(1324-1326)Gag>Tag	p.E442*	ZNF461_ENST00000360357.4_Nonsense_Mutation_p.E419*|ZNF461_ENST00000540605.2_5'UTR	NM_153257.2	NP_694989.2	Q8TAF7	ZN461_HUMAN	zinc finger protein 461	442					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E442*(1)|p.E315*(1)		endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|prostate(1)|urinary_tract(2)	29	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			TCCTTACACTCATAGGGTTTC	0.408																																							uc002oem.2		NA																	2	Substitution - Nonsense(2)		lung(2)		0						c.(1324-1326)GAG>TAG		gonadotropin inducible transcription repressor							55.0	59.0	58.0					19																	37129923		2200	4299	6499	SO:0001587	stop_gained	92283				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37129923C>A	BX649031	CCDS54257.1, CCDS74348.1	19q13.13	2013-01-08				ENSG00000197808		"""Zinc fingers, C2H2-type"", ""-"""	21629	protein-coding gene	gene with protein product		608640				11579202, 15004467	Standard	XM_005259402		Approved	GIOT-1, MGC33911	uc002oem.3	Q8TAF7		ENST00000588268.1:c.1324G>T	19.37:g.37129923C>A	ENSP00000467931:p.Glu442*					ZNF461_uc002oen.2_Nonsense_Mutation_p.E411*|ZNF461_uc010xtj.1_Nonsense_Mutation_p.E419*	p.E442*	NM_153257	NP_694989	Q8TAF7	ZN461_HUMAN	COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)		6	1552	-	Esophageal squamous(110;0.198)		442			C2H2-type 9.		A8K9W9|Q6VSF7|Q9ULZ8	Nonsense_Mutation	SNP	ENST00000588268.1	37	c.1324G>T	CCDS54257.1	.	.	.	.	.	.	.	.	.	.	C	37	6.002508	0.97189	.	.	ENSG00000197808	ENST00000396893;ENST00000396896;ENST00000360357;ENST00000540605	.	.	.	3.48	2.43	0.29744	.	.	.	.	.	.	.	.	.	.	.	0.58432	D	0.999998	.	.	.	.	.	.	.	.	.	.	0.19590	T	0.45	.	1.927	0.03319	0.2069:0.4731:0.2004:0.1196	.	.	.	.	X	442;173;419;315	.	ENSP00000353515:E419X	E	-	1	0	ZNF461	41821763	0.000000	0.05858	1.000000	0.80357	0.992000	0.81027	-3.153000	0.00581	1.941000	0.56285	0.491000	0.48974	GAG		0.408	ZNF461-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453202.1	NM_153257		21	36	1	0	4.96729e-08	0.008871	6.3776e-08	21	36				
ZNF585B	92285	broad.mit.edu	37	19	37677515	37677515	+	Silent	SNP	A	A	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr19:37677515A>T	ENST00000532828.2	-	5	1175	c.924T>A	c.(922-924)atT>atA	p.I308I	ZNF585B_ENST00000312908.5_5'UTR|ZNF585B_ENST00000527838.1_3'UTR|ZNF585B_ENST00000531805.1_Silent_p.I253I|CTC-454I21.3_ENST00000585860.2_Intron	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	zinc finger protein 585B	308					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.I308I(1)		NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GTGACTTGGAAATGAAGGATT	0.418																																					Melanoma(93;882 1454 18863 28917 48427)	Melanoma(93;882 1454 18863 28917 48427)	uc002ofq.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(922-924)ATT>ATA		zinc finger protein 585B							246.0	226.0	233.0					19																	37677515		2203	4300	6503	SO:0001819	synonymous_variant	92285				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:37677515A>T	AK027834	CCDS12500.1	19q13.13	2013-01-08				ENSG00000245680		"""Zinc fingers, C2H2-type"", ""-"""	30948	protein-coding gene	gene with protein product						12477932	Standard	NM_152279		Approved	FLJ14928, SZFP41	uc002ofq.3	Q52M93		ENST00000532828.2:c.924T>A	19.37:g.37677515A>T						uc002ofp.1_5'Flank|ZNF585B_uc002ofr.1_Silent_p.I122I	p.I308I	NM_152279	NP_689492	Q52M93	Z585B_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	1178	-			308			C2H2-type 6.		Q8IZD3|Q96JW6	Silent	SNP	ENST00000532828.2	37	c.924T>A	CCDS12500.1																																																																																				0.418	ZNF585B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388272.2	NM_152279		51	209	0	0	0	0.00361	0	51	209				
ZNF546	339327	broad.mit.edu	37	19	40504258	40504258	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr19:40504258G>T	ENST00000347077.4	+	3	241	c.25G>T	c.(25-27)Ggg>Tgg	p.G9W	ZNF546_ENST00000596894.1_Intron|ZNF546_ENST00000600094.1_Intron	NM_178544.3	NP_848639.2	Q86UE3	ZN546_HUMAN	zinc finger protein 546	9					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G9W(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	34	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TCCTCTTCACGGGCCTCCAAA	0.428																																							uc002oms.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)|skin(1)	3						c.(25-27)GGG>TGG		zinc finger protein 546							95.0	91.0	92.0					19																	40504258		2203	4300	6503	SO:0001583	missense	339327				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:40504258G>T	BC045649	CCDS12548.1	19q13.2	2013-01-08				ENSG00000187187		"""Zinc fingers, C2H2-type"", ""-"""	28671	protein-coding gene	gene with protein product				ZNF49		12477932	Standard	XM_005258853		Approved	MGC43537	uc002oms.2	Q86UE3		ENST00000347077.4:c.25G>T	19.37:g.40504258G>T	ENSP00000339823:p.Gly9Trp					ZNF546_uc002omt.2_Intron	p.G9W	NM_178544	NP_848639	Q86UE3	ZN546_HUMAN			3	281	+	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)		9					A8K913	Missense_Mutation	SNP	ENST00000347077.4	37	c.25G>T	CCDS12548.1	.	.	.	.	.	.	.	.	.	.	g	8.957	0.969647	0.18659	.	.	ENSG00000187187	ENST00000347077	T	0.08102	3.13	1.53	-2.12	0.07165	.	.	.	.	.	T	0.03477	0.0100	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.40496	-0.9560	9	0.41790	T	0.15	.	3.1893	0.06612	0.0:0.3726:0.2731:0.3543	.	9	Q86UE3	ZN546_HUMAN	W	9	ENSP00000339823:G9W	ENSP00000339823:G9W	G	+	1	0	ZNF546	45196098	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.773000	0.04689	-0.784000	0.04528	-1.614000	0.00798	GGG		0.428	ZNF546-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462495.2	NM_178544		15	40	1	0	1.52009e-12	0.003163	2.30153e-12	15	40				
MAP3K10	4294	broad.mit.edu	37	19	40704286	40704286	+	Silent	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr19:40704286G>T	ENST00000253055.3	+	2	975	c.687G>T	c.(685-687)ctG>ctT	p.L229L	MAP3K10_ENST00000593906.1_3'UTR	NM_002446.3	NP_002437.2	Q02779	M3K10_HUMAN	mitogen-activated protein kinase kinase kinase 10	229	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|JNK cascade (GO:0007254)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of apoptotic process (GO:0043065)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|protein autophosphorylation (GO:0046777)|signal transduction (GO:0007165)|smoothened signaling pathway (GO:0007224)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|bHLH transcription factor binding (GO:0043425)|JUN kinase kinase kinase activity (GO:0004706)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription corepressor activity (GO:0003714)	p.L229L(1)		NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						CCACAGTCCTGATCCTGGAGG	0.612																																							uc002ona.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|lung(2)|skin(1)|pancreas(1)	6						c.(685-687)CTG>CTT		mitogen-activated protein kinase kinase kinase							81.0	69.0	73.0					19																	40704286		2203	4300	6503	SO:0001819	synonymous_variant	4294				activation of JUN kinase activity|induction of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of JNK cascade|protein autophosphorylation|smoothened signaling pathway	cytoplasm	ATP binding|bHLH transcription factor binding|JUN kinase kinase kinase activity|protein homodimerization activity|transcription corepressor activity	g.chr19:40704286G>T	X90846	CCDS12549.1	19q13.2	2014-08-12			ENSG00000130758		2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6849	protein-coding gene	gene with protein product	"""MKN28 kinase"", ""mixed lineage kinase 2"", ""MKN28 derived nonreceptor_type serine/threonine kinase"""	600137		MLK2		8536694, 7731697	Standard	NM_002446		Approved	MST, MEKK10	uc002ona.3	Q02779	OTTHUMG00000182591	ENST00000253055.3:c.687G>T	19.37:g.40704286G>T						MAP3K10_uc002onb.2_5'UTR	p.L229L	NM_002446	NP_002437	Q02779	M3K10_HUMAN			2	975	+			229			Protein kinase.		Q12761|Q14871	Silent	SNP	ENST00000253055.3	37	c.687G>T	CCDS12549.1																																																																																				0.612	MAP3K10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462552.1	NM_002446		6	25	1	0	3.59834e-05	0.001168	4.1695e-05	6	25				
ADCK4	79934	broad.mit.edu	37	19	41206254	41206254	+	Silent	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr19:41206254C>A	ENST00000324464.3	-	11	1297	c.996G>T	c.(994-996)ctG>ctT	p.L332L	ADCK4_ENST00000243583.6_Silent_p.L291L|ADCK4_ENST00000450541.1_Silent_p.L291L	NM_024876.3	NP_079152.3	Q96D53	ADCK4_HUMAN	aarF domain containing kinase 4	332	Protein kinase.					integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	protein serine/threonine kinase activity (GO:0004674)	p.L332L(2)		NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(6)|stomach(2)|urinary_tract(1)	17			Lung(22;9.49e-05)|LUSC - Lung squamous cell carcinoma(20;0.000219)			GGCACTGGTCCAGGGGGACCC	0.662																																							uc002oor.2		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(994-996)CTG>CTT		aarF domain containing kinase 4 isoform a							38.0	40.0	39.0					19																	41206254		2203	4300	6503	SO:0001819	synonymous_variant	79934					integral to membrane	protein serine/threonine kinase activity	g.chr19:41206254C>A	AK022291	CCDS12562.1, CCDS46081.1	19q13.2	2008-02-05				ENSG00000123815			19041	protein-coding gene	gene with protein product		615567					Standard	NM_024876		Approved	FLJ12229, COQ8	uc002oor.2	Q96D53		ENST00000324464.3:c.996G>T	19.37:g.41206254C>A						ADCK4_uc002oop.1_Silent_p.L9L|ADCK4_uc002ooq.1_Silent_p.L291L	p.L332L	NM_024876	NP_079152	Q96D53	ADCK4_HUMAN	Lung(22;9.49e-05)|LUSC - Lung squamous cell carcinoma(20;0.000219)		11	1298	-			332			Protein kinase.		Q8TAJ1|Q9HA52	Silent	SNP	ENST00000324464.3	37	c.996G>T	CCDS12562.1																																																																																				0.662	ADCK4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462731.1	NM_024876		5	67	1	0	0.00116845	0.001168	0.00127037	5	67				
CYP2B6	1555	broad.mit.edu	37	19	41522649	41522649	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr19:41522649C>T	ENST00000324071.4	+	9	1400	c.1393C>T	c.(1393-1395)Cca>Tca	p.P465S	CYP2B6_ENST00000330446.5_Missense_Mutation_p.P265S|CYP2B6_ENST00000593831.1_Missense_Mutation_p.P229S	NM_000767.4	NP_000758.1	P20813	CP2B6_HUMAN	cytochrome P450, family 2, subfamily B, polypeptide 6	465					cellular ketone metabolic process (GO:0042180)|drug metabolic process (GO:0017144)|exogenous drug catabolic process (GO:0042738)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)	p.P465S(1)		NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Antipyrine(DB01435)|Artemether(DB06697)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzphetamine(DB00865)|Benzyl alcohol(DB06770)|Bifonazole(DB04794)|Brompheniramine(DB00835)|Bupropion(DB01156)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Cholecalciferol(DB00169)|Cinnarizine(DB00568)|Cisapride(DB00604)|Cisplatin(DB00515)|Citalopram(DB00215)|Clobazam(DB00349)|Clofibrate(DB00636)|Clopidogrel(DB00758)|Clotiazepam(DB01559)|Clotrimazole(DB00257)|Colchicine(DB01394)|Cyclophosphamide(DB00531)|Desipramine(DB01151)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diphenhydramine(DB01075)|Domperidone(DB01184)|Doxorubicin(DB00997)|Efavirenz(DB00625)|Enzalutamide(DB08899)|Epinastine(DB00751)|Erythromycin(DB00199)|Estrone(DB00655)|Ethanol(DB00898)|Ethylmorphine(DB01466)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluoxetine(DB00472)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Fosphenytoin(DB01320)|Halothane(DB01159)|Ifosfamide(DB01181)|Imipramine(DB00458)|Irinotecan(DB00762)|Isoflurane(DB00753)|Itraconazole(DB01167)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Lidocaine(DB00281)|Loperamide(DB00836)|Lopinavir(DB01601)|Lorcaserin(DB04871)|Malathion(DB00772)|Memantine(DB01043)|Methadone(DB00333)|Methimazole(DB00763)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyltestosterone(DB06710)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Midazolam(DB00683)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nitric Oxide(DB00435)|Orphenadrine(DB01173)|Ospemifene(DB04938)|Paroxetine(DB00715)|Perhexiline(DB01074)|Permethrin(DB04930)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Prasugrel(DB06209)|Primidone(DB00794)|Promethazine(DB01069)|Propofol(DB00818)|Quinidine(DB00908)|Raloxifene(DB00481)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Ropivacaine(DB00296)|Roxithromycin(DB00778)|Selegiline(DB01037)|Sertraline(DB01104)|Sevoflurane(DB01236)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sulfaphenazole(DB06729)|Sulfinpyrazone(DB01138)|Tamoxifen(DB00675)|Temazepam(DB00231)|Testosterone(DB00624)|Thiotepa(DB04572)|Ticlopidine(DB00208)|Tramadol(DB00193)|Tretinoin(DB00755)|Valproic Acid(DB00313)|Venlafaxine(DB00285)|Verapamil(DB00661)	CCCCGTGGCCCCAGAAGACAT	0.587																																							uc002opr.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1393-1395)CCA>TCA		cytochrome P450, family 2, subfamily B,	Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)						73.0	56.0	62.0					19																	41522649		2203	4300	6503	SO:0001583	missense	1555				cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr19:41522649C>T	AF182277	CCDS12570.1	19q13.2	2013-07-25	2003-01-14		ENSG00000197408	ENSG00000197408		"""Cytochrome P450s"""	2615	protein-coding gene	gene with protein product		123930	"""cytochrome P450, subfamily IIB (phenobarbital-inducible), polypeptide 6"", ""cytochrome P450, family 2, subfamily B"", ""cytochrome P450, subfamily IIB (phenobarbital-inducible)"""	CYP2B		7668294, 15128046	Standard	NM_000767		Approved	CPB6, CYPIIB6	uc002opr.1	P20813	OTTHUMG00000182714	ENST00000324071.4:c.1393C>T	19.37:g.41522649C>T	ENSP00000324648:p.Pro465Ser					CYP2A7_uc002opo.2_Intron|CYP2B6_uc010xvu.1_Missense_Mutation_p.P265S	p.P465S	NM_000767	NP_000758	P20813	CP2B6_HUMAN	LUSC - Lung squamous cell carcinoma(20;0.00322)		9	1400	+			465					B4DWP3|Q2V565|Q9UK46	Missense_Mutation	SNP	ENST00000324071.4	37	c.1393C>T	CCDS12570.1	.	.	.	.	.	.	.	.	.	.	C	10.75	1.438628	0.25900	.	.	ENSG00000197408	ENST00000324071;ENST00000330446	T;T	0.69685	-0.42;-0.42	4.52	3.49	0.39957	.	0.065122	0.64402	U	0.000007	T	0.60090	0.2242	L	0.54323	1.7	0.09310	N	1	B;P	0.38148	0.099;0.62	B;B	0.41374	0.03;0.355	T	0.57248	-0.7844	10	0.66056	D	0.02	.	5.4689	0.16658	0.1976:0.7002:0.0:0.1022	.	265;465	B4DWP3;P20813	.;CP2B6_HUMAN	S	465;265	ENSP00000324648:P465S;ENSP00000330650:P265S	ENSP00000324648:P465S	P	+	1	0	CYP2B6	46214489	0.047000	0.20315	0.012000	0.15200	0.001000	0.01503	1.130000	0.31393	1.120000	0.41904	0.460000	0.39030	CCA		0.587	CYP2B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463260.1	NM_000767		12	33	0	0	0	0.001368	0	12	33				
ZNF45	7596	broad.mit.edu	37	19	44417580	44417580	+	Missense_Mutation	SNP	C	C	G			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr19:44417580C>G	ENST00000269973.5	-	10	3098	c.2008G>C	c.(2008-2010)Gac>Cac	p.D670H	ZNF45_ENST00000589703.1_Missense_Mutation_p.D670H|RP11-15A1.2_ENST00000586247.1_RNA	NM_003425.3	NP_003416.1	Q02386	ZNF45_HUMAN	zinc finger protein 45	670					gene expression (GO:0010467)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D670H(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	17						GAAGGAAAGTCCTTGTCACCC	0.398																																							uc002oxu.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(2008-2010)GAC>CAC		zinc finger protein 45							77.0	71.0	73.0					19																	44417580		2203	4300	6503	SO:0001583	missense	7596				multicellular organismal development	nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:44417580C>G	M67509	CCDS12632.1	19q13.2	2013-01-08	2005-01-11			ENSG00000124459		"""Zinc fingers, C2H2-type"", ""-"""	13111	protein-coding gene	gene with protein product		194554	"""zinc finger protein 45 (a Kruppel-associated box (KRAB) domain polypeptide)"", ""zinc finger protein 13"""	ZNF13		9067431	Standard	NM_003425		Approved		uc002oxw.2	Q02386		ENST00000269973.5:c.2008G>C	19.37:g.44417580C>G	ENSP00000269973:p.Asp670His					ZNF45_uc002oxw.1_Missense_Mutation_p.D670H|ZNF45_uc002oxv.1_Missense_Mutation_p.D670H	p.D670H	NM_003425	NP_003416	Q02386	ZNF45_HUMAN			4	2107	-			670					P17016|P78472|Q9P1U9	Missense_Mutation	SNP	ENST00000269973.5	37	c.2008G>C	CCDS12632.1	.	.	.	.	.	.	.	.	.	.	C	8.534	0.871632	0.17322	.	.	ENSG00000124459	ENST00000269973	T	0.07688	3.17	4.52	2.24	0.28232	.	0.480523	0.15484	N	0.259960	T	0.10508	0.0257	M	0.64170	1.965	0.09310	N	1	B	0.09022	0.002	B	0.10450	0.005	T	0.18366	-1.0339	10	0.72032	D	0.01	-5.0595	8.9199	0.35605	0.1576:0.5363:0.3061:0.0	.	670	Q02386	ZNF45_HUMAN	H	670	ENSP00000269973:D670H	ENSP00000269973:D670H	D	-	1	0	ZNF45	49109420	.	.	0.001000	0.08648	0.723000	0.41478	.	.	0.575000	0.29434	0.555000	0.69702	GAC		0.398	ZNF45-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459919.1	NM_003425		22	65	0	0	0	0.00278	0	22	65				
ZNF155	7711	broad.mit.edu	37	19	44501580	44501580	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr19:44501580G>C	ENST00000270014.2	+	5	1699	c.1571G>C	c.(1570-1572)cGc>cCc	p.R524P	RP11-15A1.7_ENST00000589021.1_RNA|ZNF155_ENST00000590615.1_Missense_Mutation_p.R524P|RP11-15A1.7_ENST00000586860.1_RNA|ZNF155_ENST00000407951.2_Missense_Mutation_p.R535P	NM_001260487.1|NM_198089.2	NP_001247416|NP_932355	Q12901	ZN155_HUMAN	zinc finger protein 155	524					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R524P(1)		endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	15		Prostate(69;0.0352)				TACAAGAGGCGCTTGAATCTG	0.388																																					NSCLC(61;554 1277 20909 42067 42312)	NSCLC(61;554 1277 20909 42067 42312)	uc002oxy.1		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(1570-1572)CGC>CCC		zinc finger protein 155							67.0	67.0	67.0					19																	44501580		2203	4300	6503	SO:0001583	missense	7711					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:44501580G>C	U09852	CCDS12634.1, CCDS58668.1	19q13.2-q13.32	2013-01-08	2006-08-22			ENSG00000204920		"""Zinc fingers, C2H2-type"", ""-"""	12940	protein-coding gene	gene with protein product		604086	"""zinc finger protein 155 (pHZ-96)"""			7557990	Standard	NM_001260486		Approved	pHZ-96	uc010xwt.2	Q12901		ENST00000270014.2:c.1571G>C	19.37:g.44501580G>C	ENSP00000270014:p.Arg524Pro					ZNF155_uc002oxz.1_Missense_Mutation_p.R524P|ZNF155_uc010xwt.1_Missense_Mutation_p.R535P|uc010ejc.1_RNA	p.R524P	NM_003445	NP_003436	Q12901	ZN155_HUMAN			5	1776	+		Prostate(69;0.0352)	524					A2BDE6|B2RB63|B4DM95|J3KQ08|Q6AZZ8|Q9UIE1|Q9UK14	Missense_Mutation	SNP	ENST00000270014.2	37	c.1571G>C	CCDS12634.1	.	.	.	.	.	.	.	.	.	.	G	10.63	1.404358	0.25378	.	.	ENSG00000204920	ENST00000407951;ENST00000270014	T;T	0.06068	3.37;3.35	2.52	-1.49	0.08718	.	.	.	.	.	T	0.09642	0.0237	L	0.39633	1.23	0.09310	N	1	D;P	0.62365	0.991;0.87	P;B	0.57720	0.826;0.393	T	0.21245	-1.0251	9	0.52906	T	0.07	.	3.4036	0.07332	0.3994:0.2048:0.3958:0.0	.	535;524	B4DM95;Q12901	.;ZN155_HUMAN	P	535;524	ENSP00000385163:R535P;ENSP00000270014:R524P	ENSP00000270014:R524P	R	+	2	0	ZNF155	49193420	0.004000	0.15560	0.000000	0.03702	0.001000	0.01503	1.036000	0.30228	-0.360000	0.08138	-0.291000	0.09656	CGC		0.388	ZNF155-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000460074.1	NM_003445		34	36	0	0	0	0.004878	0	34	36				
RSPH6A	81492	broad.mit.edu	37	19	46299364	46299364	+	Splice_Site	SNP	T	T	C			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr19:46299364T>C	ENST00000221538.3	-	6	2059	c.1917A>G	c.(1915-1917)aaA>aaG	p.K639K	RSPH6A_ENST00000597055.1_Intron|RSPH6A_ENST00000600188.1_Splice_Site_p.K375K	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN	radial spoke head 6 homolog A (Chlamydomonas)	639	Glu-rich.					intracellular (GO:0005622)		p.K639K(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						TCTCAAACTTTCTGGAGAAGC	0.493																																							uc002pdm.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1915-1917)AAA>AAG		radial spokehead-like 1							66.0	70.0	69.0					19																	46299364		2203	4300	6503	SO:0001630	splice_region_variant	81492					intracellular		g.chr19:46299364T>C	AL136761	CCDS12675.1	19q13.3	2010-02-17	2009-11-18	2009-11-18	ENSG00000104941	ENSG00000104941			14241	protein-coding gene	gene with protein product		607548	"""radial spokehead-like 1"""	RSHL1		11237735	Standard	NM_030785		Approved	RSP4, RSP6, RSPH4B	uc002pdm.3	Q9H0K4		ENST00000221538.3:c.1917-1A>G	19.37:g.46299364T>C						RSPH6A_uc002pdl.2_Silent_p.K375K	p.K639K	NM_030785	NP_110412	Q9H0K4	RSH6A_HUMAN			6	2060	-			639			Glu-rich.		Q53FE2|Q6PEZ9	Silent	SNP	ENST00000221538.3	37	c.1917A>G	CCDS12675.1																																																																																				0.493	RSPH6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461657.1		Silent	29	107	0	0	0	0.00632	0	29	107				
CRX	1406	broad.mit.edu	37	19	48343139	48343139	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr19:48343139C>A	ENST00000221996.7	+	4	1021	c.815C>A	c.(814-816)cCc>cAc	p.P272H	TPRX2P_ENST00000535362.1_Intron|CRX_ENST00000539067.1_Missense_Mutation_p.P272H	NM_000554.4	NP_000545.1	O43186	CRX_HUMAN	cone-rod homeobox	272					circadian rhythm (GO:0007623)|organ morphogenesis (GO:0009887)|positive regulation of photoreceptor cell differentiation (GO:0046534)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|leucine zipper domain binding (GO:0043522)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P272H(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|urinary_tract(1)	23		all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521)		TTCAAGGACCCCACGGGCACC	0.587																																					Pancreas(57;461 1196 22201 40716 47188)	Pancreas(57;461 1196 22201 40716 47188)	uc002phq.3		NA																	1	Substitution - Missense(1)		lung(1)	breast(1)|central_nervous_system(1)	2						c.(814-816)CCC>CAC		cone-rod homeobox protein							93.0	99.0	97.0					19																	48343139		2202	4295	6497	SO:0001583	missense	1406				organ morphogenesis|response to stimulus|visual perception		leucine zipper domain binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:48343139C>A	AF024711	CCDS12706.1	19q13.3	2013-01-08				ENSG00000105392		"""Homeoboxes / PRD class"""	2383	protein-coding gene	gene with protein product	"""orthodenticle homeobox 3"""	602225		CORD2		9390563, 9537410	Standard	NM_000554		Approved	CRD, LCA7, OTX3	uc002phq.4	O43186		ENST00000221996.7:c.815C>A	19.37:g.48343139C>A	ENSP00000221996:p.Pro272His						p.P272H	NM_000554	NP_000545	O43186	CRX_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521)	4	1019	+		all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)	272					Q0QD45	Missense_Mutation	SNP	ENST00000221996.7	37	c.815C>A	CCDS12706.1	.	.	.	.	.	.	.	.	.	.	C	14.75	2.628285	0.46944	.	.	ENSG00000105392	ENST00000221996;ENST00000539067	D;D	0.90444	-2.67;-2.67	3.9	3.9	0.45041	.	0.073044	0.56097	D	0.000026	D	0.87422	0.6173	N	0.19112	0.55	0.31899	N	0.616218	D	0.65815	0.995	P	0.55615	0.78	D	0.87251	0.2273	10	0.54805	T	0.06	-11.1655	8.7742	0.34751	0.2254:0.7746:0.0:0.0	.	272	O43186	CRX_HUMAN	H	272	ENSP00000221996:P272H;ENSP00000445565:P272H	ENSP00000221996:P272H	P	+	2	0	CRX	53034951	0.999000	0.42202	0.999000	0.59377	0.928000	0.56348	3.986000	0.56937	1.998000	0.58463	0.467000	0.42956	CCC		0.587	CRX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409812.4	NM_000554		53	151	1	0	5.39261e-20	0.00361	9.37287e-20	53	151				
SNRNP70	6625	broad.mit.edu	37	19	49610944	49610944	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr19:49610944G>T	ENST00000598441.1	+	9	864	c.640G>T	c.(640-642)Gat>Tat	p.D214Y	SNRNP70_ENST00000221448.5_Missense_Mutation_p.D214Y			P08621	RU17_HUMAN	small nuclear ribonucleoprotein 70kDa (U1)	214					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U1 snRNP (GO:0005685)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.D214Y(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|skin(2)	12						TTCAGGCCGCGATGACACCTC	0.657																																							uc002pmk.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(640-642)GAT>TAT		U1 small nuclear ribonucleoprotein 70 kDa							59.0	56.0	57.0					19																	49610944		2203	4300	6503	SO:0001583	missense	6625				nuclear mRNA splicing, via spliceosome|regulation of RNA splicing	nucleoplasm|spliceosomal complex	nucleotide binding|protein binding|RNA binding	g.chr19:49610944G>T		CCDS12756.1, CCDS74417.1	19q13.3	2013-02-12	2008-10-29	2008-10-29		ENSG00000104852		"""RNA binding motif (RRM) containing"""	11150	protein-coding gene	gene with protein product		180740	"""small nuclear ribonucleoprotein 70kDa (RNP antigen)"""	RNPU1Z, RPU1, SNRP70			Standard	XM_005259177		Approved	U1-70K, Snp1	uc021uxh.1	P08621		ENST00000598441.1:c.640G>T	19.37:g.49610944G>T	ENSP00000472998:p.Asp214Tyr					SNRNP70_uc002pmh.1_RNA|SNRNP70_uc002pmi.1_Missense_Mutation_p.D214Y|SNRNP70_uc002pml.2_5'UTR|SNRNP70_uc002pmm.2_RNA	p.D214Y	NM_003089	NP_003080	P08621	RU17_HUMAN			9	1079	+			214					B3KUA3|P78493|P78494|Q15364|Q15686|Q15687|Q15689|Q99377|Q9UE45|Q9UE46|Q9UE47|Q9UE48|Q9UFQ6	Missense_Mutation	SNP	ENST00000598441.1	37	c.640G>T	CCDS12756.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.470052	0.84533	.	.	ENSG00000104852	ENST00000221448;ENST00000544278	T	0.05382	3.45	4.52	4.52	0.55395	.	0.103455	0.64402	D	0.000006	T	0.22126	0.0533	L	0.57536	1.79	0.80722	D	1	D;D	0.89917	0.996;1.0	P;D	0.87578	0.834;0.998	T	0.00666	-1.1619	10	0.87932	D	0	-19.6188	16.3877	0.83522	0.0:0.0:1.0:0.0	.	214;214	P08621;P08621-2	RU17_HUMAN;.	Y	214;118	ENSP00000221448:D214Y	ENSP00000221448:D214Y	D	+	1	0	SNRNP70	54302756	1.000000	0.71417	0.708000	0.30435	0.978000	0.69477	8.562000	0.90719	2.238000	0.73509	0.462000	0.41574	GAT		0.657	SNRNP70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466266.1	NM_003089		21	46	1	0	1.96292e-10	0.010504	2.75943e-10	21	46				
SHANK1	50944	broad.mit.edu	37	19	51220046	51220046	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr19:51220046C>A	ENST00000293441.1	-	1	149	c.131G>T	c.(130-132)gGc>gTc	p.G44V	SHANK1_ENST00000391814.1_Missense_Mutation_p.G44V|SHANK1_ENST00000359082.3_Missense_Mutation_p.G44V	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	44					adult behavior (GO:0030534)|associative learning (GO:0008306)|cytoskeletal anchoring at plasma membrane (GO:0007016)|dendritic spine morphogenesis (GO:0060997)|determination of affect (GO:0050894)|habituation (GO:0046959)|long-term memory (GO:0007616)|negative regulation of actin filament bundle assembly (GO:0032232)|neuromuscular process controlling balance (GO:0050885)|olfactory behavior (GO:0042048)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|righting reflex (GO:0060013)|social behavior (GO:0035176)|synapse maturation (GO:0060074)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|excitatory synapse (GO:0060076)|intracellular (GO:0005622)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ankyrin repeat binding (GO:0071532)|GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|somatostatin receptor binding (GO:0031877)	p.G44V(1)		breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		TGCCCCACTGCCCTGGCCCCG	0.682																																							uc002psx.1		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(2)	2						c.(130-132)GGC>GTC		SH3 and multiple ankyrin repeat domains 1							28.0	28.0	28.0					19																	51220046		2202	4299	6501	SO:0001583	missense	50944				cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding	g.chr19:51220046C>A	AF163302	CCDS12799.1	19q13.3	2013-01-10			ENSG00000161681	ENSG00000161681		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	15474	protein-coding gene	gene with protein product	"""somatostatin receptor-interacting protein"""	604999				10551867	Standard	NM_016148		Approved	SSTRIP, SPANK-1, synamon	uc002psx.1	Q9Y566	OTTHUMG00000137380	ENST00000293441.1:c.131G>T	19.37:g.51220046C>A	ENSP00000293441:p.Gly44Val						p.G44V	NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)	1	150	-		all_neural(266;0.057)	44					A8MXP5|B7WNY6|Q9NYW9	Missense_Mutation	SNP	ENST00000293441.1	37	c.131G>T	CCDS12799.1	.	.	.	.	.	.	.	.	.	.	C	10.94	1.493220	0.26774	.	.	ENSG00000161681	ENST00000293441;ENST00000359082;ENST00000391814	T;T;T	0.38722	1.24;1.22;1.12	3.18	2.0	0.26442	.	1.526920	0.05063	U	0.480276	T	0.21387	0.0515	N	0.08118	0	0.44042	D	0.996773	B	0.30068	0.267	B	0.22386	0.039	T	0.28681	-1.0036	10	0.25751	T	0.34	.	5.963	0.19310	0.0:0.5695:0.3048:0.1257	.	44	Q9Y566	SHAN1_HUMAN	V	44	ENSP00000293441:G44V;ENSP00000351984:G44V;ENSP00000375690:G44V	ENSP00000293441:G44V	G	-	2	0	SHANK1	55911858	0.995000	0.38212	1.000000	0.80357	0.726000	0.41606	1.458000	0.35223	1.504000	0.48704	0.282000	0.19409	GGC		0.682	SHANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268071.1	NM_016148		5	22	1	0	0.000602214	0.000602	0.000660368	5	22				
KLK4	9622	broad.mit.edu	37	19	51411735	51411735	+	Silent	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr19:51411735C>A	ENST00000324041.1	-	4	491	c.492G>T	c.(490-492)gtG>gtT	p.V164V	KLK4_ENST00000431178.2_Intron|KLK4_ENST00000597441.1_5'Flank	NM_004917.3	NP_004908.3	Q9Y5K2	KLK4_HUMAN	kallikrein-related peptidase 4	164	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				amelogenesis (GO:0097186)|extracellular matrix disassembly (GO:0022617)|protein catabolic process (GO:0030163)|proteolysis (GO:0006508)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.V164V(1)		autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(8)	19		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00624)|GBM - Glioblastoma multiforme(134;0.00878)		CGCACTGCAGCACGGTAGGCA	0.642																																							uc002pua.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(490-492)GTG>GTT		kallikrein-related peptidase 4 preproprotein							121.0	104.0	110.0					19																	51411735		2203	4300	6503	SO:0001819	synonymous_variant	9622				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity	g.chr19:51411735C>A	AF113141	CCDS12809.1	19q13.41	2014-09-04	2006-10-27		ENSG00000167749	ENSG00000167749		"""Kallikreins"", ""Serine peptidases / Serine peptidases"""	6365	protein-coding gene	gene with protein product		603767	"""kallikrein 4 (prostase, enamel matrix, prostate)"""	PRSS17		10077646, 10438493, 16800724, 10863090, 9465170	Standard	XM_005259441		Approved	EMSP, EMSP1, PSTS, KLK-L1	uc002pua.1	Q9Y5K2	OTTHUMG00000182964	ENST00000324041.1:c.492G>T	19.37:g.51411735C>A						KLK4_uc002pty.1_Intron|KLK4_uc002ptz.1_RNA|KLK4_uc002pub.1_Silent_p.V69V|KLK4_uc002puc.1_RNA|KLK4_uc010eoi.1_Missense_Mutation_p.C97F|KLK4_uc002pud.1_Silent_p.V69V	p.V164V	NM_004917	NP_004908	Q9Y5K2	KLK4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00624)|GBM - Glioblastoma multiforme(134;0.00878)	4	492	-		all_neural(266;0.026)	164			Peptidase S1.		Q4VB16|Q96RU5|Q9GZL6|Q9UBJ6	Silent	SNP	ENST00000324041.1	37	c.492G>T	CCDS12809.1																																																																																				0.642	KLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464449.1	NM_004917		34	43	1	0	3.11337e-16	0.002836	5.14034e-16	34	43				
ZNF816	125893	broad.mit.edu	37	19	53454041	53454041	+	Missense_Mutation	SNP	T	T	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr19:53454041T>A	ENST00000357666.4	-	5	1287	c.987A>T	c.(985-987)agA>agT	p.R329S	ZNF816_ENST00000434371.2_Intron|ZNF816_ENST00000444460.2_Missense_Mutation_p.R329S|ZNF321P_ENST00000391777.3_Intron	NM_001031665.2	NP_001026835.1	Q0VGE8	ZN816_HUMAN	zinc finger protein 816	329					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R329S(1)		central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2)	27						TACGATGGCATCTAAGGGATG	0.423																																							uc002qal.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(985-987)AGA>AGT		zinc finger protein 816A							159.0	165.0	163.0					19																	53454041		2203	4300	6503	SO:0001583	missense	125893				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53454041T>A	BC063805	CCDS33096.1	19q13.41	2013-01-08	2010-07-23	2010-07-23		ENSG00000180257		"""Zinc fingers, C2H2-type"", ""-"""	26995	protein-coding gene	gene with protein product			"""zinc finger protein 816A"""	ZNF816A			Standard	NM_001031665		Approved		uc002qam.2	Q0VGE8		ENST00000357666.4:c.987A>T	19.37:g.53454041T>A	ENSP00000350295:p.Arg329Ser					ZNF321_uc010eqj.2_Intron|ZNF321_uc002qak.1_Intron|ZNF816A_uc002qam.1_Missense_Mutation_p.R313S	p.R329S	NM_001031665	NP_001026835	Q0VGE8	ZN816_HUMAN		GBM - Glioblastoma multiforme(134;0.0313)	5	1288	-			329			C2H2-type 4.		A8K7H5|Q3KR39|Q659B3	Missense_Mutation	SNP	ENST00000357666.4	37	c.987A>T	CCDS33096.1	.	.	.	.	.	.	.	.	.	.	-	2.744	-0.261619	0.05791	.	.	ENSG00000180257	ENST00000357666;ENST00000444460	T;T	0.39592	1.07;1.07	1.79	-3.57	0.04612	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.19525	0.0469	L	0.35341	1.055	0.09310	N	0.999999	B	0.33477	0.413	B	0.25987	0.065	T	0.18461	-1.0336	9	0.19147	T	0.46	.	0.1785	0.00121	0.2537:0.2019:0.2752:0.2692	.	329	Q0VGE8	ZN816_HUMAN	S	329	ENSP00000350295:R329S;ENSP00000403266:R329S	ENSP00000350295:R329S	R	-	3	2	ZNF816	58145853	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-4.375000	0.00244	-1.161000	0.02800	0.172000	0.16884	AGA		0.423	ZNF816-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396132.1	NM_001031665		53	159	0	0	0	0.00361	0	53	159				
ZNF845	91664	broad.mit.edu	37	19	53855101	53855101	+	Silent	SNP	C	C	G			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr19:53855101C>G	ENST00000595091.1	+	5	1392	c.1173C>G	c.(1171-1173)acC>acG	p.T391T	ZNF845_ENST00000458035.1_Silent_p.T391T			Q96IR2	ZN845_HUMAN	zinc finger protein 845	391					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.T391T(1)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						GCAGCAGGACCTTTAGTCGGA	0.393																																							uc010ydv.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(1171-1173)ACC>ACG		zinc finger protein 845							53.0	50.0	51.0					19																	53855101		692	1591	2283	SO:0001819	synonymous_variant	91664				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53855101C>G	BC007307	CCDS46170.1	19q13.42	2013-01-08			ENSG00000213799	ENSG00000213799		"""Zinc fingers, C2H2-type"", ""-"""	25112	protein-coding gene	gene with protein product							Standard	NM_138374		Approved		uc010ydv.1	Q96IR2		ENST00000595091.1:c.1173C>G	19.37:g.53855101C>G						ZNF845_uc010ydw.1_Silent_p.T391T	p.T391T	NM_138374	NP_612383	Q96IR2	ZN845_HUMAN			4	1290	+			391			C2H2-type 7.			Silent	SNP	ENST00000595091.1	37	c.1173C>G	CCDS46170.1																																																																																				0.393	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1	XM_039908		42	58	0	0	0	0.00361	0	42	58				
ZNF761	388561	broad.mit.edu	37	19	53952873	53952873	+	RNA	SNP	A	A	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr19:53952873A>T	ENST00000454407.1	+	0	577							Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		GGAGAATTATAGGAACCTGGT	0.473																																							uc010eqp.2		NA																	0				ovary(1)	1						c.(124-126)AGG>TGG		zinc finger protein 761							35.0	42.0	40.0					19																	53952873		875	1981	2856			388561				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53952873A>T	AB107355		19q13.42	2007-10-05	2006-08-11	2006-08-11	ENSG00000160336	ENSG00000160336		"""Zinc fingers, C2H2-type"""	23179	protein-coding gene	gene with protein product							Standard	NM_001008401		Approved	KIAA2033, FLJ16231, FLJ35333	uc010eqp.3	Q86XN6	OTTHUMG00000156999		19.37:g.53952873A>T						ZNF761_uc002qbr.2_RNA|ZNF761_uc010ydy.1_5'UTR|ZNF761_uc002qbs.2_RNA|ZNF761_uc002qbt.1_5'Flank	p.R42W	NM_001008401	NP_001008401	Q86XN6	ZN761_HUMAN		GBM - Glioblastoma multiforme(134;0.00786)	5	582	+			42			KRAB.		Q6ZNB9	Missense_Mutation	SNP	ENST00000454407.1	37	c.124A>T																																																																																					0.473	ZNF761-203	KNOWN	basic	processed_transcript	processed_transcript		NM_001008401		12	41	0	0	0	0.00245	0	12	41				
PRKCG	5582	broad.mit.edu	37	19	54401818	54401818	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr19:54401818G>T	ENST00000263431.3	+	11	1499	c.1217G>T	c.(1216-1218)gGg>gTg	p.G406V	PRKCG_ENST00000542049.1_Missense_Mutation_p.G293V|PRKCG_ENST00000540413.1_Missense_Mutation_p.G406V	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	406	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cell death (GO:0008219)|chemosensory behavior (GO:0007635)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein ubiquitination (GO:0031397)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|positive regulation of mismatch repair (GO:0032425)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to morphine (GO:0043278)|response to pain (GO:0048265)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic membrane (GO:0097060)	ATP binding (GO:0005524)|calcium-dependent protein kinase C activity (GO:0004698)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|zinc ion binding (GO:0008270)	p.G406V(1)		large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)	Tamoxifen(DB00675)	CTGGCGCTGGGGGGCCGGGGT	0.647																																							uc002qcq.1		NA																	1	Substitution - Missense(1)		lung(1)	lung(4)|ovary(2)|pancreas(2)|large_intestine(1)	9						c.(1216-1218)GGG>GTG		protein kinase C, gamma							24.0	23.0	23.0					19																	54401818		2203	4300	6503	SO:0001583	missense	5582				activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding	g.chr19:54401818G>T	M13977	CCDS12867.1	19q13.4	2014-09-17			ENSG00000126583	ENSG00000126583	2.7.11.1		9402	protein-coding gene	gene with protein product	"""PKC-gamma"""	176980		PKCG, SCA14		8432525, 3755548	Standard	NM_002739		Approved	PKCC, MGC57564	uc002qcq.1	P05129	OTTHUMG00000064846	ENST00000263431.3:c.1217G>T	19.37:g.54401818G>T	ENSP00000263431:p.Gly406Val					PRKCG_uc010yef.1_3'UTR|PRKCG_uc010yeg.1_Missense_Mutation_p.G406V|PRKCG_uc010yeh.1_Missense_Mutation_p.G293V	p.G406V	NM_002739	NP_002730	P05129	KPCG_HUMAN		GBM - Glioblastoma multiforme(134;0.0521)	11	1499	+	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)		406			Protein kinase.		B7Z8Q0	Missense_Mutation	SNP	ENST00000263431.3	37	c.1217G>T	CCDS12867.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.490773	0.84962	.	.	ENSG00000126583	ENST00000540413;ENST00000263431;ENST00000542049	T;T;T	0.62498	0.02;0.02;0.02	5.18	5.18	0.71444	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.58366	0.2117	N	0.02960	-0.455	0.80722	D	1	D;D;B	0.89917	1.0;1.0;0.213	D;D;B	0.91635	0.999;0.998;0.262	T	0.69423	-0.5149	9	0.56958	D	0.05	.	14.578	0.68265	0.0:0.0:1.0:0.0	.	293;406;406	B7Z8Q0;F5H5C4;P05129	.;.;KPCG_HUMAN	V	406;406;293	ENSP00000443493:G406V;ENSP00000263431:G406V;ENSP00000438090:G293V	ENSP00000263431:G406V	G	+	2	0	PRKCG	59093630	0.000000	0.05858	0.999000	0.59377	0.983000	0.72400	0.875000	0.28079	2.599000	0.87857	0.561000	0.74099	GGG		0.647	PRKCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139233.3	NM_002739		12	14	1	0	5.16669e-11	0.000978	7.42666e-11	12	14				
LILRB5	10990	broad.mit.edu	37	19	54758731	54758731	+	Nonsense_Mutation	SNP	A	A	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr19:54758731A>T	ENST00000316219.5	-	6	1229	c.1122T>A	c.(1120-1122)taT>taA	p.Y374*	LILRB5_ENST00000450632.1_Nonsense_Mutation_p.Y365*|LILRB5_ENST00000345866.6_Nonsense_Mutation_p.Y274*|LILRB5_ENST00000449561.2_Nonsense_Mutation_p.Y374*	NM_001081442.1|NM_006840.3	NP_001074911.1|NP_006831.1	O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	374	Ig-like C2-type 4.				cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)	integral component of membrane (GO:0016021)	transmembrane signaling receptor activity (GO:0004888)	p.Y374*(1)|p.Y365Y(1)|p.Y365*(1)|p.Y374Y(1)		NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CCTGGTGTCTATAAGACTGGT	0.537																																							uc002qex.2		NA																	4	Substitution - Nonsense(2)|Substitution - coding silent(2)		lung(4)	ovary(1)|pancreas(1)	2						c.(1120-1122)TAT>TAA		leukocyte immunoglobulin-like receptor,							97.0	89.0	92.0					19																	54758731		2203	4300	6503	SO:0001587	stop_gained	10990				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity	g.chr19:54758731A>T	AF025534	CCDS12885.1, CCDS42611.1, CCDS46176.1	19q13.4	2013-01-11			ENSG00000105609	ENSG00000105609		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6609	protein-coding gene	gene with protein product		604814				9548455	Standard	NM_006840		Approved	LIR-8, LIR8, CD85c	uc002qey.3	O75023	OTTHUMG00000066636	ENST00000316219.5:c.1122T>A	19.37:g.54758731A>T	ENSP00000320390:p.Tyr374*					LILRA6_uc002qew.1_Intron|LILRB5_uc010yer.1_Nonsense_Mutation_p.Y365*|LILRB5_uc002qey.2_Nonsense_Mutation_p.Y374*|LILRB5_uc002qez.2_Nonsense_Mutation_p.Y274*|LILRB5_uc002qfa.1_Nonsense_Mutation_p.Y264*|LILRB5_uc010yes.1_RNA	p.Y374*	NM_006840	NP_006831	O75023	LIRB5_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	6	1233	-	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)		374			Ig-like C2-type 4.|Extracellular (Potential).		Q8N760	Nonsense_Mutation	SNP	ENST00000316219.5	37	c.1122T>A	CCDS12885.1	.	.	.	.	.	.	.	.	.	.	A	16.53	3.148310	0.57151	.	.	ENSG00000105609	ENST00000316219;ENST00000450632;ENST00000449561;ENST00000345866	.	.	.	3.08	-0.371	0.12525	.	6.542450	0.00481	N	0.000122	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	2.6171	0.04907	0.2407:0.4866:0.0:0.2727	.	.	.	.	X	374;365;374;274	.	ENSP00000320390:Y374X	Y	-	3	2	LILRB5	59450543	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.925000	0.03992	0.007000	0.14760	-1.339000	0.01253	TAT		0.537	LILRB5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142877.2			28	36	0	0	0	0.002096	0	28	36				
PPP6R1	22870	broad.mit.edu	37	19	55748126	55748126	+	Nonsense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr19:55748126C>A	ENST00000412770.2	-	17	2439	c.1873G>T	c.(1873-1875)Gaa>Taa	p.E625*	AC010327.1_ENST00000581390.1_RNA|PPP6R1_ENST00000587283.1_Nonsense_Mutation_p.E625*	NM_014931.3	NP_055746.3	Q9UPN7	PP6R1_HUMAN	protein phosphatase 6, regulatory subunit 1	625	Glu-rich.|Poly-Glu.				regulation of phosphoprotein phosphatase activity (GO:0043666)	cytoplasm (GO:0005737)	protein phosphatase binding (GO:0019903)	p.E625*(1)		breast(1)	1						TCCTCCTCTTCCTCATCATCA	0.632																																							uc002qjw.3		NA																	1	Substitution - Nonsense(1)		lung(1)		0						c.(1873-1875)GAA>TAA		SAPS domain family, member 1							80.0	82.0	81.0					19																	55748126		2040	4180	6220	SO:0001587	stop_gained	22870				regulation of phosphoprotein phosphatase activity	cytoplasm	protein phosphatase binding	g.chr19:55748126C>A	AB029038	CCDS46186.1	19q13.42	2012-04-17	2010-06-28	2010-06-28	ENSG00000105063	ENSG00000105063		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"""	29195	protein-coding gene	gene with protein product		610875	"""KIAA1115"", ""SAPS domain family, member 1"""	KIAA1115, SAPS1		16769727	Standard	NM_014931		Approved	SAP190	uc002qjw.4	Q9UPN7		ENST00000412770.2:c.1873G>T	19.37:g.55748126C>A	ENSP00000414202:p.Glu625*					SAPS1_uc002qjv.2_Nonsense_Mutation_p.E687*	p.E625*	NM_014931	NP_055746	Q9UPN7	PP6R1_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)	17	2115	-		Renal(1328;0.245)	625			Glu-rich.|Poly-Glu.		Q2M2H3|Q504V2|Q6NVJ6|Q9BU97	Nonsense_Mutation	SNP	ENST00000412770.2	37	c.1873G>T	CCDS46186.1	.	.	.	.	.	.	.	.	.	.	C	41	8.806839	0.98960	.	.	ENSG00000105063	ENST00000412770	.	.	.	5.21	5.21	0.72293	.	0.291187	0.27932	N	0.017267	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	-12.2003	16.6185	0.84922	0.0:1.0:0.0:0.0	.	.	.	.	X	625	.	ENSP00000414202:E625X	E	-	1	0	PPP6R1	60439938	0.999000	0.42202	0.990000	0.47175	0.918000	0.54935	4.380000	0.59581	2.589000	0.87451	0.563000	0.77884	GAA		0.632	PPP6R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452663.1	NM_014931		17	50	1	0	1.02788e-11	0.00499	1.50717e-11	17	50				
NLRP13	126204	broad.mit.edu	37	19	56424392	56424392	+	Missense_Mutation	SNP	T	T	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr19:56424392T>A	ENST00000342929.3	-	5	790	c.791A>T	c.(790-792)tAt>tTt	p.Y264F	NLRP13_ENST00000588751.1_Missense_Mutation_p.Y264F	NM_176810.2	NP_789780.2	Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	264	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.						ATP binding (GO:0005524)	p.Y264F(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		ATAGAAAACATAGGAGAACCT	0.463																																							uc010ygg.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(4)|ovary(3)|pancreas(1)|lung(1)	9						c.(790-792)TAT>TTT		NACHT, leucine rich repeat and PYD containing							66.0	71.0	69.0					19																	56424392		2203	4300	6503	SO:0001583	missense	126204						ATP binding	g.chr19:56424392T>A	AY154468	CCDS33119.1	19q13.43	2008-02-05	2006-12-08	2006-12-08	ENSG00000173572	ENSG00000173572		"""Nucleotide-binding domain and leucine rich repeat containing"""	22937	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 13"""	609660	"""NACHT, leucine rich repeat and PYD containing 13"""	NALP13		12563287	Standard	NM_176810		Approved	NOD14, PAN13, CLR19.7	uc010ygg.2	Q86W25	OTTHUMG00000167839	ENST00000342929.3:c.791A>T	19.37:g.56424392T>A	ENSP00000343891:p.Tyr264Phe						p.Y264F	NM_176810	NP_789780	Q86W25	NAL13_HUMAN		GBM - Glioblastoma multiforme(193;0.0642)	5	816	-		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)	264			NACHT.		Q7RTR5	Missense_Mutation	SNP	ENST00000342929.3	37	c.791A>T	CCDS33119.1	.	.	.	.	.	.	.	.	.	.	T	13.68	2.309301	0.40895	.	.	ENSG00000173572	ENST00000342929	T	0.77098	-1.07	2.81	1.68	0.24146	NACHT nucleoside triphosphatase (1);	.	.	.	.	T	0.72293	0.3442	L	0.44542	1.39	0.09310	N	1	P	0.40282	0.711	P	0.46172	0.506	T	0.60826	-0.7186	9	0.46703	T	0.11	.	5.1034	0.14772	0.2633:0.0:0.0:0.7366	.	264	Q86W25	NAL13_HUMAN	F	264	ENSP00000343891:Y264F	ENSP00000343891:Y264F	Y	-	2	0	NLRP13	61116204	0.376000	0.25098	0.011000	0.14972	0.002000	0.02628	0.345000	0.19979	0.240000	0.21263	0.482000	0.46254	TAT		0.463	NLRP13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396560.1	NM_176810		14	92	0	0	0	0.00245	0	14	92				
ZNF583	147949	broad.mit.edu	37	19	56934258	56934258	+	Splice_Site	SNP	A	A	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr19:56934258A>T	ENST00000333201.9	+	5	442		c.e5-1		ZNF583_ENST00000291598.7_Splice_Site	NM_001159861.1|NM_152478.2	NP_001153333.1|NP_689691.2	Q96ND8	ZN583_HUMAN	zinc finger protein 583						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.?(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0564)		GATATCTTTTAGATTGGGAGT	0.284																																							uc010ygl.1		NA																	1	Unknown(1)		lung(1)	ovary(1)	1						c.e5-2		zinc finger protein 583							32.0	33.0	33.0					19																	56934258		2203	4295	6498	SO:0001630	splice_region_variant	147949				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:56934258A>T	AK055592	CCDS12943.1	19q13.43	2013-09-20			ENSG00000198440	ENSG00000198440		"""Zinc fingers, C2H2-type"", ""-"""	26427	protein-coding gene	gene with protein product							Standard	NM_152478		Approved	FLJ31030	uc010ygl.1	Q96ND8	OTTHUMG00000168874	ENST00000333201.9:c.233-1A>T	19.37:g.56934258A>T						ZNF583_uc002qnc.2_Splice_Site_p.D78_splice|ZNF583_uc010ygm.1_Splice_Site_p.D78_splice	p.D78_splice	NM_001159860	NP_001153332	Q96ND8	ZN583_HUMAN		GBM - Glioblastoma multiforme(193;0.0564)	5	398	+		Colorectal(82;0.000256)|Ovarian(87;0.243)						O14850|Q2NKK3	Splice_Site	SNP	ENST00000333201.9	37	c.233_splice	CCDS12943.1	.	.	.	.	.	.	.	.	.	.	A	12.96	2.093654	0.36952	.	.	ENSG00000198440	ENST00000537943;ENST00000291598;ENST00000333201;ENST00000391778	.	.	.	4.01	4.01	0.46588	.	.	.	.	.	.	.	.	.	.	.	0.28961	N	0.889804	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.6132	0.39676	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ZNF583	61626070	0.845000	0.29573	0.243000	0.24186	0.471000	0.32888	3.410000	0.52664	2.052000	0.61016	0.379000	0.24179	.		0.284	ZNF583-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401453.1	NM_152478	Intron	9	32	0	0	0	0.004482	0	9	32				
USP29	57663	broad.mit.edu	37	19	57640595	57640595	+	Silent	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr19:57640595G>T	ENST00000254181.4	+	4	1006	c.552G>T	c.(550-552)ctG>ctT	p.L184L	USP29_ENST00000598197.1_Silent_p.L184L	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	184					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)	p.L184L(1)		breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AGGACATTCTGAAGGAAGATA	0.358																																							uc002qny.2		NA																	1	Substitution - coding silent(1)		lung(1)	lung(6)|ovary(2)|breast(2)|pancreas(1)	11						c.(550-552)CTG>CTT		ubiquitin specific peptidase 29							96.0	99.0	98.0					19																	57640595		2203	4300	6503	SO:0001819	synonymous_variant	57663				protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	g.chr19:57640595G>T		CCDS33124.1	19q13.4	2008-06-23	2005-08-08			ENSG00000131864		"""Ubiquitin-specific peptidases"""	18563	protein-coding gene	gene with protein product		609546	"""ubiquitin specific protease 29"""			12838346	Standard	NM_020903		Approved		uc002qny.3	Q9HBJ7		ENST00000254181.4:c.552G>T	19.37:g.57640595G>T							p.L184L	NM_020903	NP_065954	Q9HBJ7	UBP29_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	4	908	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)	184						Silent	SNP	ENST00000254181.4	37	c.552G>T	CCDS33124.1																																																																																				0.358	USP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465075.1			33	94	1	0	6.05902e-23	0.003755	1.08447e-22	33	94				
ZNF606	80095	broad.mit.edu	37	19	58490843	58490843	+	Missense_Mutation	SNP	T	T	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr19:58490843T>A	ENST00000341164.4	-	7	1825	c.1205A>T	c.(1204-1206)tAc>tTc	p.Y402F	ZNF606_ENST00000536132.1_Missense_Mutation_p.Y312F	NM_025027.3	NP_079303.2	Q8WXB4	ZN606_HUMAN	zinc finger protein 606	402					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Y402F(2)		NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		ACATTCATTGTAGTCATAGGG	0.373																																							uc002qqw.2		NA																	2	Substitution - Missense(2)		lung(2)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(1204-1206)TAC>TTC		zinc finger protein 606							89.0	83.0	85.0					19																	58490843		2203	4300	6503	SO:0001583	missense	80095				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58490843T>A	AB058755	CCDS12968.1	19q13.43	2013-01-08			ENSG00000166704	ENSG00000166704		"""Zinc fingers, C2H2-type"", ""-"""	25879	protein-coding gene	gene with protein product		613905		ZNF328		11347906	Standard	XM_005259276		Approved	FLJ14260, KIAA1852	uc002qqw.3	Q8WXB4	OTTHUMG00000169804	ENST00000341164.4:c.1205A>T	19.37:g.58490843T>A	ENSP00000343617:p.Tyr402Phe					ZNF606_uc010yhp.1_Missense_Mutation_p.Y312F	p.Y402F	NM_025027	NP_079303	Q8WXB4	ZN606_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)	7	1823	-		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	402			C2H2-type 3; degenerate.		A8KAN2|Q8NE04|Q96JH5	Missense_Mutation	SNP	ENST00000341164.4	37	c.1205A>T	CCDS12968.1	.	.	.	.	.	.	.	.	.	.	T	9.846	1.192264	0.21954	.	.	ENSG00000166704	ENST00000341164;ENST00000536132;ENST00000551380	T;T;T	0.15372	2.43;2.43;2.43	4.6	2.46	0.29980	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.174209	0.28021	N	0.016903	T	0.10294	0.0252	L	0.33339	1.005	0.18873	N	0.999985	B	0.06786	0.001	B	0.04013	0.001	T	0.20538	-1.0272	10	0.51188	T	0.08	.	1.9685	0.03401	0.2503:0.2345:0.0:0.5152	.	402	Q8WXB4	ZN606_HUMAN	F	402;312;402	ENSP00000343617:Y402F;ENSP00000445624:Y312F;ENSP00000446972:Y402F	ENSP00000343617:Y402F	Y	-	2	0	ZNF606	63182655	0.656000	0.27385	0.939000	0.37840	0.721000	0.41392	1.488000	0.35551	0.865000	0.35603	0.529000	0.55759	TAC		0.373	ZNF606-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405961.1	NM_025027		49	53	0	0	0	0.00361	0	49	53				
ZNF135	7694	broad.mit.edu	37	19	58572990	58572990	+	Nonsense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr19:58572990G>T	ENST00000313434.5	+	3	177	c.76G>T	c.(76-78)Gag>Tag	p.E26*	ZNF135_ENST00000359978.6_Nonsense_Mutation_p.E38*|ZNF135_ENST00000439855.2_Nonsense_Mutation_p.E26*|ZNF135_ENST00000401053.4_Nonsense_Mutation_p.E38*|ZNF135_ENST00000511556.1_Nonsense_Mutation_p.E26*|ZNF135_ENST00000506786.1_5'UTR	NM_003436.3	NP_003427.3	P52742	ZN135_HUMAN	zinc finger protein 135	26	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E38*(1)|p.E26*(1)		breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		CTTCAGCCAGGAGGAGTGGGG	0.592																																							uc010yhq.1		NA																	2	Substitution - Nonsense(2)		lung(2)	ovary(1)	1						c.(76-78)GAG>TAG		zinc finger protein 135 isoform 2							148.0	133.0	138.0					19																	58572990		2203	4300	6503	SO:0001587	stop_gained	7694				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:58572990G>T	U09413	CCDS12970.1, CCDS12970.2, CCDS54329.1, CCDS54330.1, CCDS74471.1, CCDS74472.1	19q13.4	2013-01-08	2006-05-12			ENSG00000176293		"""Zinc fingers, C2H2-type"", ""-"""	12919	protein-coding gene	gene with protein product		604077	"""zinc finger protein 61"", ""zinc finger protein 135 (clone pHZ-17)"""	ZNF61, ZNF78L1		7557990, 1505991	Standard	NM_003436		Approved	pHZ-17	uc002qrg.3	P52742		ENST00000313434.5:c.76G>T	19.37:g.58572990G>T	ENSP00000321406:p.Glu26*					ZNF135_uc002qre.2_Nonsense_Mutation_p.E26*|ZNF135_uc002qrd.1_5'UTR|ZNF135_uc002qrf.2_5'UTR|ZNF135_uc002qrg.2_5'UTR|ZNF135_uc010yhr.1_Intron	p.E26*	NM_003436	NP_003427	B4DHH9	B4DHH9_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)	3	172	+		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)	26					B4DHH9|E9PEV2|F5GYY9|I3L0B3|Q5U5L3|Q8N1I7	Nonsense_Mutation	SNP	ENST00000313434.5	37	c.76G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.16|19.16	3.774266|3.774266	0.69992|0.69992	.|.	.|.	ENSG00000176293|ENSG00000176293	ENST00000504540;ENST00000401053;ENST00000359978;ENST00000439855;ENST00000313434;ENST00000511556|ENST00000391699	.|.	.|.	.|.	2.52|2.52	2.52|2.52	0.30459|0.30459	.|.	.|.	.|.	.|.	.|.	.|T	.|0.52533	.|0.1740	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.62586	.|-0.6823	.|3	0.59425|.	D|.	0.04|.	.|.	11.1948|11.1948	0.48707|0.48707	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|S	38;38;38;26;26;26|31	.|.	ENSP00000321406:E26X|.	E|R	+|+	1|3	0|2	ZNF135|ZNF135	63264802|63264802	0.993000|0.993000	0.37304|0.37304	0.997000|0.997000	0.53966|0.53966	0.611000|0.611000	0.37282|0.37282	1.933000|1.933000	0.40153|0.40153	1.760000|1.760000	0.52011|0.52011	0.467000|0.467000	0.42956|0.42956	GAG|AGG		0.592	ZNF135-003	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000361899.2	NM_003436		34	51	1	0	1.45844e-13	0.002836	2.2756e-13	34	51				
ZNF274	10782	broad.mit.edu	37	19	58724291	58724291	+	Silent	SNP	C	C	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr19:58724291C>T	ENST00000326804.4	+	9	2200	c.1741C>T	c.(1741-1743)Ctg>Ttg	p.L581L	ZNF274_ENST00000597818.1_3'UTR|ZNF274_ENST00000345813.3_Silent_p.L549L|ZNF274_ENST00000424679.2_Silent_p.L476L	NM_001278734.1|NM_133502.1	NP_001265663.1|NP_598009.1	Q96GC6	ZN274_HUMAN	zinc finger protein 274	582					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.L549L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)|skin(1)	21		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215)		CTCCCAGCACCTGAGGACTCA	0.542																																							uc002qrq.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1744-1746)CTG>TTG		zinc finger protein 274 isoform c							68.0	75.0	73.0					19																	58724291		2110	4247	6357	SO:0001819	synonymous_variant	10782				viral reproduction	centrosome|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr19:58724291C>T	AB029149	CCDS74473.1, CCDS74474.1, CCDS74475.1, CCDS74476.1	19q13.43	2013-01-09				ENSG00000171606		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13068	protein-coding gene	gene with protein product		605467				10777669	Standard	NM_133502		Approved	ZKSCAN19, ZSCAN51	uc002qrs.1	Q96GC6		ENST00000326804.4:c.1741C>T	19.37:g.58724291C>T						ZNF274_uc002qrr.1_Silent_p.L550L|ZNF274_uc002qrs.1_Silent_p.L477L|ZNF274_uc010eum.1_Silent_p.L341L	p.L582L	NM_133502	NP_598009	Q96GC6	ZN274_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215)	10	2203	+		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157)	582			C2H2-type 3.		Q53XU4|Q6MZG1|Q8WY37|Q8WY38|Q92969|Q9UII0|Q9UII1	Silent	SNP	ENST00000326804.4	37	c.1744C>T																																																																																					0.542	ZNF274-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_133502		15	76	0	0	0	0.00245	0	15	76				
A1BG	1	broad.mit.edu	37	19	58864391	58864391	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr19:58864391G>C	ENST00000263100.3	-	3	304	c.243C>G	c.(241-243)ttC>ttG	p.F81L	A1BG-AS1_ENST00000600686.1_RNA|A1BG-AS1_ENST00000594950.1_RNA|A1BG-AS1_ENST00000600379.1_RNA|CTD-2619J13.8_ENST00000599109.1_RNA|A1BG-AS1_ENST00000599728.1_RNA|A1BG-AS1_ENST00000593374.1_RNA|A1BG-AS1_ENST00000593960.1_RNA|A1BG-AS1_ENST00000595302.1_RNA	NM_130786.3	NP_570602.2	P04217	A1BG_HUMAN	alpha-1-B glycoprotein	81	Ig-like V-type 1.					blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.F81L(1)		NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|prostate(2)	15		all_cancers(17;3.04e-16)|all_epithelial(17;7.77e-12)|Lung NSC(17;3.25e-05)|Colorectal(82;5.46e-05)|all_lung(17;0.000129)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(17;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0269)		CCGTCAGCAGGAACTGGTGCT	0.637																																							uc002qsd.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(241-243)TTC>TTG		alpha 1B-glycoprotein precursor							66.0	68.0	67.0					19																	58864391		2203	4300	6503	SO:0001583	missense	1					extracellular region		g.chr19:58864391G>C		CCDS12976.1	19q13.43	2013-10-15			ENSG00000121410	ENSG00000121410		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5	protein-coding gene	gene with protein product		138670				2591067	Standard	NM_130786		Approved		uc002qsd.4	P04217	OTTHUMG00000183507	ENST00000263100.3:c.243C>G	19.37:g.58864391G>C	ENSP00000263100:p.Phe81Leu					NCRNA00181_uc002qse.2_Intron|A1BG_uc002qsf.1_RNA|NCRNA00181_uc002qsg.2_RNA	p.F81L	NM_130786	NP_570602	P04217	A1BG_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0269)	3	305	-		all_cancers(17;3.04e-16)|all_epithelial(17;7.77e-12)|Lung NSC(17;3.25e-05)|Colorectal(82;5.46e-05)|all_lung(17;0.000129)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(17;0.157)	81			Ig-like V-type 1.		A8K052|Q68CK0|Q8IYJ6|Q96P39	Missense_Mutation	SNP	ENST00000263100.3	37	c.243C>G	CCDS12976.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.171033	0.78452	.	.	ENSG00000121410	ENST00000263100	T	0.00642	6.02	3.52	-0.915	0.10494	Immunoglobulin-like fold (1);	0.000000	0.42821	D	0.000648	T	0.02533	0.0077	M	0.85630	2.765	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.26643	-1.0097	10	0.48119	T	0.1	.	5.9403	0.19189	0.5053:0.0:0.4947:0.0	.	81	P04217	A1BG_HUMAN	L	81	ENSP00000263100:F81L	ENSP00000263100:F81L	F	-	3	2	A1BG	63556203	0.000000	0.05858	0.002000	0.10522	0.819000	0.46315	-0.249000	0.08842	-0.081000	0.12662	-0.251000	0.11542	TTC		0.637	A1BG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466930.1	NM_130786		11	63	0	0	0	0.001855	0	11	63				
MYCN	4613	broad.mit.edu	37	2	16085778	16085778	+	Silent	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr2:16085778G>T	ENST00000281043.3	+	3	1251	c.954G>T	c.(952-954)ctG>ctT	p.L318L		NM_005378.4	NP_005369.2	P04198	MYCN_HUMAN	v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog	318					branching morphogenesis of an epithelial tube (GO:0048754)|cartilage condensation (GO:0001502)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|lung development (GO:0030324)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|positive regulation of cell death (GO:0010942)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	chromatin (GO:0000785)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L318L(1)		NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	31	all_cancers(1;1.35e-08)|all_neural(1;2.92e-24)|Lung SC(1;3.26e-07)|Medulloblastoma(1;6.9e-06)|all_lung(1;1.26e-05)|Glioma(3;0.135)|Acute lymphoblastic leukemia(172;0.155)|all_epithelial(1;0.169)|all_hematologic(175;0.197)		GBM - Glioblastoma multiforme(3;0.000332)			CCAGCGAGCTGATCCTCAAAC	0.592			A		neuroblastoma																																		uc002rci.2		NA		Dom	yes		2	2p24.1	4613	A	"""v-myc myelocytomatosis viral related oncogene, neuroblastoma derived (avian)"""			O			neuroblastoma		1	Substitution - coding silent(1)		lung(1)	central_nervous_system(2)|ovary(1)|lung(1)|skin(1)	5						c.(952-954)CTG>CTT		v-myc myelocytomatosis viral related oncogene,							87.0	73.0	77.0					2																	16085778		2203	4300	6503	SO:0001819	synonymous_variant	4613				regulation of transcription from RNA polymerase II promoter	chromatin|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr2:16085778G>T	BC002712	CCDS1687.1	2p24.3	2013-08-14	2013-07-09		ENSG00000134323	ENSG00000134323		"""Basic helix-loop-helix proteins"""	7559	protein-coding gene	gene with protein product		164840		NMYC			Standard	XM_006711886		Approved	bHLHe37, N-myc, MYCNOT	uc002rci.3	P04198	OTTHUMG00000039579	ENST00000281043.3:c.954G>T	2.37:g.16085778G>T						MYCN_uc010yjr.1_Silent_p.L310L	p.L318L	NM_005378	NP_005369	P04198	MYCN_HUMAN	GBM - Glioblastoma multiforme(3;0.000332)		3	1254	+	all_cancers(1;1.35e-08)|all_neural(1;2.92e-24)|Lung SC(1;3.26e-07)|Medulloblastoma(1;6.9e-06)|all_lung(1;1.26e-05)|Glioma(3;0.135)|Acute lymphoblastic leukemia(172;0.155)|all_epithelial(1;0.169)|all_hematologic(175;0.197)		318					Q53XS5|Q6LDT9	Silent	SNP	ENST00000281043.3	37	c.954G>T	CCDS1687.1																																																																																				0.592	MYCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095469.2	NM_005378		10	15	1	0	3.07112e-06	0.000978	3.68823e-06	10	15				
VSNL1	7447	broad.mit.edu	37	2	17830709	17830709	+	Silent	SNP	C	C	A	rs188834016		TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr2:17830709C>A	ENST00000406397.1	+	3	720	c.195C>A	c.(193-195)gcC>gcA	p.A65A	VSNL1_ENST00000404666.2_Silent_p.A65A|VSNL1_ENST00000295156.4_Silent_p.A65A			P62760	VISL1_HUMAN	visinin-like 1	65	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.		A -> G (in dbSNP:rs1042674). {ECO:0000269|PubMed:8530085}.		calcium-mediated signaling (GO:0019722)		calcium ion binding (GO:0005509)	p.A65A(1)		NS(1)|breast(1)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CCAAGTTTGCCCAGCATGCCT	0.572																																							uc002rcm.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(193-195)GCC>GCA		visinin-like 1							139.0	135.0	136.0					2																	17830709		2203	4300	6503	SO:0001819	synonymous_variant	7447						calcium ion binding	g.chr2:17830709C>A		CCDS1689.1	2p24.3	2013-01-10			ENSG00000163032	ENSG00000163032		"""EF-hand domain containing"""	12722	protein-coding gene	gene with protein product	"""hippocalcin-like protein 3"""	600817				8530085, 2202488	Standard	NM_003385		Approved	VILIP, HPCAL3, HUVISL1, HLP3, VILIP-1	uc002rcm.3	P62760	OTTHUMG00000090645	ENST00000406397.1:c.195C>A	2.37:g.17830709C>A							p.A65A	NM_003385	NP_003376	P62760	VISL1_HUMAN			3	579	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)		65			EF-hand 2.		D6W515|P28677|P29103|P42323|Q9UM20	Silent	SNP	ENST00000406397.1	37	c.195C>A	CCDS1689.1																																																																																				0.572	VSNL1-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323803.1	NM_003385		25	91	1	0	7.26314e-15	0.007291	1.1653e-14	25	91				
APOB	338	broad.mit.edu	37	2	21235326	21235326	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr2:21235326C>A	ENST00000233242.1	-	26	4541	c.4414G>T	c.(4414-4416)Gac>Tac	p.D1472Y		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	1472					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)	p.D1472Y(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTTTTGGAGTCCAAATGAACT	0.408																																							uc002red.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27						c.(4414-4416)GAC>TAC		apolipoprotein B precursor	Atorvastatin(DB01076)						124.0	123.0	123.0					2																	21235326		2203	4300	6503	SO:0001583	missense	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21235326C>A	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.4414G>T	2.37:g.21235326C>A	ENSP00000233242:p.Asp1472Tyr						p.D1472Y	NM_000384	NP_000375	P04114	APOB_HUMAN			26	4542	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1472					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.4414G>T	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	C	12.64	1.997450	0.35226	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.00760	5.73	5.62	3.81	0.43845	.	0.178646	0.38720	N	0.001590	T	0.01523	0.0049	M	0.63428	1.95	0.44302	D	0.997177	P	0.45902	0.868	P	0.45577	0.486	T	0.63585	-0.6604	10	0.72032	D	0.01	.	9.0366	0.36291	0.0:0.775:0.1474:0.0776	.	1472	P04114	APOB_HUMAN	Y	1472	ENSP00000233242:D1472Y	ENSP00000233242:D1472Y	D	-	1	0	APOB	21088831	0.996000	0.38824	0.566000	0.28421	0.300000	0.27592	2.997000	0.49457	0.717000	0.32145	-0.136000	0.14681	GAC		0.408	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			44	50	1	0	2.62258e-09	0.002522	3.54066e-09	44	50				
DNAJC27	51277	broad.mit.edu	37	2	25190085	25190085	+	Silent	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr2:25190085G>T	ENST00000264711.2	-	2	354	c.165C>A	c.(163-165)gtC>gtA	p.V55V	SNORD14_ENST00000365609.1_RNA|DNAJC27_ENST00000534855.1_5'UTR|DNAJC27_ENST00000468467.1_5'UTR	NM_001198559.1|NM_016544.2	NP_001185488.1|NP_057628.1	Q9NZQ0	DJC27_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 27	55					small GTPase mediated signal transduction (GO:0007264)	mitochondrion (GO:0005739)	GTP binding (GO:0005525)	p.V55V(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	13						CTTACTTTGTGACTCCATAGT	0.348																																							uc002rft.1		NA																	1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(163-165)GTC>GTA		DnaJ (Hsp40) homolog, subfamily C, member 27							89.0	93.0	92.0					2																	25190085		2202	4299	6501	SO:0001819	synonymous_variant	51277				protein folding|small GTPase mediated signal transduction		GTP binding|heat shock protein binding|unfolded protein binding	g.chr2:25190085G>T		CCDS1716.1, CCDS74493.1	2p23.3	2011-09-02	2008-08-20	2008-08-20	ENSG00000115137	ENSG00000115137		"""Heat shock proteins / DNAJ (HSP40)"""	30290	protein-coding gene	gene with protein product		613527	"""rab and DnaJ domain containing"""	RBJ		14980719	Standard	NM_016544		Approved	RabJS	uc002rft.2	Q9NZQ0	OTTHUMG00000125524	ENST00000264711.2:c.165C>A	2.37:g.25190085G>T						DNAJC27_uc010ykn.1_5'UTR|DNAJC27_uc002rfu.1_RNA|DNAJC27_uc010eyg.1_Silent_p.V55V	p.V55V	NM_016544	NP_057628	Q9NZQ0	DJC27_HUMAN			2	216	-			55					Q5JV88|Q86Y24	Silent	SNP	ENST00000264711.2	37	c.165C>A	CCDS1716.1																																																																																				0.348	DNAJC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246855.3	NM_016544		23	33	1	0	9.86323e-18	0.003954	1.67446e-17	23	33				
EHD3	30845	broad.mit.edu	37	2	31484546	31484546	+	Silent	SNP	A	A	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr2:31484546A>T	ENST00000322054.5	+	5	1332	c.1047A>T	c.(1045-1047)tcA>tcT	p.S349S	EHD3_ENST00000541626.1_Intron	NM_014600.2	NP_055415.1	Q9NZN3	EHD3_HUMAN	EH-domain containing 3	349					blood coagulation (GO:0007596)|endocytic recycling (GO:0032456)|protein homooligomerization (GO:0051260)|protein targeting to plasma membrane (GO:0072661)|regulation of cardiac muscle cell membrane potential (GO:0086036)	cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|nucleic acid binding (GO:0003676)	p.S349S(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33	Acute lymphoblastic leukemia(172;0.155)					ACCAGATCTCACCTGGGGACT	0.582																																							uc002rnu.2		NA																	1	Substitution - coding silent(1)		lung(1)	skin(2)	2						c.(1045-1047)TCA>TCT		EH-domain containing 3							104.0	102.0	102.0					2																	31484546		2203	4300	6503	SO:0001819	synonymous_variant	30845				blood coagulation|endocytic recycling|protein homooligomerization	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding	g.chr2:31484546A>T	AF181264	CCDS1774.1	2p21	2013-01-10			ENSG00000013016	ENSG00000013016		"""EF-hand domain containing"""	3244	protein-coding gene	gene with protein product		605891		PAST3		10673336	Standard	NM_014600		Approved		uc002rnu.3	Q9NZN3	OTTHUMG00000099365	ENST00000322054.5:c.1047A>T	2.37:g.31484546A>T						EHD3_uc010ymt.1_Intron	p.S349S	NM_014600	NP_055415	Q9NZN3	EHD3_HUMAN			5	1655	+	Acute lymphoblastic leukemia(172;0.155)		349					B4DFR5|D6W574|Q8N514|Q9NZB3	Silent	SNP	ENST00000322054.5	37	c.1047A>T	CCDS1774.1																																																																																				0.582	EHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216810.1	NM_014600		21	85	0	0	0	0.00278	0	21	85				
BIRC6	57448	broad.mit.edu	37	2	32613998	32613998	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr2:32613998C>T	ENST00000421745.2	+	4	960	c.826C>T	c.(826-828)Cgt>Tgt	p.R276C		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	276					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)	p.R276C(1)|p.R248C(1)		NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					GGGGCCAGGCCGTTCTGTAGA	0.433																																					Pancreas(94;175 1509 16028 18060 45422)	Pancreas(94;175 1509 16028 18060 45422)	uc010ezu.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14						c.(826-828)CGT>TGT		baculoviral IAP repeat-containing 6							77.0	60.0	66.0					2																	32613998		2203	4300	6503	SO:0001583	missense	57448				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	g.chr2:32613998C>T	AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.826C>T	2.37:g.32613998C>T	ENSP00000393596:p.Arg276Cys						p.R276C	NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN			4	960	+	Acute lymphoblastic leukemia(172;0.155)		276					Q9ULD1	Missense_Mutation	SNP	ENST00000421745.2	37	c.826C>T	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	C	20.4	3.990170	0.74589	.	.	ENSG00000115760	ENST00000421745	T	0.75589	-0.95	5.75	5.75	0.90469	.	0.063889	0.64402	D	0.000005	T	0.79953	0.4535	N	0.22421	0.69	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.81254	-0.1016	10	0.56958	D	0.05	.	19.9498	0.97195	0.0:1.0:0.0:0.0	.	276	Q9NR09	BIRC6_HUMAN	C	276	ENSP00000393596:R276C	ENSP00000393596:R276C	R	+	1	0	BIRC6	32467502	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.770000	0.85390	2.715000	0.92844	0.650000	0.86243	CGT		0.433	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252		3	13	0	0	0	0.004672	0	3	13				
LTBP1	4052	broad.mit.edu	37	2	33484662	33484662	+	Silent	SNP	T	T	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr2:33484662T>A	ENST00000404816.2	+	13	2756	c.2403T>A	c.(2401-2403)acT>acA	p.T801T	LTBP1_ENST00000418533.2_Silent_p.T475T|LTBP1_ENST00000354476.3_Silent_p.T801T|LTBP1_ENST00000407925.1_Silent_p.T475T|LTBP1_ENST00000404525.1_Silent_p.T422T|LTBP1_ENST00000402934.1_Silent_p.T422T|LTBP1_ENST00000390003.4_Silent_p.T475T			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	801					extracellular matrix organization (GO:0030198)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)	p.T801T(1)		breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				TAGTGGCAACTGCACCCCCTG	0.294																																							uc002ros.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)	8						c.(2401-2403)ACT>ACA		latent transforming growth factor beta binding							107.0	110.0	109.0					2																	33484662		2202	4300	6502	SO:0001819	synonymous_variant	4052				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity	g.chr2:33484662T>A		CCDS33177.1, CCDS33178.1, CCDS33177.2, CCDS33178.2, CCDS54344.1, CCDS54345.1	2p22-p21	2008-05-23			ENSG00000049323	ENSG00000049323		"""Latent transforming growth factor, beta binding proteins"""	6714	protein-coding gene	gene with protein product	"""TGF-beta1-BP-1"""	150390				2350783, 11104663	Standard	NM_206943		Approved		uc021vft.1	Q14766	OTTHUMG00000152118	ENST00000404816.2:c.2403T>A	2.37:g.33484662T>A						LTBP1_uc002rot.2_Silent_p.T475T|LTBP1_uc002rou.2_Silent_p.T475T|LTBP1_uc002rov.2_Silent_p.T422T|LTBP1_uc010ymz.1_Silent_p.T475T|LTBP1_uc010yna.1_Silent_p.T422T	p.T801T	NM_206943	NP_996826	Q14766	LTBP1_HUMAN			13	2403	+	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)	801					A1L3V1|P22064|Q53SD8|Q53SF3|Q53SG1|Q59HF7|Q8TD95	Silent	SNP	ENST00000404816.2	37	c.2403T>A	CCDS33177.2																																																																																				0.294	LTBP1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326227.2	NM_206943		35	97	0	0	0	0.00874	0	35	97				
CRIM1	51232	broad.mit.edu	37	2	36669769	36669769	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr2:36669769G>T	ENST00000280527.2	+	4	1127	c.760G>T	c.(760-762)Gac>Tac	p.D254Y		NM_016441.2	NP_057525.1	Q9NZV1	CRIM1_HUMAN	cysteine rich transmembrane BMP regulator 1 (chordin-like)	254					insulin-like growth factor receptor signaling pathway (GO:0048009)|nervous system development (GO:0007399)|regulation of cell growth (GO:0001558)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	insulin-like growth factor-activated receptor activity (GO:0005010)|PDZ domain binding (GO:0030165)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.D254Y(1)		autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				TTTCGGCGTGGACTGCAGGAC	0.468																																							uc002rpd.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(760-762)GAC>TAC		cysteine-rich motor neuron 1 precursor							160.0	148.0	153.0					2																	36669769		2203	4300	6503	SO:0001583	missense	51232				nervous system development|regulation of cell growth	extracellular region|integral to membrane|plasma membrane	insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity	g.chr2:36669769G>T	AF168681	CCDS1783.1	2p21	2010-06-29	2005-07-25		ENSG00000150938	ENSG00000150938			2359	protein-coding gene	gene with protein product		606189	"""cysteine-rich motor neuron 1"""	S52		10642437	Standard	NM_016441		Approved		uc002rpd.3	Q9NZV1	OTTHUMG00000099419	ENST00000280527.2:c.760G>T	2.37:g.36669769G>T	ENSP00000280527:p.Asp254Tyr						p.D254Y	NM_016441	NP_057525	Q9NZV1	CRIM1_HUMAN			4	799	+		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)	254			Extracellular (Potential).		Q2M2G4|Q59GH0|Q7LCQ5|Q9H318	Missense_Mutation	SNP	ENST00000280527.2	37	c.760G>T	CCDS1783.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.162550	0.78226	.	.	ENSG00000150938	ENST00000280527;ENST00000426856	T	0.04970	3.52	5.24	5.24	0.73138	.	0.055301	0.64402	D	0.000001	T	0.19327	0.0464	L	0.44542	1.39	0.80722	D	1	D	0.76494	0.999	D	0.70716	0.97	T	0.00162	-1.1971	10	0.72032	D	0.01	-20.9164	18.1814	0.89779	0.0:0.0:1.0:0.0	.	254	Q9NZV1	CRIM1_HUMAN	Y	254;146	ENSP00000280527:D254Y	ENSP00000280527:D254Y	D	+	1	0	CRIM1	36523273	1.000000	0.71417	1.000000	0.80357	0.788000	0.44548	7.957000	0.87870	2.622000	0.88805	0.555000	0.69702	GAC		0.468	CRIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216878.2	NM_016441		53	80	1	0	2.5401e-28	0.00361	4.65229e-28	53	80				
THADA	63892	broad.mit.edu	37	2	43797577	43797577	+	Nonsense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr2:43797577C>A	ENST00000405006.4	-	14	2488	c.2137G>T	c.(2137-2139)Gag>Tag	p.E713*	THADA_ENST00000330266.7_Nonsense_Mutation_p.E423*|THADA_ENST00000405975.2_Nonsense_Mutation_p.E713*|THADA_ENST00000403856.1_Nonsense_Mutation_p.E713*|THADA_ENST00000402360.2_Nonsense_Mutation_p.E713*|THADA_ENST00000404790.1_Nonsense_Mutation_p.E713*|THADA_ENST00000415080.2_Nonsense_Mutation_p.E423*	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	713								p.E713*(1)		breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				AACTCATTCTCTGGTTCACGT	0.328																																							uc002rsw.3		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(2)|skin(1)	3						c.(2137-2139)GAG>TAG		thyroid adenoma associated							159.0	148.0	151.0					2																	43797577		1822	4092	5914	SO:0001587	stop_gained	63892						binding	g.chr2:43797577C>A	AY149629	CCDS46268.1, CCDS62901.1, CCDS62902.1	2p21	2008-02-05			ENSG00000115970	ENSG00000115970			19217	protein-coding gene	gene with protein product		611800				12063398, 11214970	Standard	NM_022065		Approved	FLJ21877, KIAA1767, GITA	uc002rsx.4	Q6YHU6	OTTHUMG00000152398	ENST00000405006.4:c.2137G>T	2.37:g.43797577C>A	ENSP00000385995:p.Glu713*					THADA_uc010far.2_5'UTR|THADA_uc002rsx.3_Nonsense_Mutation_p.E713*|THADA_uc002rsy.3_RNA|THADA_uc010fas.1_RNA|THADA_uc002rsz.2_Nonsense_Mutation_p.E423*|THADA_uc010fat.1_5'UTR|THADA_uc002rta.2_Nonsense_Mutation_p.E423*|THADA_uc002rtb.1_Nonsense_Mutation_p.E713*|THADA_uc002rtc.3_Nonsense_Mutation_p.E713*|THADA_uc002rtd.2_Nonsense_Mutation_p.E713*	p.E713*	NM_001083953	NP_001077422	Q6YHU6	THADA_HUMAN			14	2489	-		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)	713					A8K1V8|B7WNS6|Q3KR04|Q53RC6|Q53TB2|Q6YHU2|Q6ZU38|Q8IY32|Q8TAU8|Q96I88|Q9BZF7|Q9C096|Q9H6U0|Q9H6W7	Nonsense_Mutation	SNP	ENST00000405006.4	37	c.2137G>T	CCDS46268.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.70|18.70	3.680668|3.680668	0.68042|0.68042	.|.	.|.	ENSG00000115970|ENSG00000115970	ENST00000330266;ENST00000405975;ENST00000356975;ENST00000415080;ENST00000405006;ENST00000402360;ENST00000404790;ENST00000403856|ENST00000407351	.|.	.|.	.|.	5.41|5.41	3.58|3.58	0.41010|0.41010	.|.	0.695595|.	0.13672|.	N|.	0.370847|.	.|T	.|0.44265	.|0.1285	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.54105	.|-0.8343	.|3	0.05959|.	T|.	0.93|.	.|.	7.7224|7.7224	0.28740|0.28740	0.1221:0.6929:0.118:0.0669|0.1221:0.6929:0.118:0.0669	.|.	.|.	.|.	.|.	X|H	423;713;714;423;713;713;713;713|26	.|.	ENSP00000331105:E423X|.	E|Q	-|-	1|3	0|2	THADA|THADA	43651081|43651081	0.103000|0.103000	0.21917|0.21917	0.209000|0.209000	0.23619|0.23619	0.008000|0.008000	0.06430|0.06430	0.263000|0.263000	0.18478|0.18478	1.274000|1.274000	0.44362|0.44362	-0.226000|-0.226000	0.12346|0.12346	GAG|CAG		0.328	THADA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326070.3	NM_022065		27	33	1	0	1.42536e-11	0.004656	2.08102e-11	27	33				
EPAS1	2034	broad.mit.edu	37	2	46574200	46574200	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr2:46574200C>T	ENST00000263734.3	+	2	725	c.215C>T	c.(214-216)tCa>tTa	p.S72L	EPAS1_ENST00000467888.1_3'UTR	NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	72					angiogenesis (GO:0001525)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to hypoxia (GO:0071456)|embryonic placenta development (GO:0001892)|erythrocyte differentiation (GO:0030218)|lung development (GO:0030324)|mitochondrion organization (GO:0007005)|myoblast fate commitment (GO:0048625)|norepinephrine metabolic process (GO:0042415)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart rate (GO:0002027)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|surfactant homeostasis (GO:0043129)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|histone acetyltransferase binding (GO:0035035)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)	p.S72L(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			CTCCTCTCCTCAGGTAAGGCC	0.587																																							uc002ruv.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(214-216)TCA>TTA		endothelial PAS domain protein 1							99.0	90.0	93.0					2																	46574200		2203	4300	6503	SO:0001583	missense	2034				angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding	g.chr2:46574200C>T	U81984	CCDS1825.1	2p21-p16	2013-05-21			ENSG00000116016	ENSG00000116016		"""Basic helix-loop-helix proteins"""	3374	protein-coding gene	gene with protein product	"""HIF-1 alpha-like factor"""	603349				9000051, 9079689, 18378852	Standard	NM_001430		Approved	MOP2, PASD2, HIF2A, HLF, bHLHe73	uc002ruv.3	Q99814	OTTHUMG00000128818	ENST00000263734.3:c.215C>T	2.37:g.46574200C>T	ENSP00000263734:p.Ser72Leu						p.S72L	NM_001430	NP_001421	Q99814	EPAS1_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.151)		2	703	+		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	72					Q86VA2|Q99630	Missense_Mutation	SNP	ENST00000263734.3	37	c.215C>T	CCDS1825.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.331363	0.81690	.	.	ENSG00000116016	ENST00000449347;ENST00000263734	T;T	0.21932	1.98;1.98	4.82	4.82	0.62117	Helix-loop-helix DNA-binding (2);	0.607996	0.16340	N	0.218708	T	0.21801	0.0525	L	0.48935	1.535	0.80722	D	1	B	0.26400	0.148	B	0.20577	0.03	T	0.04481	-1.0948	9	.	.	.	.	18.1753	0.89759	0.0:1.0:0.0:0.0	.	72	Q99814	EPAS1_HUMAN	L	72	ENSP00000406137:S72L;ENSP00000263734:S72L	.	S	+	2	0	EPAS1	46427704	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	5.825000	0.69286	2.517000	0.84864	0.556000	0.70494	TCA		0.587	EPAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250752.2	NM_001430		13	60	0	0	0	0.001855	0	13	60				
STON1	11037	broad.mit.edu	37	2	48809666	48809666	+	Missense_Mutation	SNP	G	G	T	rs368758176		TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr2:48809666G>T	ENST00000406226.1	+	3	2089	c.1894G>T	c.(1894-1896)Gta>Tta	p.V632L	STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.V632L|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.V632L|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.V632L|STON1-GTF2A1L_ENST00000394754.1_Missense_Mutation_p.V632L|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.V632L|STON1_ENST00000404752.1_Missense_Mutation_p.V632L|STON1_ENST00000309835.3_Missense_Mutation_p.V632L	NM_001198595.1	NP_001185524.1	Q9Y6Q2	STON1_HUMAN	stonin 1	632	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)|regulation of endocytosis (GO:0030100)	clathrin adaptor complex (GO:0030131)		p.V632L(2)		NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2)	37		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CCAGGCAGTGGTATGGAAGAT	0.428																																							uc010yol.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|pancreas(1)|skin(1)	5						c.(1894-1896)GTA>TTA		stonin 1							49.0	48.0	49.0					2																	48809666		2203	4300	6503	SO:0001583	missense	286749				endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex		g.chr2:48809666G>T	AF026169	CCDS1841.1	2p16.3	2008-02-05			ENSG00000243244	ENSG00000243244			17003	protein-coding gene	gene with protein product	"""stoned B homolog 1 (Drosophila)"""	605357				14504226, 10364255	Standard	NM_001198595		Approved	SBLF, stoned-b1		Q9Y6Q2	OTTHUMG00000129169	ENST00000406226.1:c.1894G>T	2.37:g.48809666G>T	ENSP00000384615:p.Val632Leu					STON1_uc002rwo.3_Missense_Mutation_p.V632L|STON1_uc010fbm.2_Missense_Mutation_p.V632L|STON1-GTF2A1L_uc002rwp.1_Missense_Mutation_p.V632L|STON1_uc002rwr.2_RNA|STON1_uc002rwq.2_Missense_Mutation_p.V632L	p.V632L	NM_006873	NP_006864	B7ZL16	B7ZL16_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		1	1941	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	632					A8MXJ1|B5MCF5|B7ZL16|Q96JE3|Q9BYX3	Missense_Mutation	SNP	ENST00000406226.1	37	c.1894G>T	CCDS1841.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.420849	0.83559	.	.	ENSG00000243244;ENSG00000243244;ENSG00000243244;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781	ENST00000404752;ENST00000406226;ENST00000309835;ENST00000405008;ENST00000402114;ENST00000394754;ENST00000309827;ENST00000394751	T;T;T;T;T;T;T;T	0.20069	2.1;2.1;2.1;2.1;2.1;2.1;2.1;2.1	5.65	5.65	0.86999	Clathrin adaptor, mu subunit, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.54240	0.1846	M	0.85197	2.74	0.58432	D	0.999999	B;D;P	0.89917	0.185;1.0;0.906	B;D;P	0.87578	0.074;0.998;0.695	T	0.56733	-0.7930	10	0.66056	D	0.02	.	19.9142	0.97043	0.0:0.0:1.0:0.0	.	632;632;632	A8MXJ1;Q53S48;Q9Y6Q2	.;.;STON1_HUMAN	L	632	ENSP00000385273:V632L;ENSP00000384615:V632L;ENSP00000310969:V632L;ENSP00000385499:V632L;ENSP00000385701:V632L;ENSP00000378236:V632L;ENSP00000311493:V632L;ENSP00000378234:V632L	ENSP00000310969:V632L	V	+	1	0	STON1-GTF2A1L;STON1	48663170	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.022000	0.57203	2.941000	0.99782	0.655000	0.94253	GTA		0.428	STON1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323848.2	NM_006873		9	39	1	0	0.000673444	0.008291	0.000736895	9	39				
LHCGR	3973	broad.mit.edu	37	2	48915276	48915276	+	Nonsense_Mutation	SNP	G	G	A	rs121912524		TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr2:48915276G>A	ENST00000294954.7	-	11	1681	c.1660C>T	c.(1660-1662)Cga>Tga	p.R554*	STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000403273.1_3'UTR|LHCGR_ENST00000405626.1_Nonsense_Mutation_p.R527*|LHCGR_ENST00000344775.3_Nonsense_Mutation_p.R492*|LHCGR_ENST00000401907.1_Missense_Mutation_p.S317L	NM_000233.3	NP_000224.2	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	554					activation of adenylate cyclase activity (GO:0007190)|cellular response to gonadotropin stimulus (GO:0071371)|cognition (GO:0050890)|development of secondary male sexual characteristics (GO:0046544)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|male genitalia development (GO:0030539)|male gonad development (GO:0008584)|ovarian follicle development (GO:0001541)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|regulation of steroid hormone biosynthetic process (GO:0090030)|seminiferous tubule development (GO:0072520)|spermatogenesis (GO:0007283)|uterus development (GO:0060065)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	choriogonadotropin hormone binding (GO:0038106)|choriogonadotropin hormone receptor activity (GO:0035472)|luteinizing hormone receptor activity (GO:0004964)	p.R554*(2)		NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Buserelin(DB06719)|Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	TCTGGGTTTCGAACTGCAAAA	0.368																																							uc002rwu.3		NA																	2	Substitution - Nonsense(2)	p.R554*(1)	lung(2)	ovary(3)|lung(2)|breast(2)|skin(1)	8	GRCh37	CM960940	LHCGR	M	rs121912524	c.(1660-1662)CGA>TGA		luteinizing hormone/choriogonadotropin receptor	Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)						97.0	99.0	99.0					2																	48915276		2203	4300	6503	SO:0001587	stop_gained	3973	Familial_Male-Limited_Precocious_Puberty			male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity	g.chr2:48915276G>A		CCDS1842.1	2p21	2012-08-10			ENSG00000138039	ENSG00000138039		"""GPCR / Class A : Gonadotropin and TSH receptors"""	6585	protein-coding gene	gene with protein product		152790	"""hypergonadotropic hypogonadism"""	HHG			Standard	NM_000233		Approved	LHR, LCGR, LGR2, ULG5	uc002rwu.4	P22888	OTTHUMG00000129257	ENST00000294954.7:c.1660C>T	2.37:g.48915276G>A	ENSP00000294954:p.Arg554*					GTF2A1L_uc002rwt.2_Intron	p.R554*	NM_000233	NP_000224	P22888	LSHR_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		11	1730	-		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	554			Cytoplasmic (Potential).		Q14751|Q15996|Q9UEW9	Nonsense_Mutation	SNP	ENST00000294954.7	37	c.1660C>T	CCDS1842.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	29.3|29.3	4.992985|4.992985	0.93167|0.93167	.|.	.|.	ENSG00000138039|ENSG00000138039	ENST00000344775;ENST00000294954;ENST00000405626|ENST00000401907	.|T	.|0.76060	.|-0.99	5.68|5.68	3.74|3.74	0.42951|0.42951	.|.	0.241683|.	0.44285|.	D|.	0.000473|.	.|T	.|0.77831	.|0.4189	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.81739	.|-0.0795	.|4	.|.	.|.	.|.	.|.	13.5344|13.5344	0.61639|0.61639	0.0:0.0:0.7171:0.2829|0.0:0.0:0.7171:0.2829	.|.	.|.	.|.	.|.	X|L	492;554;527|317	.|ENSP00000385406:S317L	.|.	R|S	-|-	1|2	2|0	LHCGR|LHCGR	48768780|48768780	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.925000|0.925000	0.55904|0.55904	5.580000|5.580000	0.67464|0.67464	1.373000|1.373000	0.46208|0.46208	0.585000|0.585000	0.79938|0.79938	CGA|TCG		0.368	LHCGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251364.4	NM_000233.3		19	98	0	0	0	0.006122	0	19	98				
NRXN1	9378	broad.mit.edu	37	2	50733715	50733715	+	Missense_Mutation	SNP	A	A	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr2:50733715A>T	ENST00000406316.2	-	13	3891	c.2415T>A	c.(2413-2415)aaT>aaA	p.N805K	NRXN1_ENST00000404971.1_Missense_Mutation_p.N845K|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000406859.3_Missense_Mutation_p.N805K|NRXN1_ENST00000401669.2_Missense_Mutation_p.N805K|NRXN1_ENST00000402717.3_Missense_Mutation_p.N797K|NRXN1_ENST00000405472.3_Missense_Mutation_p.N797K	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	805	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)	p.N845K(1)|p.N846K(1)|p.N805K(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			ACTCGTTATCATTGAGGTTAT	0.453																																							uc010fbq.2		NA																	3	Substitution - Missense(3)		lung(3)	ovary(2)	2						c.(2533-2535)AAT>AAA		neurexin 1 isoform alpha2 precursor							126.0	122.0	123.0					2																	50733715		1926	4132	6058	SO:0001583	missense	9378				angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding	g.chr2:50733715A>T	AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.2415T>A	2.37:g.50733715A>T	ENSP00000384311:p.Asn805Lys					NRXN1_uc002rxb.3_Missense_Mutation_p.N477K|NRXN1_uc002rxe.3_Missense_Mutation_p.N805K|NRXN1_uc002rxc.1_RNA	p.N845K	NM_001135659	NP_001129131	P58400	NRX1B_HUMAN	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		13	4012	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	173			Extracellular (Potential).|Laminin G-like.		A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	SNP	ENST00000406316.2	37	c.2535T>A	CCDS54360.1	.	.	.	.	.	.	.	.	.	.	A	23.0	4.359473	0.82353	.	.	ENSG00000179915	ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859	D;D;D;D;D;D	0.82167	-1.58;-1.58;-1.58;-1.58;-1.58;-1.58	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	D	0.92593	0.7647	M	0.90759	3.145	0.44447	D	0.997379	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.97110	0.998;1.0;0.971	D	0.93602	0.6931	10	0.56958	D	0.05	.	15.9707	0.80013	1.0:0.0:0.0:0.0	.	845;805;797	Q9ULB1-3;F8WB18;A7E294	.;.;.	K	845;805;797;805;846;797;805	ENSP00000385142:N845K;ENSP00000384311:N805K;ENSP00000434015:N797K;ENSP00000385017:N805K;ENSP00000385434:N797K;ENSP00000385681:N805K	ENSP00000385017:N805K	N	-	3	2	NRXN1	50587219	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.521000	0.53472	2.177000	0.69029	0.459000	0.35465	AAT		0.453	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			19	19	0	0	0	0.008871	0	19	19				
NRXN1	9378	broad.mit.edu	37	2	51254933	51254934	+	Missense_Mutation	DNP	GG	GG	AT	rs371517584		TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr2:51254933_51254934GG>AT	ENST00000406316.2	-	2	1954_1955	c.478_479CC>AT	c.(478-480)CCg>ATg	p.P160M	NRXN1_ENST00000404971.1_Missense_Mutation_p.P160M|NRXN1_ENST00000405581.1_Missense_Mutation_p.P160M|NRXN1_ENST00000406859.3_Missense_Mutation_p.P160M|NRXN1_ENST00000401669.2_Missense_Mutation_p.P160M|NRXN1_ENST00000402717.3_Missense_Mutation_p.P160M|NRXN1_ENST00000405472.3_Missense_Mutation_p.P160M	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	160	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)	p.P160M(3)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GCGCAGTTCCGGGGGCAGCCCC	0.663																																							uc010fbq.2		NA																	3	Substitution - Missense(3)		lung(3)	ovary(2)	2						c.(478-480)CCG>ATG		neurexin 1 isoform alpha2 precursor																																				SO:0001583	missense	9378				angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding	g.chr2:51254933_51254934GG>AT	AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.478_479delinsAT	2.37:g.51254933_51254934delinsAT	ENSP00000384311:p.Pro160Met					NRXN1_uc002rxe.3_Missense_Mutation_p.P160M|NRXN1_uc002rxd.1_Missense_Mutation_p.P160M	p.P160M	NM_001135659	NP_001129131	P58400	NRX1B_HUMAN	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		2	1955_1956	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	DNP	ENST00000406316.2	37	c.478_479CC>AT	CCDS54360.1																																																																																				0.663	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			8	7	0	0	0	0.004672	0	8	7				
SPTBN1	6711	broad.mit.edu	37	2	54872432	54872432	+	Silent	SNP	C	C	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr2:54872432C>T	ENST00000356805.4	+	21	4617	c.4336C>T	c.(4336-4338)Ctg>Ttg	p.L1446L	SPTBN1_ENST00000333896.5_Silent_p.L1433L	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	1446					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi to plasma membrane protein transport (GO:0043001)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|plasma membrane organization (GO:0007009)|protein targeting to plasma membrane (GO:0072661)	axolemma (GO:0030673)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phospholipid binding (GO:0005543)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)	p.L1446L(1)|p.L1433L(1)		NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			AGCCCAGGCCCTGAGTCAGGA	0.577																																							uc002rxu.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(3)|breast(2)|central_nervous_system(2)|skin(1)	8						c.(4336-4338)CTG>TTG		spectrin, beta, non-erythrocytic 1 isoform 1							121.0	112.0	115.0					2																	54872432		2203	4300	6503	SO:0001819	synonymous_variant	6711				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton	g.chr2:54872432C>T		CCDS33198.1, CCDS33199.1	2p21	2013-01-10			ENSG00000115306	ENSG00000115306		"""Pleckstrin homology (PH) domain containing"""	11275	protein-coding gene	gene with protein product		182790					Standard	NM_003128		Approved		uc002rxu.3	Q01082	OTTHUMG00000133746	ENST00000356805.4:c.4336C>T	2.37:g.54872432C>T						SPTBN1_uc002rxx.2_Silent_p.L1433L	p.L1446L	NM_003128	NP_003119	Q01082	SPTB2_HUMAN	Lung(47;0.24)		21	4585	+			1446			Spectrin 11.		B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Silent	SNP	ENST00000356805.4	37	c.4336C>T	CCDS33198.1																																																																																				0.577	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258115.3			18	73	0	0	0	0.00499	0	18	73				
AAK1	22848	broad.mit.edu	37	2	69736519	69736519	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr2:69736519C>A	ENST00000409085.4	-	14	2226	c.1850G>T	c.(1849-1851)gGa>gTa	p.G617V	AAK1_ENST00000409068.1_Missense_Mutation_p.G617V|AAK1_ENST00000406297.3_Missense_Mutation_p.G617V	NM_014911.3	NP_055726	Q2M2I8	AAK1_HUMAN	AP2 associated kinase 1	617					endocytosis (GO:0006897)|positive regulation of Notch signaling pathway (GO:0045747)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of clathrin-mediated endocytosis (GO:2000369)|regulation of protein localization (GO:0032880)	cell leading edge (GO:0031252)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|extrinsic component of plasma membrane (GO:0019897)|terminal bouton (GO:0043195)	AP-2 adaptor complex binding (GO:0035612)|ATP binding (GO:0005524)|Notch binding (GO:0005112)|protein serine/threonine kinase activity (GO:0004674)	p.G617V(2)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)	17						AGTGAGAGATCCAACTTTCTG	0.557																																							uc002sfp.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(1849-1851)GGA>GTA		AP2 associated kinase 1							73.0	74.0	74.0					2																	69736519		1923	4125	6048	SO:0001583	missense	22848					coated pit|mitochondrion|plasma membrane	ATP binding|protein serine/threonine kinase activity	g.chr2:69736519C>A	AB028971	CCDS1893.2	2p13.3	2012-07-10			ENSG00000115977	ENSG00000115977			19679	protein-coding gene	gene with protein product						11877461, 12471243	Standard	NM_014911		Approved	KIAA1048, DKFZp686K16132	uc002sfp.2	Q2M2I8	OTTHUMG00000129648	ENST00000409085.4:c.1850G>T	2.37:g.69736519C>A	ENSP00000386456:p.Gly617Val					AAK1_uc010fdk.2_Missense_Mutation_p.G617V|AAK1_uc010yqm.1_Missense_Mutation_p.G618V	p.G617V	NM_014911	NP_055726	Q2M2I8	AAK1_HUMAN			14	2355	-			617					Q4ZFZ3|Q53RX6|Q9UPV4	Missense_Mutation	SNP	ENST00000409085.4	37	c.1850G>T	CCDS1893.2	.	.	.	.	.	.	.	.	.	.	C	19.44	3.827086	0.71143	.	.	ENSG00000115977	ENST00000409068;ENST00000409085;ENST00000406297	T;T;T	0.31510	1.49;1.49;1.49	5.73	5.73	0.89815	.	0.053759	0.64402	D	0.000001	T	0.45955	0.1368	L	0.29908	0.895	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	T	0.23190	-1.0195	10	0.39692	T	0.17	-9.4295	18.8936	0.92414	0.0:1.0:0.0:0.0	.	617;617;617	B7ZLC4;Q2M2I8-2;Q2M2I8	.;.;AAK1_HUMAN	V	617	ENSP00000386342:G617V;ENSP00000386456:G617V;ENSP00000385181:G617V	ENSP00000385181:G617V	G	-	2	0	AAK1	69590023	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.100000	0.76989	2.698000	0.92095	0.655000	0.94253	GGA		0.557	AAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251847.4	NM_014911		14	28	1	0	7.93312e-07	0.00245	9.7214e-07	14	28				
GMCL1	64395	broad.mit.edu	37	2	70096905	70096905	+	Missense_Mutation	SNP	A	A	G			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr2:70096905A>G	ENST00000282570.3	+	12	1524	c.1273A>G	c.(1273-1275)Acc>Gcc	p.T425A		NM_178439.3	NP_848526.1	Q96IK5	GMCL1_HUMAN	germ cell-less, spermatogenesis associated 1	425					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)	nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)		p.T425A(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	15						TGTAACTTACACCAATCGATA	0.398																																							uc002sfu.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(1273-1275)ACC>GCC		germ cell-less							161.0	142.0	149.0					2																	70096905		2203	4300	6503	SO:0001583	missense	64395				cell differentiation|multicellular organismal development|spermatogenesis	nuclear matrix		g.chr2:70096905A>G	AK023119	CCDS1895.1	2p13.3	2013-01-09	2012-08-20		ENSG00000087338	ENSG00000087338		"""BTB/POZ domain containing"""	23843	protein-coding gene	gene with protein product	"""spermatogenesis associated 29"""		"""germ cell-less homolog 1 (Drosophila)"""				Standard	NM_178439		Approved	FLJ13057, BTBD13, GCL1, SPATA29	uc002sfu.3	Q96IK5	OTTHUMG00000129643	ENST00000282570.3:c.1273A>G	2.37:g.70096905A>G	ENSP00000282570:p.Thr425Ala						p.T425A	NM_178439	NP_848526	Q96IK5	GMCL1_HUMAN			12	1480	+			425					Q9H826|Q9H8V7|Q9H927	Missense_Mutation	SNP	ENST00000282570.3	37	c.1273A>G	CCDS1895.1	.	.	.	.	.	.	.	.	.	.	A	19.29	3.799728	0.70567	.	.	ENSG00000087338	ENST00000282570	T	0.55052	0.54	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.58119	0.2100	M	0.61703	1.905	0.58432	D	0.999998	P	0.35793	0.521	B	0.44163	0.443	T	0.60566	-0.7238	10	0.49607	T	0.09	-12.3663	13.3387	0.60533	1.0:0.0:0.0:0.0	.	425	Q96IK5	GMCL1_HUMAN	A	425	ENSP00000282570:T425A	ENSP00000282570:T425A	T	+	1	0	GMCL1	69950409	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	8.883000	0.92426	2.090000	0.63153	0.533000	0.62120	ACC		0.398	GMCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251841.2	NM_178439		42	75	0	0	0	0.003214	0	42	75				
VAX2	25806	broad.mit.edu	37	2	71148364	71148364	+	Silent	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr2:71148364G>T	ENST00000234392.2	+	2	416	c.384G>T	c.(382-384)gtG>gtT	p.V128V		NM_012476.2	NP_036608.1	Q9UIW0	VAX2_HUMAN	ventral anterior homeobox 2	128					axonogenesis (GO:0007409)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic eye morphogenesis (GO:0048048)|forebrain development (GO:0030900)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|retina development in camera-type eye (GO:0060041)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.V128V(1)		central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	7						AGTATGTGGTGGGCCGCGAGC	0.657																																							uc002shh.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(382-384)GTG>GTT		ventral anterior homeobox 2							43.0	42.0	42.0					2																	71148364		2203	4300	6503	SO:0001819	synonymous_variant	25806				ectoderm development|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:71148364G>T	Y17791	CCDS1911.1	2p13.3	2011-06-20			ENSG00000116035	ENSG00000116035		"""Homeoboxes / ANTP class : NKL subclass"""	12661	protein-coding gene	gene with protein product		604295				10485894	Standard	NM_012476		Approved	DRES93	uc002shh.3	Q9UIW0	OTTHUMG00000129714	ENST00000234392.2:c.384G>T	2.37:g.71148364G>T							p.V128V	NM_012476	NP_036608	Q9UIW0	VAX2_HUMAN			2	416	+			128			Homeobox.		Q53Y33	Silent	SNP	ENST00000234392.2	37	c.384G>T	CCDS1911.1																																																																																				0.657	VAX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251923.1			14	52	1	0	4.14922e-12	0.004007	6.17249e-12	14	52				
ALMS1	7840	broad.mit.edu	37	2	73678725	73678725	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr2:73678725G>T	ENST00000264448.6	+	8	5179	c.5068G>T	c.(5068-5070)Gtt>Ttt	p.V1690F	ALMS1_ENST00000409009.1_Missense_Mutation_p.V1648F|ALMS1_ENST00000377715.1_Missense_Mutation_p.V1690F	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	1690	34 X 47 AA approximate tandem repeat.				endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)		p.V1690F(1)		breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						AGCTCTGAAAGTTCCACCTGT	0.438																																							uc002sje.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1)	9						c.(5074-5076)GTT>TTT		Alstrom syndrome 1							99.0	101.0	100.0					2																	73678725		1874	4095	5969	SO:0001583	missense	7840				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		g.chr2:73678725G>T	AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.5068G>T	2.37:g.73678725G>T	ENSP00000264448:p.Val1690Phe					ALMS1_uc002sjf.1_Missense_Mutation_p.V1648F|ALMS1_uc002sjg.2_Missense_Mutation_p.V1078F|ALMS1_uc002sjh.1_Missense_Mutation_p.V1078F	p.V1692F	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN			10	5185	+			1690			25.|34 X 47 AA approximate tandem repeat.		Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	ENST00000264448.6	37	c.5074G>T	CCDS42697.1	.	.	.	.	.	.	.	.	.	.	G	14.95	2.689743	0.48097	.	.	ENSG00000116127	ENST00000409009;ENST00000264448;ENST00000377715	T;T;T	0.25749	2.64;2.65;1.78	4.34	-2.08	0.07254	.	1.336750	0.04962	N	0.462182	T	0.41143	0.1146	L	0.46157	1.445	0.09310	N	1	P;B;D	0.71674	0.904;0.366;0.998	P;B;D	0.69142	0.715;0.056;0.962	T	0.46176	-0.9210	10	0.72032	D	0.01	.	9.0818	0.36556	0.6618:0.0:0.3382:0.0	.	1690;1648;1690	Q8TCU4-3;B8ZZJ3;Q8TCU4	.;.;ALMS1_HUMAN	F	1648;1690;1690	ENSP00000386627:V1648F;ENSP00000264448:V1690F;ENSP00000366944:V1690F	ENSP00000264448:V1690F	V	+	1	0	ALMS1	73532233	0.000000	0.05858	0.000000	0.03702	0.130000	0.20726	-0.919000	0.04017	-0.427000	0.07350	0.563000	0.77884	GTT		0.438	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120		18	114	1	0	1.33834e-09	0.007413	1.81403e-09	18	114				
TRABD2A	129293	broad.mit.edu	37	2	85049050	85049050	+	Silent	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr2:85049050G>T	ENST00000409520.2	-	7	1551	c.1509C>A	c.(1507-1509)ccC>ccA	p.P503P	TRABD2A_ENST00000335459.5_Silent_p.P454P|TRABD2A_ENST00000479944.1_5'UTR	NM_001277053.1	NP_001263982.1	Q86V40	TIKI1_HUMAN	TraB domain containing 2A	503					head development (GO:0060322)|metabolic process (GO:0008152)|negative regulation of Wnt signaling pathway (GO:0030178)|protein oxidation (GO:0018158)|Wnt signaling pathway (GO:0016055)	integral component of organelle membrane (GO:0031301)|integral component of plasma membrane (GO:0005887)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|Wnt-protein binding (GO:0017147)	p.P454P(1)|p.P503P(1)									GTTACAGGAGGGGTGTCTCTG	0.572																																							uc010ysl.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(1507-1509)CCC>CCA		hypothetical protein LOC129293 precursor							50.0	52.0	51.0					2																	85049050		2036	4222	6258	SO:0001819	synonymous_variant	129293					integral to membrane		g.chr2:85049050G>T	BC049209	CCDS46349.1, CCDS62946.1	2p11.2	2012-07-04	2012-07-04	2012-07-04	ENSG00000186854	ENSG00000186854			27013	protein-coding gene	gene with protein product		614912	"""chromosome 2 open reading frame 89"""	C2orf89		12477932	Standard	NM_001080824		Approved		uc010ysl.3	Q86V40	OTTHUMG00000152922	ENST00000409520.2:c.1509C>A	2.37:g.85049050G>T						C2orf89_uc002sou.3_Silent_p.P454P	p.P503P	NM_001080824	NP_001074293	Q86V40	CB089_HUMAN			7	1598	-			503			Cytoplasmic (Potential).		B4DKK8|I6UMB9	Silent	SNP	ENST00000409520.2	37	c.1509C>A																																																																																					0.572	TRABD2A-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001080824		4	7	1	0	0.00909568	0.009096	0.00956356	4	7				
SFTPB	6439	broad.mit.edu	37	2	85894864	85894864	+	Nonsense_Mutation	SNP	G	G	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr2:85894864G>A	ENST00000519937.2	-	2	152	c.133C>T	c.(133-135)Caa>Taa	p.Q45*	SFTPB_ENST00000393822.3_Nonsense_Mutation_p.Q57*|SFTPB_ENST00000342375.3_Nonsense_Mutation_p.Q45*|SFTPB_ENST00000409383.1_Nonsense_Mutation_p.Q57*			P07988	PSPB_HUMAN	surfactant protein B	45	Saposin A-type. {ECO:0000255|PROSITE- ProRule:PRU00414}.				organ morphogenesis (GO:0009887)|respiratory gaseous exchange (GO:0007585)|sphingolipid metabolic process (GO:0006665)	extracellular region (GO:0005576)|lysosome (GO:0005764)		p.Q45*(1)		central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)	16						TGCAATGCTTGCTCCAGGCTT	0.592																																							uc002sqh.2		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2	GRCh37	CD993070	SFTPB	D		c.(133-135)CAA>TAA		surfactant, pulmonary-associated protein B							99.0	91.0	94.0					2																	85894864		2203	4300	6503	SO:0001587	stop_gained	6439				organ morphogenesis|respiratory gaseous exchange|sphingolipid metabolic process	extracellular space|lysosome		g.chr2:85894864G>A	J02761	CCDS1983.1, CCDS1983.2	2p12-p11.2	2008-08-26	2008-08-26		ENSG00000168878	ENSG00000168878			10801	protein-coding gene	gene with protein product		178640	"""surfactant, pulmonary-associated protein B"""	SFTP3		2924687, 1346779	Standard	NM_198843		Approved	SP-B	uc002sqh.3	P07988	OTTHUMG00000130181	ENST00000519937.2:c.133C>T	2.37:g.85894864G>A	ENSP00000428719:p.Gln45*					SFTPB_uc002sqi.2_Nonsense_Mutation_p.Q57*|SFTPB_uc002sqj.2_Nonsense_Mutation_p.Q45*	p.Q45*	NM_198843	NP_942140	P07988	PSPB_HUMAN			2	139	-			45			Saposin A-type.		Q96R04	Nonsense_Mutation	SNP	ENST00000519937.2	37	c.133C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.5|22.5	4.301670|4.301670	0.81136|0.81136	.|.	.|.	ENSG00000168878|ENSG00000168878	ENST00000428225|ENST00000519937;ENST00000393822;ENST00000342375;ENST00000409383;ENST00000441838	.|.	.|.	.|.	4.86|4.86	3.88|3.88	0.44766|0.44766	.|.	.|0.450854	.|0.18106	.|N	.|0.151511	T|.	0.55784|.	0.1942|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.67469|.	-0.5663|.	3|.	.|0.54805	.|T	.|0.06	-0.3198|-0.3198	8.7463|8.7463	0.34589|0.34589	0.0:0.0:0.7122:0.2878|0.0:0.0:0.7122:0.2878	.|.	.|.	.|.	.|.	V|X	41|47;57;45;57;45	.|.	.|ENSP00000345161:Q45X	A|Q	-|-	2|1	0|0	SFTPB|SFTPB	85748375|85748375	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.559000|0.559000	0.35586|0.35586	3.095000|3.095000	0.50235|0.50235	2.223000|2.223000	0.72356|0.72356	0.655000|0.655000	0.94253|0.94253	GCA|CAA		0.592	SFTPB-001	KNOWN	alternative_3_UTR|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000252499.3	NM_198843		44	65	0	0	0	0.003214	0	44	65				
CIAO1	9391	broad.mit.edu	37	2	96936996	96936996	+	Silent	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr2:96936996G>T	ENST00000488633.1	+	7	1146	c.927G>T	c.(925-927)gtG>gtT	p.V309V		NM_004804.2	NP_004795.1			cytosolic iron-sulfur assembly component 1									p.V309V(1)		endometrium(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)	5						TCAACTGTGTGGCCTGGAACC	0.602																																							uc002svs.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(925-927)GTG>GTT		WD repeat domain 39							88.0	78.0	81.0					2																	96936996		2203	4300	6503	SO:0001819	synonymous_variant	9391				chromosome segregation|iron-sulfur cluster assembly|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter	MMXD complex	protein binding	g.chr2:96936996G>T	U63810	CCDS2019.1	2q11.1-q11.2	2014-01-13	2014-01-13	2006-11-23	ENSG00000144021	ENSG00000144021		"""WD repeat domain containing"""	14280	protein-coding gene	gene with protein product		604333	"""WD repeat domain 39"", ""cytosolic iron-sulfur protein assembly 1 homolog (S. cerevisiae)"", ""cytosolic iron-sulfur protein assembly 1"""	WDR39		9556563, 10493829	Standard	NM_004804		Approved	CIA1	uc002svs.3	O76071	OTTHUMG00000130452	ENST00000488633.1:c.927G>T	2.37:g.96936996G>T							p.V309V	NM_004804	NP_004795	O76071	CIAO1_HUMAN			7	1132	+			309			WD 7.			Silent	SNP	ENST00000488633.1	37	c.927G>T	CCDS2019.1																																																																																				0.602	CIAO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252843.1	NM_004804		25	45	1	0	3.28513e-13	0.003954	5.05632e-13	25	45				
SNRNP200	23020	broad.mit.edu	37	2	96950178	96950178	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr2:96950178C>A	ENST00000323853.5	-	31	4387	c.4310G>T	c.(4309-4311)cGg>cTg	p.R1437L	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	1437	Helicase ATP-binding 2. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|cis assembly of pre-catalytic spliceosome (GO:0000354)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U5 snRNP (GO:0005682)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)	p.R1437L(1)		breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						CTTCCATCGCCGGGAAAGTAT	0.557																																							uc002svu.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(4)|large_intestine(1)	10						c.(4309-4311)CGG>CTG		activating signal cointegrator 1 complex subunit							186.0	144.0	158.0					2																	96950178		2203	4300	6503	SO:0001583	missense	23020					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr2:96950178C>A	AL831994	CCDS2020.1	2q11.2	2013-05-13	2008-10-29	2008-10-29	ENSG00000144028	ENSG00000144028			30859	protein-coding gene	gene with protein product	"""U5 snRNP specific protein, 200 KD"""	601664	"""activating signal cointegrator 1 complex subunit 3-like 1"", ""retinitis pigmentosa 33 (autosomal dominant)"""	ASCC3L1, RP33		9872452, 8670905, 9774689, 9539711, 16612614, 19878916	Standard	NM_014014		Approved	U5-200KD, HELIC2, KIAA0788, BRR2	uc002svu.3	O75643	OTTHUMG00000130455	ENST00000323853.5:c.4310G>T	2.37:g.96950178C>A	ENSP00000317123:p.Arg1437Leu					SNRNP200_uc002svt.2_Missense_Mutation_p.R47L|SNRNP200_uc010yuj.1_RNA|SNRNP200_uc002svv.1_5'UTR	p.R1437L	NM_014014	NP_054733	O75643	U520_HUMAN			31	4396	-			1437			Helicase ATP-binding 2.		O94884|Q6NZY0|Q6PX59|Q8NBE6|Q96IF2|Q9H7S0	Missense_Mutation	SNP	ENST00000323853.5	37	c.4310G>T	CCDS2020.1	.	.	.	.	.	.	.	.	.	.	C	35	5.416311	0.96092	.	.	ENSG00000144028	ENST00000323853	T	0.37915	1.17	5.62	5.62	0.85841	DEAD-like helicase (2);ATPase, AAA+ type, core (1);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.69993	0.3173	M	0.92555	3.32	0.80722	D	1	D	0.67145	0.996	D	0.74023	0.982	T	0.77651	-0.2508	10	0.87932	D	0	-21.0822	18.4325	0.90632	0.0:1.0:0.0:0.0	.	1437	O75643	U520_HUMAN	L	1437	ENSP00000317123:R1437L	ENSP00000317123:R1437L	R	-	2	0	SNRNP200	96313905	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.466000	0.80914	2.659000	0.90383	0.655000	0.94253	CGG		0.557	SNRNP200-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252846.2	NM_014014		27	43	1	0	4.7796e-09	0.004656	6.37696e-09	27	43				
VWA3B	200403	broad.mit.edu	37	2	98736075	98736075	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr2:98736075C>T	ENST00000477737.1	+	4	595	c.391C>T	c.(391-393)Cgg>Tgg	p.R131W	VWA3B_ENST00000435344.1_Missense_Mutation_p.R131W|VWA3B_ENST00000451075.2_Intron	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	131								p.R131W(1)		NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						CAGCAAGAGCCGGCAGATTTT	0.498																																							uc002syo.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(2)|skin(1)	6						c.(391-393)CGG>TGG		von Willebrand factor A domain containing 3B							160.0	156.0	157.0					2																	98736075		1968	4149	6117	SO:0001583	missense	200403							g.chr2:98736075C>T	AL832761	CCDS42718.1	2q11.2	2008-02-05			ENSG00000168658	ENSG00000168658			28385	protein-coding gene	gene with protein product						12477932	Standard	NM_144992		Approved	DKFZp686F2227, MGC26733	uc002syo.3	Q502W6	OTTHUMG00000153104	ENST00000477737.1:c.391C>T	2.37:g.98736075C>T	ENSP00000417955:p.Arg131Trp					VWA3B_uc010yvh.1_Intron|VWA3B_uc002syj.2_RNA|VWA3B_uc002syk.1_RNA|VWA3B_uc002syl.1_5'UTR|VWA3B_uc002sym.2_Missense_Mutation_p.R131W|VWA3B_uc002syn.1_RNA	p.R131W	NM_144992	NP_659429	Q502W6	VWA3B_HUMAN			4	655	+			131					B9EK71|Q86T73|Q8N2D0|Q8N770|Q8NA79|Q8ND63|Q8ND65|Q8WW02	Missense_Mutation	SNP	ENST00000477737.1	37	c.391C>T	CCDS42718.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.982832	0.74474	.	.	ENSG00000168658	ENST00000435344;ENST00000477737	T;T	0.00468	7.22;7.22	6.02	2.95	0.34219	.	0.092675	0.47455	D	0.000240	T	0.01558	0.0050	M	0.84326	2.69	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.57394	-0.7819	10	0.87932	D	0	.	14.3702	0.66833	0.5756:0.4244:0.0:0.0	.	131;131	Q502W6;Q502W6-8	VWA3B_HUMAN;.	W	131	ENSP00000401959:R131W;ENSP00000417955:R131W	ENSP00000411168:R131W	R	+	1	2	VWA3B	98102507	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	1.604000	0.36804	0.725000	0.32318	-0.181000	0.13052	CGG		0.498	VWA3B-020	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353469.2	NM_144992		17	163	0	0	0	0.00499	0	17	163				
MGAT4A	11320	broad.mit.edu	37	2	99242232	99242232	+	Missense_Mutation	SNP	C	C	A	rs146487281		TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr2:99242232C>A	ENST00000264968.3	-	14	1898	c.1535G>T	c.(1534-1536)cGa>cTa	p.R512L	MGAT4A_ENST00000414521.2_Missense_Mutation_p.R384L|MGAT4A_ENST00000409391.1_Missense_Mutation_p.R512L|MGAT4A_ENST00000393487.1_Missense_Mutation_p.R512L			Q9UM21	MGT4A_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme A	512					cellular protein metabolic process (GO:0044267)|N-glycan processing (GO:0006491)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0008454)|metal ion binding (GO:0046872)	p.R512L(1)		NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	19						AACTGAAAGTCGAAAGGCTGA	0.338																																							uc002sze.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1534-1536)CGA>CTA		alpha-1,3-mannosyl-glycoprotein							81.0	74.0	76.0					2																	99242232		2203	4300	6503	SO:0001583	missense	11320				N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding	g.chr2:99242232C>A	AB000616	CCDS2036.1, CCDS54380.1	2q12	2013-02-25	2005-11-16		ENSG00000071073	ENSG00000071073	2.4.1.145	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	7047	protein-coding gene	gene with protein product		604623	"""mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isoenzyme A"""			10024668	Standard	NM_001160154		Approved	GnT-Iva, GnT-4a	uc002sze.3	Q9UM21	OTTHUMG00000130563	ENST00000264968.3:c.1535G>T	2.37:g.99242232C>A	ENSP00000264968:p.Arg512Leu					C2orf64_uc002sza.2_Intron|MGAT4A_uc010yvm.1_Missense_Mutation_p.R384L|MGAT4A_uc010fil.2_Missense_Mutation_p.R266L	p.R512L	NM_012214	NP_036346	Q9UM21	MGT4A_HUMAN			15	1849	-			512			Lumenal (Potential).		B4E2R6|D3DVH6|E9PEN2|Q53S97|Q86Z15	Missense_Mutation	SNP	ENST00000264968.3	37	c.1535G>T	CCDS2036.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.494492	0.85069	.	.	ENSG00000071073	ENST00000393487;ENST00000414521;ENST00000264968;ENST00000409391	T;T;T;T	0.35789	1.29;1.43;1.29;1.29	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.65780	0.2724	M	0.86028	2.79	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.81914	0.995;0.987	T	0.70328	-0.4902	10	0.62326	D	0.03	.	18.372	0.90409	0.0:1.0:0.0:0.0	.	384;512	E9PEN2;Q9UM21	.;MGT4A_HUMAN	L	512;384;512;512	ENSP00000377127:R512L;ENSP00000404889:R384L;ENSP00000264968:R512L;ENSP00000386841:R512L	ENSP00000264968:R512L	R	-	2	0	MGAT4A	98608664	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.850000	0.75420	2.644000	0.89710	0.655000	0.94253	CGA		0.338	MGAT4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252988.2	NM_012214		8	39	1	0	3.09899e-07	0.004482	3.85769e-07	8	39				
CREG2	200407	broad.mit.edu	37	2	101967402	101967402	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr2:101967402C>A	ENST00000324768.5	-	4	993	c.856G>T	c.(856-858)Gtt>Ttt	p.V286F		NM_153836.3	NP_722578.1	Q8IUH2	CREG2_HUMAN	cellular repressor of E1A-stimulated genes 2	286						endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)	FMN binding (GO:0010181)|oxidoreductase activity (GO:0016491)	p.V286F(1)		endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	10						TTTCTGGGAACTGCTTTGAAA	0.418																																							uc002tba.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(856-858)GTT>TTT		cellular repressor of E1A-stimulated genes 2							145.0	136.0	139.0					2																	101967402		2203	4300	6503	SO:0001583	missense	200407					extracellular region	FMN binding	g.chr2:101967402C>A	AB046109	CCDS2052.1	2q12.1	2007-08-01			ENSG00000175874	ENSG00000175874			14272	protein-coding gene	gene with protein product						12408961	Standard	NM_153836		Approved		uc002tba.2	Q8IUH2	OTTHUMG00000130692	ENST00000324768.5:c.856G>T	2.37:g.101967402C>A	ENSP00000315203:p.Val286Phe						p.V286F	NM_153836	NP_722578	Q8IUH2	CREG2_HUMAN			4	902	-			286					Q86X03|Q8N540|Q8N9E3	Missense_Mutation	SNP	ENST00000324768.5	37	c.856G>T	CCDS2052.1	.	.	.	.	.	.	.	.	.	.	C	18.15	3.560872	0.65538	.	.	ENSG00000175874	ENST00000324768	T	0.45276	0.9	5.88	3.09	0.35607	FMN-binding split barrel-related (1);	0.261207	0.38605	N	0.001626	T	0.40040	0.1101	L	0.57536	1.79	0.24898	N	0.992127	P	0.42409	0.779	B	0.42462	0.388	T	0.36383	-0.9750	10	0.66056	D	0.02	.	9.125	0.36810	0.0:0.7337:0.0:0.2663	.	286	Q8IUH2	CREG2_HUMAN	F	286	ENSP00000315203:V286F	ENSP00000315203:V286F	V	-	1	0	CREG2	101333834	0.007000	0.16637	0.836000	0.33094	0.998000	0.95712	1.002000	0.29796	1.487000	0.48415	0.655000	0.94253	GTT		0.418	CREG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253188.2	NM_153836		36	135	1	0	7.63091e-17	0.007835	1.2764e-16	36	135				
SLC9A4	389015	broad.mit.edu	37	2	103090302	103090302	+	Silent	SNP	T	T	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr2:103090302T>A	ENST00000295269.4	+	1	541	c.84T>A	c.(82-84)tcT>tcA	p.S28S		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	28					epithelial cell development (GO:0002064)|gastric acid secretion (GO:0001696)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)	p.S28S(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						AAGCATCTTCTGATTTGAATG	0.463																																							uc002tbz.3		NA																	1	Substitution - coding silent(1)		lung(1)	skin(2)|central_nervous_system(1)	3						c.(82-84)TCT>TCA		solute carrier family 9 (sodium/hydrogen							221.0	198.0	206.0					2																	103090302		2203	4300	6503	SO:0001819	synonymous_variant	389015				regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity	g.chr2:103090302T>A		CCDS33264.1	2q12.1	2013-05-22	2012-03-22		ENSG00000180251	ENSG00000180251		"""Solute carriers"""	11077	protein-coding gene	gene with protein product		600531	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 4"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 4"""			8199403	Standard	NM_001011552		Approved	NHE4	uc002tbz.4	Q6AI14	OTTHUMG00000153093	ENST00000295269.4:c.84T>A	2.37:g.103090302T>A							p.S28S	NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN			1	541	+			28					Q69YK0	Silent	SNP	ENST00000295269.4	37	c.84T>A	CCDS33264.1																																																																																				0.463	SLC9A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329498.1	NM_001011552.3		46	152	0	0	0	0.00361	0	46	152				
GCC2	9648	broad.mit.edu	37	2	109067569	109067569	+	Splice_Site	SNP	G	G	C			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr2:109067569G>C	ENST00000309863.6	+	3	862		c.e3+1			NM_181453.3	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2						Golgi ribbon formation (GO:0090161)|late endosome to Golgi transport (GO:0034499)|microtubule anchoring (GO:0034453)|microtubule organizing center organization (GO:0031023)|protein localization to Golgi apparatus (GO:0034067)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|recycling endosome to Golgi transport (GO:0071955)|regulation of protein exit from endoplasmic reticulum (GO:0070861)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	identical protein binding (GO:0042802)	p.?(1)		breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						AGGTGTACAGGTATTGGGTTG	0.358																																							uc002tec.2		NA																	1	Unknown(1)		lung(1)	ovary(1)	1						c.e3+1		GRIP and coiled-coil domain-containing 2							113.0	108.0	109.0					2																	109067569		2203	4300	6503	SO:0001630	splice_region_variant	9648				Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding	g.chr2:109067569G>C	BC020645	CCDS33268.1	2q12.3	2008-02-05	2004-03-05		ENSG00000135968	ENSG00000135968			23218	protein-coding gene	gene with protein product		612711	"""GRIP and coiled-coil domain-containing 2"""			12446665	Standard	NM_181453		Approved	GCC185, KIAA0336	uc002tec.3	Q8IWJ2	OTTHUMG00000153214	ENST00000309863.6:c.148+1G>C	2.37:g.109067569G>C						GCC2_uc002ted.2_Intron	p.E50_splice	NM_181453	NP_852118	Q8IWJ2	GCC2_HUMAN			3	302	+								A6H8X8|O15045|Q4ZG46|Q8TDH3|Q9H2G8	Splice_Site	SNP	ENST00000309863.6	37	c.148_splice	CCDS33268.1	.	.	.	.	.	.	.	.	.	.	G	19.16	3.774401	0.70107	.	.	ENSG00000135968	ENST00000435553;ENST00000309863;ENST00000409821;ENST00000409896	.	.	.	5.01	5.01	0.66863	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.1033	0.86655	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GCC2	108434001	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.678000	0.74508	2.332000	0.79248	0.563000	0.77884	.		0.358	GCC2-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358516.3	NM_014635	Intron	10	33	0	0	0	0.006214	0	10	33				
RANBP2	5903	broad.mit.edu	37	2	109380142	109380142	+	Silent	SNP	A	A	G			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr2:109380142A>G	ENST00000283195.6	+	20	3273	c.3147A>G	c.(3145-3147)ccA>ccG	p.P1049P		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	1049					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.P1049P(2)	RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						TTTCCTCACCACAGGTTGTGA	0.443																																							uc002tem.3		NA																RANBP2/ALK(16)	2	Substitution - coding silent(2)		lung(2)	soft_tissue(16)|lung(1)|pancreas(1)	18						c.(3145-3147)CCA>CCG		RAN binding protein 2							94.0	95.0	94.0					2																	109380142		2203	4299	6502	SO:0001819	synonymous_variant	5903				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	g.chr2:109380142A>G	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"""Tetratricopeptide (TTC) repeat domain containing"""	9848	protein-coding gene	gene with protein product		601181	"""acute necrotizing encephalopathy 1 (autosomal dominant)"""	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.3147A>G	2.37:g.109380142A>G							p.P1049P	NM_006267	NP_006258	P49792	RBP2_HUMAN			20	3273	+			1049					Q13074|Q15280|Q53TE2|Q59FH7	Silent	SNP	ENST00000283195.6	37	c.3147A>G	CCDS2079.1																																																																																				0.443	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267		17	128	0	0	0	0.008871	0	17	128				
CCDC138	165055	broad.mit.edu	37	2	109408185	109408185	+	Silent	SNP	A	A	G			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr2:109408185A>G	ENST00000295124.4	+	4	381	c.321A>G	c.(319-321)gaA>gaG	p.E107E	CCDC138_ENST00000412964.2_Silent_p.E107E|CCDC138_ENST00000470608.1_3'UTR	NM_144978.1	NP_659415.1	Q96M89	CC138_HUMAN	coiled-coil domain containing 138	107								p.E107E(1)		endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	14						AAACAGAAGAAGAGTTAATTG	0.274																																							uc002ten.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(319-321)GAA>GAG		coiled-coil domain containing 138							81.0	97.0	92.0					2																	109408185		2197	4285	6482	SO:0001819	synonymous_variant	165055							g.chr2:109408185A>G	AK057307	CCDS2080.1	2q13	2008-02-05			ENSG00000163006	ENSG00000163006			26531	protein-coding gene	gene with protein product						12477932	Standard	NM_144978		Approved	FLJ32745	uc002ten.1	Q96M89	OTTHUMG00000130980	ENST00000295124.4:c.321A>G	2.37:g.109408185A>G						CCDC138_uc002teo.1_Silent_p.E107E|CCDC138_uc002tep.1_5'UTR|CCDC138_uc010fjm.1_5'UTR	p.E107E	NM_144978	NP_659415	Q96M89	CC138_HUMAN			4	381	+			107					Q05DF1|Q4ZG07|Q53TE1|Q6ZUY5|Q86VL7	Silent	SNP	ENST00000295124.4	37	c.321A>G	CCDS2080.1	.	.	.	.	.	.	.	.	.	.	A	8.046	0.764947	0.15914	.	.	ENSG00000163006	ENST00000456512	.	.	.	5.77	0.266	0.15617	.	.	.	.	.	T	0.51261	0.1664	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.38200	-0.9672	4	.	.	.	8.8976	5.5669	0.17175	0.6457:0.1327:0.2216:0.0	.	.	.	.	R	5	.	.	K	+	2	0	CCDC138	108774617	1.000000	0.71417	0.960000	0.40013	0.804000	0.45430	0.807000	0.27140	0.094000	0.17404	0.533000	0.62120	AAG		0.274	CCDC138-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253593.1	NM_144978		22	79	0	0	0	0.00333	0	22	79				
CCDC138	165055	broad.mit.edu	37	2	109415040	109415040	+	Nonsense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr2:109415040G>T	ENST00000295124.4	+	6	793	c.733G>T	c.(733-735)Gag>Tag	p.E245*	CCDC138_ENST00000412964.2_Nonsense_Mutation_p.E245*	NM_144978.1	NP_659415.1	Q96M89	CC138_HUMAN	coiled-coil domain containing 138	245								p.E245*(1)		endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	14						AATTATAAAAGAGGTAACTAT	0.294																																							uc002ten.1		NA																	1	Substitution - Nonsense(1)		lung(1)		0						c.(733-735)GAG>TAG		coiled-coil domain containing 138							42.0	48.0	46.0					2																	109415040		2203	4299	6502	SO:0001587	stop_gained	165055							g.chr2:109415040G>T	AK057307	CCDS2080.1	2q13	2008-02-05			ENSG00000163006	ENSG00000163006			26531	protein-coding gene	gene with protein product						12477932	Standard	NM_144978		Approved	FLJ32745	uc002ten.1	Q96M89	OTTHUMG00000130980	ENST00000295124.4:c.733G>T	2.37:g.109415040G>T	ENSP00000295124:p.Glu245*					CCDC138_uc002teo.1_Nonsense_Mutation_p.E245*|CCDC138_uc002tep.1_5'UTR|CCDC138_uc010fjm.1_5'UTR	p.E245*	NM_144978	NP_659415	Q96M89	CC138_HUMAN			6	793	+			245			Potential.		Q05DF1|Q4ZG07|Q53TE1|Q6ZUY5|Q86VL7	Nonsense_Mutation	SNP	ENST00000295124.4	37	c.733G>T	CCDS2080.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.481253|5.481253	0.96307|0.96307	.|.	.|.	ENSG00000163006|ENSG00000163006	ENST00000412964;ENST00000295124|ENST00000456512	.|D	.|0.90900	.|-2.75	5.69|5.69	5.69|5.69	0.88448|0.88448	.|.	0.065645|.	0.64402|.	D|.	0.000012|.	.|D	.|0.94843	.|0.8334	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|D	.|0.94641	.|0.7830	.|5	0.52906|0.56958	T|D	0.07|0.05	-7.1594|-7.1594	18.5925|18.5925	0.91218|0.91218	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|N	245|142	.|ENSP00000392385:K142N	ENSP00000295124:E245X|ENSP00000392385:K142N	E|K	+|+	1|3	0|2	CCDC138|CCDC138	108781472|108781472	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.654000|0.654000	0.38779|0.38779	6.103000|6.103000	0.71492|0.71492	2.683000|2.683000	0.91414|0.91414	0.655000|0.655000	0.94253|0.94253	GAG|AAG		0.294	CCDC138-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253593.1	NM_144978		15	49	1	0	6.31663e-08	0.003163	8.08971e-08	15	49				
CCDC93	54520	broad.mit.edu	37	2	118753904	118753904	+	Missense_Mutation	SNP	T	T	A	rs113727191		TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr2:118753904T>A	ENST00000376300.2	-	5	535	c.398A>T	c.(397-399)gAg>gTg	p.E133V	AC009303.1_ENST00000413179.1_RNA|CCDC93_ENST00000319432.5_Missense_Mutation_p.E133V|RP11-98C1.2_ENST00000591103.1_RNA|AC009303.1_ENST00000588042.1_RNA|AC009303.1_ENST00000585381.3_RNA|RP11-98C1.1_ENST00000588733.1_RNA|AC009303.1_ENST00000590516.1_RNA|CCDC93_ENST00000460781.1_5'Flank	NM_019044.4	NP_061917.3	Q567U6	CCD93_HUMAN	coiled-coil domain containing 93	133								p.E133V(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(2)	29						GTCACCCATCTCTTCTTTTGT	0.448																																							uc002tlj.2		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(397-399)GAG>GTG		coiled-coil domain containing 93							150.0	143.0	145.0					2																	118753904		2203	4300	6503	SO:0001583	missense	54520							g.chr2:118753904T>A	BC028609	CCDS2121.2	2q14.1	2008-02-05			ENSG00000125633	ENSG00000125633			25611	protein-coding gene	gene with protein product						12477932	Standard	NM_019044		Approved	FLJ10996	uc002tlj.3	Q567U6	OTTHUMG00000058517	ENST00000376300.2:c.398A>T	2.37:g.118753904T>A	ENSP00000365477:p.Glu133Val					CCDC93_uc010fld.1_Missense_Mutation_p.E133V	p.E133V	NM_019044	NP_061917	Q567U6	CCD93_HUMAN			5	524	-			133					A8K3V7|Q4LE78|Q53TJ2|Q8TBX5|Q9H6R5|Q9NV15	Missense_Mutation	SNP	ENST00000376300.2	37	c.398A>T	CCDS2121.2	.	.	.	.	.	.	.	.	.	.	T	28.8	4.954495	0.92726	.	.	ENSG00000125633	ENST00000376300;ENST00000319432	T;T	0.52526	0.66;0.66	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.69333	0.3099	M	0.77486	2.375	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.73658	-0.3913	10	0.72032	D	0.01	-23.0972	14.7094	0.69218	0.0:0.0:0.0:1.0	.	133	Q567U6	CCD93_HUMAN	V	133	ENSP00000365477:E133V;ENSP00000324135:E133V	ENSP00000324135:E133V	E	-	2	0	CCDC93	118470374	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.503000	0.81632	2.173000	0.68751	0.528000	0.53228	GAG		0.448	CCDC93-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000129615.1	NM_019044		14	38	0	0	0	0.004007	0	14	38				
TFCP2L1	29842	broad.mit.edu	37	2	122004483	122004483	+	Nonsense_Mutation	SNP	G	G	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr2:122004483G>A	ENST00000263707.5	-	6	665	c.568C>T	c.(568-570)Cga>Tga	p.R190*		NM_014553.2	NP_055368.1	Q9NZI6	TF2L1_HUMAN	transcription factor CP2-like 1	190					cell morphogenesis (GO:0000902)|cytoplasm organization (GO:0007028)|determination of adult lifespan (GO:0008340)|epithelial cell maturation (GO:0002070)|female pregnancy (GO:0007565)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of growth (GO:0045927)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|salivary gland development (GO:0007431)|steroid biosynthetic process (GO:0006694)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.R190*(1)		cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)|pancreas(2)|skin(1)|stomach(1)	22	Renal(3;0.01)					ATCTGGACTCGAAAGGGCACT	0.567																																							uc002tmx.2		NA																	1	Substitution - Nonsense(1)		lung(1)	pancreas(2)|ovary(1)	3						c.(568-570)CGA>TGA		LBP-9							154.0	128.0	137.0					2																	122004483		2203	4300	6503	SO:0001587	stop_gained	29842				female pregnancy|steroid biosynthetic process	mitochondrion|nucleolus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr2:122004483G>A	AF198488	CCDS2134.1	2q14	2008-02-05			ENSG00000115112	ENSG00000115112			17925	protein-coding gene	gene with protein product		609785				10644752, 11073954	Standard	NM_014553		Approved	LBP-9, CRTR1	uc002tmx.3	Q9NZI6	OTTHUMG00000131443	ENST00000263707.5:c.568C>T	2.37:g.122004483G>A	ENSP00000263707:p.Arg190*					TFCP2L1_uc010flr.2_Nonsense_Mutation_p.R190*	p.R190*	NM_014553	NP_055368	Q9NZI6	TF2L1_HUMAN			6	661	-	Renal(3;0.01)		190					Q4ZG43	Nonsense_Mutation	SNP	ENST00000263707.5	37	c.568C>T	CCDS2134.1	.	.	.	.	.	.	.	.	.	.	G	38	7.146944	0.98096	.	.	ENSG00000115112	ENST00000263707	.	.	.	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.1667	0.93560	0.0:0.0:1.0:0.0	.	.	.	.	X	190	.	ENSP00000263707:R190X	R	-	1	2	TFCP2L1	121720953	1.000000	0.71417	0.943000	0.38184	0.931000	0.56810	3.989000	0.56958	2.587000	0.87381	0.655000	0.94253	CGA		0.567	TFCP2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338539.1	NM_014553		14	47	0	0	0	0.001855	0	14	47				
CNTNAP5	129684	broad.mit.edu	37	2	125261947	125261947	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr2:125261947C>A	ENST00000431078.1	+	8	1502	c.1138C>A	c.(1138-1140)Ctg>Atg	p.L380M		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	380	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)		p.L380M(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		CTATTTGCTGCTGCCCGGCAC	0.502																																							uc002tno.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(10)	10						c.(1138-1140)CTG>ATG		contactin associated protein-like 5 precursor							80.0	75.0	77.0					2																	125261947		1867	4112	5979	SO:0001583	missense	129684				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr2:125261947C>A	AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.1138C>A	2.37:g.125261947C>A	ENSP00000399013:p.Leu380Met					CNTNAP5_uc010flu.2_Missense_Mutation_p.L381M	p.L380M	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.248)	8	1502	+			380			Laminin G-like 2.|Extracellular (Potential).		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	ENST00000431078.1	37	c.1138C>A	CCDS46401.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.092365	0.76756	.	.	ENSG00000155052	ENST00000431078	T	0.80738	-1.41	5.74	4.84	0.62591	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.189812	0.25270	N	0.031894	D	0.89767	0.6810	M	0.81682	2.555	0.54753	D	0.999986	D	0.76494	0.999	D	0.87578	0.998	D	0.91034	0.4866	10	0.87932	D	0	.	14.9897	0.71377	0.1436:0.8564:0.0:0.0	.	380	Q8WYK1	CNTP5_HUMAN	M	380	ENSP00000399013:L380M	ENSP00000399013:L380M	L	+	1	2	CNTNAP5	124978417	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.614000	0.36911	1.374000	0.46228	0.650000	0.86243	CTG		0.502	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3			24	39	1	0	1.04121e-07	0.005443	1.32189e-07	24	39				
CNTNAP5	129684	broad.mit.edu	37	2	125281974	125281974	+	Silent	SNP	G	G	A	rs372724261		TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr2:125281974G>A	ENST00000431078.1	+	9	1783	c.1419G>A	c.(1417-1419)ccG>ccA	p.P473P		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	473	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)		p.P473P(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		CAGCACCCCCGGCTCCAGACA	0.493																																							uc002tno.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(10)	10						c.(1417-1419)CCG>CCA		contactin associated protein-like 5 precursor		G		1,3939		0,1,1969	54.0	57.0	56.0		1419	-11.6	0.0	2		56	0,8370		0,0,4185	no	coding-synonymous	CNTNAP5	NM_130773.2		0,1,6154	AA,AG,GG		0.0,0.0254,0.0081		473/1307	125281974	1,12309	1970	4185	6155	SO:0001819	synonymous_variant	129684				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr2:125281974G>A	AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.1419G>A	2.37:g.125281974G>A						CNTNAP5_uc010flu.2_Silent_p.P474P	p.P473P	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.248)	9	1783	+			473			Laminin G-like 2.|Extracellular (Potential).		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Silent	SNP	ENST00000431078.1	37	c.1419G>A	CCDS46401.1																																																																																				0.493	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3			11	17	0	0	0	0.008291	0	11	17				
MAP3K2	10746	broad.mit.edu	37	2	128075837	128075837	+	Missense_Mutation	SNP	C	C	G			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr2:128075837C>G	ENST00000409947.1	-	13	1384	c.1102G>C	c.(1102-1104)Gga>Cga	p.G368R	RNU6-1147P_ENST00000363380.1_RNA|MAP3K2_ENST00000344908.5_Missense_Mutation_p.G368R			Q9Y2U5	M3K2_HUMAN	mitogen-activated protein kinase kinase kinase 2	368	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JUN kinase activity (GO:0007257)|activation of MAPK activity (GO:0000187)|cellular response to mechanical stimulus (GO:0071260)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)	p.G368R(1)		central_nervous_system(1)|large_intestine(1)|lung(3)|ovary(2)	7	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0706)	Bosutinib(DB06616)	TAGACCCTTCCAAAGGCTCCT	0.443																																							uc002toj.1		NA																	1	Substitution - Missense(1)		lung(1)	lung(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)	7						c.(1102-1104)GGA>CGA		mitogen-activated protein kinase kinase kinase							78.0	77.0	77.0					2																	128075837		1869	4102	5971	SO:0001583	missense	10746				activation of JUN kinase activity|cellular response to mechanical stimulus	nucleus	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein kinase binding	g.chr2:128075837C>G	AF111105	CCDS46404.1	2q21.1	2011-06-09			ENSG00000169967	ENSG00000169967		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6854	protein-coding gene	gene with protein product	"""MAP/ERK kinase kinase 2"""	609487		MEKK2		8621389, 10085062	Standard	NM_006609		Approved	MEKK2B	uc002toj.2	Q9Y2U5	OTTHUMG00000153397	ENST00000409947.1:c.1102G>C	2.37:g.128075837C>G	ENSP00000387246:p.Gly368Arg						p.G368R	NM_006609	NP_006600	Q9Y2U5	M3K2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0706)	12	1167	-	Colorectal(110;0.1)		368			Protein kinase.|ATP (By similarity).		B9EG87|Q53QL9|Q53S75|Q59GZ6|Q8NC32|Q9NYK3	Missense_Mutation	SNP	ENST00000409947.1	37	c.1102G>C	CCDS46404.1	.	.	.	.	.	.	.	.	.	.	C	32	5.113173	0.94339	.	.	ENSG00000169967	ENST00000409947;ENST00000344908	T;T	0.56611	0.45;0.45	5.55	5.55	0.83447	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.094692	0.64402	D	0.000001	T	0.81781	0.4895	H	0.95679	3.705	0.80722	D	1	D	0.63880	0.993	D	0.74674	0.984	D	0.87000	0.2116	10	0.87932	D	0	.	19.5593	0.95366	0.0:1.0:0.0:0.0	.	368	Q9Y2U5	M3K2_HUMAN	R	368	ENSP00000387246:G368R;ENSP00000343463:G368R	ENSP00000343463:G368R	G	-	1	0	MAP3K2	127792307	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.734000	0.84928	2.613000	0.88420	0.585000	0.79938	GGA		0.443	MAP3K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331014.1	NM_006609		7	50	0	0	0	0.001984	0	7	50				
MYO7B	4648	broad.mit.edu	37	2	128367543	128367543	+	Silent	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr2:128367543G>T	ENST00000409816.2	+	23	3176	c.3144G>T	c.(3142-3144)ctG>ctT	p.L1048L	MYO7B_ENST00000428314.1_Silent_p.L1048L|MYO7B_ENST00000389524.4_Silent_p.L1048L			Q6PIF6	MYO7B_HUMAN	myosin VIIB	1048	MyTH4 1. {ECO:0000255|PROSITE- ProRule:PRU00359}.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.L1048L(2)		breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		ATGACACGCTGGGCAGGGAGC	0.627																																							uc002top.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)|pancreas(1)	2						c.(3142-3144)CTG>CTT		myosin VIIB							31.0	35.0	34.0					2																	128367543		2162	4267	6429	SO:0001819	synonymous_variant	4648					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity	g.chr2:128367543G>T		CCDS46405.1	2q21.1	2011-09-27			ENSG00000169994	ENSG00000169994		"""Myosins / Myosin superfamily : Class VII"""	7607	protein-coding gene	gene with protein product		606541				8022818, 8884266	Standard	NM_001080527		Approved		uc002top.3	Q6PIF6	OTTHUMG00000153419	ENST00000409816.2:c.3144G>T	2.37:g.128367543G>T							p.L1048L	NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0753)	24	3197	+	Colorectal(110;0.1)		1048			MyTH4 1.		Q14786|Q8TEE1	Silent	SNP	ENST00000409816.2	37	c.3144G>T	CCDS46405.1																																																																																				0.627	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331124.3	XM_291001		7	9	1	0	1.06961e-07	0.00308	1.35626e-07	7	9				
MCM6	4175	broad.mit.edu	37	2	136623838	136623838	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr2:136623838G>C	ENST00000264156.2	-	6	851	c.791C>G	c.(790-792)gCa>gGa	p.A264G	MCM6_ENST00000492091.1_5'Flank	NM_005915.5	NP_005906.2	Q14566	MCM6_HUMAN	minichromosome maintenance complex component 6	264					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	MCM complex (GO:0042555)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|identical protein binding (GO:0042802)|single-stranded DNA binding (GO:0003697)	p.A264G(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29				BRCA - Breast invasive adenocarcinoma(221;0.166)		ATTAGTTTCTGCACGTGCTCC	0.413																																					Ovarian(196;141 2104 8848 24991 25939)	Ovarian(196;141 2104 8848 24991 25939)	uc002tuw.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(790-792)GCA>GGA		minichromosome maintenance complex component 6	Atorvastatin(DB01076)						162.0	156.0	158.0					2																	136623838		2203	4300	6503	SO:0001583	missense	4175				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|identical protein binding	g.chr2:136623838G>C		CCDS2179.1	2q14-q21	2008-02-05	2007-04-04		ENSG00000076003	ENSG00000076003			6949	protein-coding gene	gene with protein product	"""MIS5 homolog (S.pombe)"""	601806	"""minichromosome maintenance deficient (mis5, S. pombe) 6"", ""MCM6 minichromosome maintenance deficient 6 (MIS5 homolog, S. pombe) (S. cerevisiae)"", ""minichromosome maintenance deficient 6 homolog (S. cerevisiae)"""				Standard	NM_005915		Approved	Mis5	uc002tuw.4	Q14566	OTTHUMG00000131739	ENST00000264156.2:c.791C>G	2.37:g.136623838G>C	ENSP00000264156:p.Ala264Gly						p.A264G	NM_005915	NP_005906	Q14566	MCM6_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.166)	6	867	-			264					B2R6H2|Q13504|Q99859	Missense_Mutation	SNP	ENST00000264156.2	37	c.791C>G	CCDS2179.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.082427	0.76528	.	.	ENSG00000076003	ENST00000264156	T	0.03524	3.9	6.04	6.04	0.98038	.	0.090652	0.85682	D	0.000000	T	0.08626	0.0214	M	0.69463	2.115	0.80722	D	1	B	0.17852	0.024	B	0.22386	0.039	T	0.17167	-1.0378	10	0.36615	T	0.2	-17.5482	20.5948	0.99439	0.0:0.0:1.0:0.0	.	264	Q14566	MCM6_HUMAN	G	264	ENSP00000264156:A264G	ENSP00000264156:A264G	A	-	2	0	MCM6	136340308	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.408000	0.97327	2.873000	0.98535	0.563000	0.77884	GCA		0.413	MCM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254658.1	NM_005915		5	192	0	0	0	0.001984	0	5	192				
LRP1B	53353	broad.mit.edu	37	2	141291702	141291702	+	Missense_Mutation	SNP	T	T	A	rs189519727	byFrequency	TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr2:141291702T>A	ENST00000389484.3	-	47	8621	c.7650A>T	c.(7648-7650)agA>agT	p.R2550S		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2550					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.R2550S(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TTCGACAGCTTCTGTTTTCTT	0.353										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	Colon(99;50 2074 2507 20106)	uc002tvj.1		NA																	1	Substitution - Missense(1)		lung(1)	lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(7648-7650)AGA>AGT		low density lipoprotein-related protein 1B							44.0	45.0	45.0					2																	141291702		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141291702T>A	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.7650A>T	2.37:g.141291702T>A	ENSP00000374135:p.Arg2550Ser	TSP Lung(27;0.18)					p.R2550S	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	47	8622	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	2550			Extracellular (Potential).		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.7650A>T	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	T	19.87	3.906936	0.72868	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.91295	-2.82	5.42	4.27	0.50696	.	0.000000	0.85682	U	0.000000	D	0.93900	0.8048	M	0.72894	2.215	0.44685	D	0.997673	D	0.89917	1.0	D	0.87578	0.998	D	0.93690	0.7006	10	0.56958	D	0.05	.	10.9782	0.47478	0.0:0.0734:0.0:0.9266	.	2550	Q9NZR2	LRP1B_HUMAN	S	2550;2488	ENSP00000374135:R2550S	ENSP00000374135:R2550S	R	-	3	2	LRP1B	141008172	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	1.683000	0.37638	2.180000	0.69256	0.460000	0.39030	AGA		0.353	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		9	22	0	0	0	0.008291	0	9	22				
ZEB2	9839	broad.mit.edu	37	2	145187456	145187456	+	Missense_Mutation	SNP	A	A	G			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr2:145187456A>G	ENST00000558170.2	-	3	1395	c.211T>C	c.(211-213)Tcc>Ccc	p.S71P	ZEB2_ENST00000539609.3_Missense_Mutation_p.S71P|ZEB2_ENST00000409487.3_Missense_Mutation_p.S71P|ZEB2_ENST00000303660.4_Missense_Mutation_p.S71P	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	71					cell proliferation in forebrain (GO:0021846)|developmental pigmentation (GO:0048066)|hippocampus development (GO:0021766)|melanocyte migration (GO:0097324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of melanosome organization (GO:1903056)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|phosphatase regulator activity (GO:0019208)	p.S71P(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		ACGTGTGGGGAGGACTCATGG	0.522																																					Melanoma(33;1235 1264 5755 16332)	Melanoma(33;1235 1264 5755 16332)	uc002tvu.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)	9						c.(211-213)TCC>CCC		zinc finger homeobox 1b							135.0	115.0	121.0					2																	145187456		2203	4300	6503	SO:0001583	missense	9839					cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding	g.chr2:145187456A>G	AB011141	CCDS2186.1, CCDS54403.1	2q22.3	2013-01-08	2007-02-15	2007-02-15	ENSG00000169554	ENSG00000169554		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	14881	protein-coding gene	gene with protein product	"""SMAD interacting protein 1"""	605802	"""zinc finger homeobox 1b"""	ZFHX1B			Standard	NM_014795		Approved	KIAA0569, SIP-1, SIP1	uc002tvu.3	O60315	OTTHUMG00000131834	ENST00000558170.2:c.211T>C	2.37:g.145187456A>G	ENSP00000454157:p.Ser71Pro					ZEB2_uc002tvv.2_Missense_Mutation_p.S66P|ZEB2_uc010zbm.1_Missense_Mutation_p.S66P|ZEB2_uc010fnp.2_Missense_Mutation_p.S66P|ZEB2_uc010fnq.1_Missense_Mutation_p.S100P|ZEB2_uc002tvw.2_Missense_Mutation_p.S66P	p.S71P	NM_014795	NP_055610	O60315	ZEB2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.112)	3	691	-			71					A0JP09|B7Z2P2|F5H814|Q9UED1	Missense_Mutation	SNP	ENST00000558170.2	37	c.211T>C	CCDS2186.1	.	.	.	.	.	.	.	.	.	.	A	18.42	3.620409	0.66787	.	.	ENSG00000169554	ENST00000392860;ENST00000539609;ENST00000303660;ENST00000409487;ENST00000427902;ENST00000392861;ENST00000409211;ENST00000435831	D;D;D;D;D;D;D	0.83837	-1.77;-1.77;-1.77;-1.77;-1.77;-1.77;-1.77	5.7	4.56	0.56223	.	0.000000	0.85682	D	0.000000	T	0.72269	0.3439	N	0.12746	0.255	0.53688	D	0.999977	P;B;B;B;B	0.42692	0.787;0.001;0.012;0.0;0.0	B;B;B;B;B	0.43990	0.438;0.001;0.009;0.0;0.0	T	0.76708	-0.2860	10	0.66056	D	0.02	-8.1884	11.1156	0.48258	0.9281:0.0:0.0719:0.0	.	71;71;71;71;71	F5H814;B7Z2P2;E7ESP8;A0JP08;O60315	.;.;.;.;ZEB2_HUMAN	P	66;71;71;71;71;71;71;71	ENSP00000443792:S71P;ENSP00000302501:S71P;ENSP00000386854:S71P;ENSP00000395496:S71P;ENSP00000376601:S71P;ENSP00000387256:S71P;ENSP00000400993:S71P	ENSP00000302501:S71P	S	-	1	0	ZEB2	144903926	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.311000	0.65786	2.174000	0.68829	0.528000	0.53228	TCC		0.522	ZEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254778.5	NM_014795		15	60	0	0	0	0.004007	0	15	60				
NEB	4703	broad.mit.edu	37	2	152432208	152432208	+	Splice_Site	SNP	C	C	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr2:152432208C>T	ENST00000172853.10	-	79	12058		c.e79+1		NEB_ENST00000409198.1_Splice_Site|NEB_ENST00000604864.1_Splice_Site|NEB_ENST00000397345.3_Splice_Site|NEB_ENST00000603639.1_Splice_Site|NEB_ENST00000427231.2_Splice_Site			P20929	NEBU_HUMAN	nebulin						muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)	p.?(2)		NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GTAGTACTTACATTGCTCACA	0.423																																							uc010fnx.2		NA																	2	Unknown(2)		lung(2)	ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20						c.e79+1		nebulin isoform 3							221.0	219.0	219.0					2																	152432208		1864	4100	5964	SO:0001630	splice_region_variant	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152432208C>T	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.11910+1G>A	2.37:g.152432208C>T						NEB_uc002txr.2_Splice_Site_p.N393_splice	p.N3970_splice	NM_004543	NP_004534	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	79	12101	-								F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Splice_Site	SNP	ENST00000172853.10	37	c.11910_splice		.	.	.	.	.	.	.	.	.	.	C	27.1	4.803770	0.90623	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000397342;ENST00000413693;ENST00000172853	.	.	.	5.74	5.74	0.90152	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.9145	0.97053	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NEB	152140454	1.000000	0.71417	0.997000	0.53966	0.979000	0.70002	7.455000	0.80726	2.709000	0.92574	0.655000	0.94253	.		0.423	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543	Intron	64	155	0	0	0	0.00361	0	64	155				
GPD2	2820	broad.mit.edu	37	2	157426037	157426037	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr2:157426037G>C	ENST00000310454.6	+	11	1835	c.1463G>C	c.(1462-1464)gGa>gCa	p.G488A	GPD2_ENST00000438166.2_Missense_Mutation_p.G488A|GPD2_ENST00000540309.1_Intron|GPD2_ENST00000409125.4_Missense_Mutation_p.G261A|GPD2_ENST00000409674.1_Missense_Mutation_p.G488A	NM_001083112.2	NP_001076581.2	P43304	GPDM_HUMAN	glycerol-3-phosphate dehydrogenase 2 (mitochondrial)	488					camera-type eye development (GO:0043010)|cellular lipid metabolic process (GO:0044255)|gluconeogenesis (GO:0006094)|glycerol catabolic process (GO:0019563)|glycerol-3-phosphate metabolic process (GO:0006072)|multicellular organism growth (GO:0035264)|small molecule metabolic process (GO:0044281)	glycerol-3-phosphate dehydrogenase complex (GO:0009331)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|glycerol-3-phosphate dehydrogenase activity (GO:0004368)|sn-glycerol-3-phosphate:ubiquinone-8 oxidoreductase activity (GO:0052591)	p.G488A(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|stomach(1)	22						CAGGATTATGGACTTGAAAGC	0.468																																							uc002tzf.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1462-1464)GGA>GCA		glycerol-3-phosphate dehydrogenase 2,							96.0	91.0	93.0					2																	157426037		2203	4299	6502	SO:0001583	missense	2820				cellular lipid metabolic process	glycerol-3-phosphate dehydrogenase complex|mitochondrial inner membrane	calcium ion binding|sn-glycerol-3-phosphate:ubiquinone-8 oxidoreductase activity	g.chr2:157426037G>C		CCDS2202.1	2q24.1	2013-01-10			ENSG00000115159	ENSG00000115159	1.1.1.8	"""EF-hand domain containing"""	4456	protein-coding gene	gene with protein product		138430					Standard	NM_001083112		Approved		uc002tzd.4	P43304	OTTHUMG00000131951	ENST00000310454.6:c.1463G>C	2.37:g.157426037G>C	ENSP00000308610:p.Gly488Ala					GPD2_uc010zch.1_Missense_Mutation_p.G261A|GPD2_uc002tzd.3_Missense_Mutation_p.G488A|GPD2_uc002tze.1_RNA	p.G488A	NM_001083112	NP_001076581	P43304	GPDM_HUMAN			11	1823	+			488					A8K4V0|B3KSA9|Q59FR1|Q9HAP9	Missense_Mutation	SNP	ENST00000310454.6	37	c.1463G>C	CCDS2202.1	.	.	.	.	.	.	.	.	.	.	G	18.80	3.701588	0.68501	.	.	ENSG00000115159	ENST00000310454;ENST00000409125;ENST00000438166;ENST00000409674	T;T;T;T	0.55413	0.52;0.52;0.52;0.52	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.56834	0.2012	M	0.71296	2.17	0.80722	D	1	B	0.06786	0.001	B	0.14023	0.01	T	0.55062	-0.8199	10	0.51188	T	0.08	.	19.2865	0.94077	0.0:0.0:1.0:0.0	.	488	P43304	GPDM_HUMAN	A	488;261;488;488	ENSP00000308610:G488A;ENSP00000386484:G261A;ENSP00000409708:G488A;ENSP00000386425:G488A	ENSP00000308610:G488A	G	+	2	0	GPD2	157134283	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	9.869000	0.99810	2.567000	0.86603	0.557000	0.71058	GGA		0.468	GPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254910.3			12	69	0	0	0	0.001368	0	12	69				
GALNT5	11227	broad.mit.edu	37	2	158142619	158142619	+	Missense_Mutation	SNP	A	A	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr2:158142619A>T	ENST00000259056.4	+	3	2199	c.1714A>T	c.(1714-1716)Agg>Tgg	p.R572W		NM_014568.1	NP_055383.1	Q7Z7M9	GALT5_HUMAN	polypeptide N-acetylgalactosaminyltransferase 5	572	Catalytic subdomain A.				cellular protein metabolic process (GO:0044267)|glycosaminoglycan biosynthetic process (GO:0006024)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.R572W(1)		breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						AATAAGGGCCAGGCTGGCAGG	0.343																																							uc002tzg.2		NA																	1	Substitution - Missense(1)		lung(1)	breast(3)|skin(1)	4						c.(1714-1716)AGG>TGG		N-acetylgalactosaminyltransferase 5							74.0	83.0	80.0					2																	158142619		2203	4300	6503	SO:0001583	missense	11227				glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr2:158142619A>T	AJ245539	CCDS2203.1	2q24.1	2014-03-13	2014-03-13		ENSG00000136542	ENSG00000136542	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4127	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 5"""	615129	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5)"""			10545594	Standard	NM_014568		Approved	GalNAc-T5	uc002tzg.3	Q7Z7M9	OTTHUMG00000131965	ENST00000259056.4:c.1714A>T	2.37:g.158142619A>T	ENSP00000259056:p.Arg572Trp					GALNT5_uc010zci.1_RNA	p.R572W	NM_014568	NP_055383	Q7Z7M9	GALT5_HUMAN			3	1969	+			572			Catalytic subdomain A.|Lumenal (Potential).		A5PKZ1|Q9UGK7|Q9UHL6	Missense_Mutation	SNP	ENST00000259056.4	37	c.1714A>T	CCDS2203.1	.	.	.	.	.	.	.	.	.	.	A	21.1	4.102110	0.76983	.	.	ENSG00000136542	ENST00000259056	T	0.64085	-0.08	5.87	3.41	0.39046	Glycosyl transferase, family 2 (1);	0.000000	0.85682	D	0.000000	D	0.86669	0.5988	H	0.98818	4.34	0.48830	D	0.999712	D	0.89917	1.0	D	0.97110	1.0	D	0.91051	0.4878	10	0.87932	D	0	.	13.331	0.60488	0.6129:0.3871:0.0:0.0	.	572	Q7Z7M9	GALT5_HUMAN	W	572	ENSP00000259056:R572W	ENSP00000259056:R572W	R	+	1	2	GALNT5	157850865	0.980000	0.34600	1.000000	0.80357	0.998000	0.95712	2.181000	0.42547	1.048000	0.40298	0.533000	0.62120	AGG		0.343	GALNT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254925.2	NM_014568		10	31	0	0	0	0.001368	0	10	31				
BAZ2B	29994	broad.mit.edu	37	2	160194283	160194283	+	Splice_Site	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr2:160194283C>A	ENST00000392783.2	-	32	5950	c.5455G>T	c.(5455-5457)Ggt>Tgt	p.G1819C	BAZ2B_ENST00000343439.5_Splice_Site_p.G1719C|BAZ2B_ENST00000355831.2_Splice_Site_p.G1785C|BAZ2B_ENST00000392782.1_Splice_Site_p.G1783C	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1819					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.G1819C(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						CACATCCAACCCTATATATCA	0.368																																							uc002uao.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(5455-5457)GGT>TGT		bromodomain adjacent to zinc finger domain, 2B							65.0	60.0	62.0					2																	160194283		1859	4098	5957	SO:0001630	splice_region_variant	29994				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr2:160194283C>A	AB032255	CCDS2209.2, CCDS74594.1	2q24.2	2013-01-28			ENSG00000123636	ENSG00000123636		"""Zinc fingers, PHD-type"""	963	protein-coding gene	gene with protein product		605683				10662543	Standard	XM_005246488		Approved	WALp4	uc002uao.3	Q9UIF8	OTTHUMG00000132027	ENST00000392783.2:c.5455-1G>T	2.37:g.160194283C>A						BAZ2B_uc002uap.2_Missense_Mutation_p.G1783C	p.G1819C	NM_013450	NP_038478	Q9UIF8	BAZ2B_HUMAN			32	5807	-			1819					D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8	Missense_Mutation	SNP	ENST00000392783.2	37	c.5455G>T	CCDS2209.2	.	.	.	.	.	.	.	.	.	.	C	12.42	1.933917	0.34096	.	.	ENSG00000123636	ENST00000392782;ENST00000392783;ENST00000355831;ENST00000343439;ENST00000426648	T;T;T;T	0.65916	-0.16;-0.12;-0.16;-0.18	5.78	5.78	0.91487	.	0.000000	0.37761	U	0.001958	T	0.80665	0.4666	M	0.73962	2.25	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.992	T	0.81614	-0.0853	10	0.87932	D	0	-15.8062	20.0022	0.97423	0.0:1.0:0.0:0.0	.	1783;1819	Q9UIF8-5;Q9UIF8	.;BAZ2B_HUMAN	C	1783;1819;1785;1719;37	ENSP00000376533:G1783C;ENSP00000376534:G1819C;ENSP00000348087:G1785C;ENSP00000339670:G1719C	ENSP00000339670:G1719C	G	-	1	0	BAZ2B	159902529	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.738000	0.93877	0.655000	0.94253	GGT		0.368	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255037.2		Missense_Mutation	16	52	1	0	0.000422831	0.004007	0.000465661	16	52				
DPP4	1803	broad.mit.edu	37	2	162895493	162895493	+	Missense_Mutation	SNP	T	T	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr2:162895493T>A	ENST00000360534.3	-	7	1018	c.458A>T	c.(457-459)cAg>cTg	p.Q153L		NM_001935.3	NP_001926.2	P27487	DPP4_HUMAN	dipeptidyl-peptidase 4	153					cell adhesion (GO:0007155)|endothelial cell migration (GO:0043542)|negative regulation of extracellular matrix disassembly (GO:0010716)|positive regulation of cell proliferation (GO:0008284)|regulation of cell-cell adhesion mediated by integrin (GO:0033632)|response to hypoxia (GO:0001666)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intercellular canaliculus (GO:0046581)|invadopodium membrane (GO:0071438)|lamellipodium (GO:0030027)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	dipeptidyl-peptidase activity (GO:0008239)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.Q153L(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48					Alogliptin(DB06203)|Atorvastatin(DB01076)|Linagliptin(DB08882)|Liraglutide(DB06655)|Saxagliptin(DB06335)|Sitagliptin(DB01261)|Vildagliptin(DB04876)	TGTGACCCACTGTGTGTTGTT	0.373																																							uc002ubz.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(457-459)CAG>CTG		dipeptidylpeptidase IV	Sitagliptin(DB01261)						102.0	102.0	102.0					2																	162895493		2203	4299	6502	SO:0001583	missense	1803				cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation|T cell costimulation	apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft	aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity	g.chr2:162895493T>A	M74777	CCDS2216.1	2q24.2	2013-09-19	2008-08-01		ENSG00000197635	ENSG00000197635	3.4.14.5	"""CD molecules"""	3009	protein-coding gene	gene with protein product		102720	"""dipeptidylpeptidase IV (CD26, adenosine deaminase complexing protein 2)"", ""adenosine deaminase complexing protein 2"""	CD26, ADCP2		8101391	Standard	NM_001935		Approved	DPPIV	uc002ubz.3	P27487	OTTHUMG00000132056	ENST00000360534.3:c.458A>T	2.37:g.162895493T>A	ENSP00000353731:p.Gln153Leu					DPP4_uc010fpb.2_5'UTR|DPP4_uc002uca.1_RNA|DPP4_uc002ucb.1_RNA	p.Q153L	NM_001935	NP_001926	P27487	DPP4_HUMAN			7	1019	-			153			Extracellular (Potential).		Q53TN1	Missense_Mutation	SNP	ENST00000360534.3	37	c.458A>T	CCDS2216.1	.	.	.	.	.	.	.	.	.	.	T	29.2	4.987526	0.93106	.	.	ENSG00000197635	ENST00000360534	T	0.34275	1.37	6.17	6.17	0.99709	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.59810	0.2221	M	0.76170	2.325	0.80722	D	1	D	0.67145	0.996	D	0.66497	0.944	T	0.63528	-0.6617	10	0.87932	D	0	0.3692	15.3933	0.74767	0.0:0.0:0.0:1.0	.	153	P27487	DPP4_HUMAN	L	153	ENSP00000353731:Q153L	ENSP00000353731:Q153L	Q	-	2	0	DPP4	162603739	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.926000	0.70070	2.371000	0.80710	0.533000	0.62120	CAG		0.373	DPP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255079.2			25	53	0	0	0	0.008361	0	25	53				
SCN1A	6323	broad.mit.edu	37	2	166901690	166901690	+	Nonsense_Mutation	SNP	G	G	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr2:166901690G>A	ENST00000303395.4	-	10	1524	c.1525C>T	c.(1525-1527)Cag>Tag	p.Q509*	SCN1A_ENST00000375405.3_Nonsense_Mutation_p.Q509*|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Nonsense_Mutation_p.Q509*|SCN1A_ENST00000423058.2_Nonsense_Mutation_p.Q509*|AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595268.1_RNA			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	509					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)	p.Q509*(2)		NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CCACCAGACTGCTCTTTCTGT	0.458																																							uc010zcz.1		NA																	2	Substitution - Nonsense(2)		lung(2)	ovary(6)|skin(6)|large_intestine(1)	13						c.(1525-1527)CAG>TAG		sodium channel, voltage-gated, type I, alpha	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)						260.0	263.0	262.0					2																	166901690		2203	4300	6503	SO:0001587	stop_gained	6323					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166901690G>A	AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10585	protein-coding gene	gene with protein product		182389	"""febrile convulsions 3"""	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.1525C>T	2.37:g.166901690G>A	ENSP00000303540:p.Gln509*					SCN1A_uc002udo.3_Nonsense_Mutation_p.Q378*|SCN1A_uc010fpk.2_Nonsense_Mutation_p.Q378*	p.Q509*	NM_006920	NP_008851	P35498	SCN1A_HUMAN			10	1543	-			509					E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Nonsense_Mutation	SNP	ENST00000303395.4	37	c.1525C>T	CCDS54413.1	.	.	.	.	.	.	.	.	.	.	G	38	7.094931	0.98059	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	.	.	.	6.17	6.17	0.99709	.	0.740819	0.12806	N	0.437565	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12766	T	0.61	.	20.4898	0.99202	0.0:0.0:1.0:0.0	.	.	.	.	X	509	.	ENSP00000303540:Q509X	Q	-	1	0	SCN1A	166609936	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.176000	0.77643	2.941000	0.99782	0.655000	0.94253	CAG		0.458	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920		59	240	0	0	0	0.00361	0	59	240				
SCN9A	6335	broad.mit.edu	37	2	167060953	167060953	+	Missense_Mutation	SNP	T	T	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr2:167060953T>A	ENST00000409435.1	-	24	4419	c.4420A>T	c.(4420-4422)Atg>Ttg	p.M1474L	AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000303354.6_Missense_Mutation_p.M1475L|SCN9A_ENST00000409672.1_Missense_Mutation_p.M1463L|SCN9A_ENST00000375387.4_Missense_Mutation_p.M1475L			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1474					behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)	p.M1463L(1)		NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TCTTCTGTCATAAAGATGTCT	0.323																																							uc010fpl.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(6)|central_nervous_system(5)|skin(2)	13						c.(4387-4389)ATG>TTG		sodium channel, voltage-gated, type IX, alpha	Lamotrigine(DB00555)|Lidocaine(DB00281)						67.0	72.0	71.0					2																	167060953		2187	4289	6476	SO:0001583	missense	6335					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167060953T>A	X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10597	protein-coding gene	gene with protein product		603415	"""sodium channel, voltage-gated, type IX, alpha polypeptide"""			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.4420A>T	2.37:g.167060953T>A	ENSP00000386330:p.Met1474Leu					uc002udp.2_Intron	p.M1463L	NM_002977	NP_002968	Q15858	SCN9A_HUMAN			25	4728	-			1474					A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Missense_Mutation	SNP	ENST00000409435.1	37	c.4387A>T	CCDS46441.1	.	.	.	.	.	.	.	.	.	.	T	24.1	4.497873	0.85069	.	.	ENSG00000169432	ENST00000409672;ENST00000375387;ENST00000303354;ENST00000409435	D;D;D;D	0.95069	-3.58;-3.6;-3.6;-3.6	4.34	4.34	0.51931	.	0.000000	0.85682	D	0.000000	D	0.93151	0.7819	M	0.67625	2.065	0.53005	D	0.999968	B	0.23591	0.088	B	0.24974	0.057	D	0.92193	0.5761	10	0.87932	D	0	.	13.846	0.63468	0.0:0.0:0.0:1.0	.	1463	E7EUN6	.	L	1463;1475;1475;1474	ENSP00000386306:M1463L;ENSP00000364536:M1475L;ENSP00000304748:M1475L;ENSP00000386330:M1474L	ENSP00000304748:M1475L	M	-	1	0	SCN9A	166769199	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.837000	0.86796	1.747000	0.51819	0.454000	0.30748	ATG		0.323	SCN9A-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333639.1	NM_002977		6	31	0	0	0	0.001168	0	6	31				
SCN9A	6335	broad.mit.edu	37	2	167168061	167168061	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr2:167168061C>A	ENST00000409435.1	-	1	205	c.206G>T	c.(205-207)gGc>gTc	p.G69V	SCN9A_ENST00000303354.6_Missense_Mutation_p.G69V|SCN9A_ENST00000409672.1_Missense_Mutation_p.G69V|SCN9A_ENST00000375387.4_Missense_Mutation_p.G69V			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	69					behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)	p.G69V(1)		NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TGACACCATGCCGGGAGGAAT	0.483																																							uc010fpl.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(6)|central_nervous_system(5)|skin(2)	13						c.(205-207)GGC>GTC		sodium channel, voltage-gated, type IX, alpha	Lamotrigine(DB00555)|Lidocaine(DB00281)						79.0	87.0	84.0					2																	167168061		2114	4279	6393	SO:0001583	missense	6335					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167168061C>A	X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10597	protein-coding gene	gene with protein product		603415	"""sodium channel, voltage-gated, type IX, alpha polypeptide"""			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.206G>T	2.37:g.167168061C>A	ENSP00000386330:p.Gly69Val						p.G69V	NM_002977	NP_002968	Q15858	SCN9A_HUMAN			2	547	-			69					A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Missense_Mutation	SNP	ENST00000409435.1	37	c.206G>T	CCDS46441.1	.	.	.	.	.	.	.	.	.	.	c	14.57	2.575023	0.45902	.	.	ENSG00000169432	ENST00000409672;ENST00000375387;ENST00000303354;ENST00000409435	D;D;D;D	0.96073	-3.88;-3.9;-3.9;-3.9	5.4	5.4	0.78164	.	0.000000	0.64402	D	0.000008	D	0.97405	0.9151	M	0.88450	2.955	0.50039	D	0.999845	D	0.58620	0.983	P	0.58577	0.841	D	0.97814	1.0252	10	0.72032	D	0.01	.	13.513	0.61524	0.0:0.9227:0.0:0.0773	.	69	E7EUN6	.	V	69	ENSP00000386306:G69V;ENSP00000364536:G69V;ENSP00000304748:G69V;ENSP00000386330:G69V	ENSP00000304748:G69V	G	-	2	0	SCN9A	166876307	0.000000	0.05858	0.988000	0.46212	0.519000	0.34347	0.288000	0.18939	2.533000	0.85409	0.645000	0.84053	GGC		0.483	SCN9A-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333639.1	NM_002977		27	57	1	0	1.17739e-12	0.005443	1.79062e-12	27	57				
XIRP2	129446	broad.mit.edu	37	2	168107344	168107344	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr2:168107344G>A	ENST00000409195.1	+	9	9531	c.9442G>A	c.(9442-9444)Gac>Aac	p.D3148N	XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.D3148N|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.D2926N|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2973					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)		p.D3148N(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CCCTAAAAAGGACAGTTATGT	0.468																																							uc002udx.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(7)|ovary(6)|pancreas(1)	14						c.(9442-9444)GAC>AAC		xin actin-binding repeat containing 2 isoform 1							80.0	77.0	78.0					2																	168107344		1872	4092	5964	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168107344G>A	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.9442G>A	2.37:g.168107344G>A	ENSP00000386840:p.Asp3148Asn					XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.D2973N|XIRP2_uc010fpq.2_Missense_Mutation_p.D2926N|XIRP2_uc010fpr.2_Intron	p.D3148N	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN			8	9460	+			2973					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	c.9442G>A	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	G	0.471	-0.884647	0.02530	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273;ENST00000413534	T;T;T	0.02656	4.21;4.21;4.21	5.88	3.09	0.35607	.	0.758553	0.13334	N	0.395736	T	0.01940	0.0061	N	0.13043	0.29	0.09310	N	1	B;B;B	0.11235	0.003;0.004;0.004	B;B;B	0.11329	0.003;0.006;0.006	T	0.49615	-0.8921	10	0.22706	T	0.39	-3.0705	6.3474	0.21357	0.2265:0.1348:0.6387:0.0	.	2973;2973;2926	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	N	3148;3148;2926;562	ENSP00000386840:D3148N;ENSP00000295237:D3148N;ENSP00000387255:D2926N	ENSP00000295237:D3148N	D	+	1	0	XIRP2	167815590	0.054000	0.20591	0.002000	0.10522	0.004000	0.04260	2.277000	0.43417	0.384000	0.24942	0.557000	0.71058	GAC		0.468	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		23	66	0	0	0	0.00333	0	23	66				
LRP2	4036	broad.mit.edu	37	2	170042416	170042416	+	Silent	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr2:170042416G>T	ENST00000263816.3	-	50	9727	c.9442C>A	c.(9442-9444)Cgg>Agg	p.R3148R		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3148	EGF-like 11. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)	p.R3148R(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	ACACAAGTCCGCTTGTCAGAC	0.468																																							uc002ues.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29						c.(9442-9444)CGG>AGG		low density lipoprotein-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						110.0	108.0	109.0					2																	170042416		2203	4300	6503	SO:0001819	synonymous_variant	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170042416G>T		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.9442C>A	2.37:g.170042416G>T							p.R3148R	NM_004525	NP_004516	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	50	9655	-			3148			EGF-like 11.|Extracellular (Potential).		O00711|Q16215	Silent	SNP	ENST00000263816.3	37	c.9442C>A	CCDS2232.1																																																																																				0.468	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		37	72	1	0	2.05212e-20	0.005524	3.57895e-20	37	72				
DLX1	1745	broad.mit.edu	37	2	172952919	172952919	+	Silent	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr2:172952919C>A	ENST00000361725.4	+	3	1154	c.702C>A	c.(700-702)atC>atA	p.I234I	DLX1_ENST00000341900.6_3'UTR|DLX1_ENST00000550686.1_3'UTR	NM_178120.4	NP_835221.2	P56177	DLX1_HUMAN	distal-less homeobox 1	234					cerebral cortex GABAergic interneuron fate commitment (GO:0021893)|embryonic skeletal system development (GO:0048706)|hippocampus development (GO:0021766)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|odontogenesis of dentin-containing tooth (GO:0042475)|proximal/distal pattern formation (GO:0009954)|regulation of transcription from RNA polymerase II promoter involved in forebrain neuron fate commitment (GO:0021882)|subpallium development (GO:0021544)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)	p.I234I(1)		central_nervous_system(1)|lung(4)|prostate(1)	6			OV - Ovarian serous cystadenocarcinoma(117;0.216)			GCTCCTATATCCCCAGCTACA	0.627																																							uc002uhl.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(700-702)ATC>ATA		distal-less homeobox 1 isoform 1							100.0	109.0	105.0					2																	172952919		2203	4300	6503	SO:0001819	synonymous_variant	1745					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:172952919C>A	BC013010	CCDS2247.2, CCDS33328.1	2q31.1	2011-06-20	2005-12-22		ENSG00000144355	ENSG00000144355		"""Homeoboxes / ANTP class : NKL subclass"""	2914	protein-coding gene	gene with protein product		600029	"""distal-less homeo box 1"""			7907794	Standard	NM_001038493		Approved		uc002uhl.3	P56177	OTTHUMG00000073951	ENST00000361725.4:c.702C>A	2.37:g.172952919C>A						DLX1_uc002uhm.2_3'UTR	p.I234I	NM_178120	NP_835221	P56177	DLX1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.216)		3	900	+			234					D3DPD7|Q53ZU4|Q7Z724|Q8IYB2	Silent	SNP	ENST00000361725.4	37	c.702C>A	CCDS2247.2																																																																																				0.627	DLX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405916.1	XM_087198		29	76	1	0	4.15321e-07	0.009535	5.16372e-07	29	76				
TTN	7273	broad.mit.edu	37	2	179408023	179408023	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr2:179408023G>T	ENST00000591111.1	-	297	91978	c.91754C>A	c.(91753-91755)cCa>cAa	p.P30585Q	TTN_ENST00000460472.2_Missense_Mutation_p.P23161Q|TTN_ENST00000359218.5_Missense_Mutation_p.P23286Q|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P23353Q|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.P32226Q|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P29658Q|RP11-65L3.4_ENST00000604692.1_RNA			Q8WZ42	TITIN_HUMAN	titin	30585	Fibronectin type-III 123. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.P23353Q(1)|p.P23286Q(1)|p.P29656Q(1)|p.P23161Q(1)|p.P29658Q(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATCGTAGAGTGGTTTTTCCCA	0.502																																							uc010zfg.1		NA																	5	Substitution - Missense(5)		lung(5)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(88972-88974)CCA>CAA		titin isoform N2-A							142.0	132.0	135.0					2																	179408023		1928	4129	6057	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179408023G>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.91754C>A	2.37:g.179408023G>T	ENSP00000465570:p.Pro30585Gln					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.P23353Q|TTN_uc010zfi.1_Missense_Mutation_p.P23286Q|TTN_uc010zfj.1_Missense_Mutation_p.P23161Q	p.P29658Q	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		296	89197	-			30585					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.88973C>A		.	.	.	.	.	.	.	.	.	.	G	19.58	3.855046	0.71719	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.74842	-0.88;-0.88;-0.88;-0.88	5.61	5.61	0.85477	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.91580	0.7340	H	0.96576	3.845	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.93705	0.7019	9	0.87932	D	0	.	20.0018	0.97417	0.0:0.0:1.0:0.0	.	23161;23286;23353;30585	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	Q	29658;23161;23353;23286;23158	ENSP00000343764:P29658Q;ENSP00000434586:P23161Q;ENSP00000340554:P23353Q;ENSP00000352154:P23286Q	ENSP00000340554:P23353Q	P	-	2	0	TTN	179116269	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.813000	0.99286	2.793000	0.96121	0.655000	0.94253	CCA		0.502	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		16	100	1	0	4.7546e-09	0.004007	6.3519e-09	16	100				
TTN	7273	broad.mit.edu	37	2	179413591	179413591	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr2:179413591G>C	ENST00000591111.1	-	289	88063	c.87839C>G	c.(87838-87840)aCa>aGa	p.T29280R	TTN_ENST00000460472.2_Missense_Mutation_p.T21856R|TTN_ENST00000359218.5_Missense_Mutation_p.T21981R|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.T22048R|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.T30921R|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.T28353R			Q8WZ42	TITIN_HUMAN	titin	29280					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.T21981R(1)|p.T28351R(1)|p.T21856R(1)|p.T28353R(1)|p.T22048R(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTCAGGAGCTGTTAACCGGTC	0.458																																							uc010zfg.1		NA																	5	Substitution - Missense(5)		lung(5)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(85057-85059)ACA>AGA		titin isoform N2-A							122.0	114.0	116.0					2																	179413591		1959	4157	6116	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179413591G>C	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.87839C>G	2.37:g.179413591G>C	ENSP00000465570:p.Thr29280Arg					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.T22048R|TTN_uc010zfi.1_Missense_Mutation_p.T21981R|TTN_uc010zfj.1_Missense_Mutation_p.T21856R	p.T28353R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		288	85282	-			29280					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.85058C>G		.	.	.	.	.	.	.	.	.	.	G	14.19	2.461831	0.43736	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.62498	0.02;0.24;0.23;0.22	5.25	5.25	0.73442	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.57740	0.2074	L	0.38175	1.15	0.48452	D	0.999653	B;B;B;B	0.27380	0.177;0.177;0.177;0.177	B;B;B;B	0.29267	0.054;0.054;0.1;0.1	T	0.59204	-0.7498	9	0.87932	D	0	.	19.2013	0.93712	0.0:0.0:1.0:0.0	.	21856;21981;22048;29280	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	R	28353;21856;22048;21981;21853	ENSP00000343764:T28353R;ENSP00000434586:T21856R;ENSP00000340554:T22048R;ENSP00000352154:T21981R	ENSP00000340554:T22048R	T	-	2	0	TTN	179121837	1.000000	0.71417	0.992000	0.48379	0.997000	0.91878	9.813000	0.99286	2.611000	0.88343	0.563000	0.77884	ACA		0.458	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		15	59	0	0	0	0.003163	0	15	59				
TTN	7273	broad.mit.edu	37	2	179432942	179432942	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr2:179432942G>T	ENST00000591111.1	-	276	73218	c.72994C>A	c.(72994-72996)Caa>Aaa	p.Q24332K	TTN_ENST00000460472.2_Missense_Mutation_p.Q16908K|TTN_ENST00000359218.5_Missense_Mutation_p.Q17033K|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.Q17100K|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.Q25973K|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.Q23405K			Q8WZ42	TITIN_HUMAN	titin	24332	Fibronectin type-III 76. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.Q17033K(1)|p.Q23403K(1)|p.Q16908K(1)|p.Q17100K(1)|p.Q23405K(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCAAAGCTTTGTCCATATCTG	0.413																																							uc010zfg.1		NA																	5	Substitution - Missense(5)		lung(5)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(70213-70215)CAA>AAA		titin isoform N2-A							168.0	162.0	164.0					2																	179432942		1867	4108	5975	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179432942G>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.72994C>A	2.37:g.179432942G>T	ENSP00000465570:p.Gln24332Lys					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.Q17100K|TTN_uc010zfi.1_Missense_Mutation_p.Q17033K|TTN_uc010zfj.1_Missense_Mutation_p.Q16908K	p.Q23405K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		275	70437	-			24332					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.70213C>A		.	.	.	.	.	.	.	.	.	.	G	11.27	1.590168	0.28357	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.56275	0.47;0.47;0.47;0.47	6.03	5.15	0.70609	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.26666	0.0652	N	0.00855	-1.145	0.31915	N	0.614218	B;B;B;B	0.10296	0.003;0.003;0.003;0.002	B;B;B;B	0.10450	0.005;0.005;0.005;0.004	T	0.30822	-0.9965	9	0.87932	D	0	.	14.4932	0.67665	0.0:0.0:0.7337:0.2663	.	16908;17033;17100;24332	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	K	23405;16908;17100;17033;16906	ENSP00000343764:Q23405K;ENSP00000434586:Q16908K;ENSP00000340554:Q17100K;ENSP00000352154:Q17033K	ENSP00000340554:Q17100K	Q	-	1	0	TTN	179141188	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.044000	0.64214	1.526000	0.49068	0.655000	0.94253	CAA		0.413	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		45	126	1	0	4.0181e-32	0.00361	7.53486e-32	45	126				
TTN	7273	broad.mit.edu	37	2	179434396	179434396	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr2:179434396C>A	ENST00000591111.1	-	276	71764	c.71540G>T	c.(71539-71541)gGa>gTa	p.G23847V	TTN_ENST00000460472.2_Missense_Mutation_p.G16423V|TTN_ENST00000359218.5_Missense_Mutation_p.G16548V|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G16615V|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.G25488V|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G22920V			Q8WZ42	TITIN_HUMAN	titin	23847	Fibronectin type-III 73. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.G16423V(1)|p.G16548V(1)|p.G22920V(1)|p.G22918V(1)|p.G16615V(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCTCCAACTCCAGCTTTATT	0.368																																							uc010zfg.1		NA																	5	Substitution - Missense(5)		lung(5)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(68758-68760)GGA>GTA		titin isoform N2-A							77.0	67.0	70.0					2																	179434396		1891	4112	6003	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179434396C>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.71540G>T	2.37:g.179434396C>A	ENSP00000465570:p.Gly23847Val					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.G16615V|TTN_uc010zfi.1_Missense_Mutation_p.G16548V|TTN_uc010zfj.1_Missense_Mutation_p.G16423V	p.G22920V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		275	68983	-			23847					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.68759G>T		.	.	.	.	.	.	.	.	.	.	C	18.50	3.637614	0.67130	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.62788	-0.0;-0.0;-0.0;-0.0	5.7	5.7	0.88788	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.85890	0.5802	H	0.94183	3.505	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.89223	0.3572	9	0.87932	D	0	.	19.8218	0.96599	0.0:1.0:0.0:0.0	.	16423;16548;16615;23847	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	V	22920;16423;16615;16548;16421	ENSP00000343764:G22920V;ENSP00000434586:G16423V;ENSP00000340554:G16615V;ENSP00000352154:G16548V	ENSP00000340554:G16615V	G	-	2	0	TTN	179142642	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.678000	0.91216	0.655000	0.94253	GGA		0.368	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		8	26	1	0	5.4927e-09	0.004482	7.29032e-09	8	26				
TTN	7273	broad.mit.edu	37	2	179529215	179529216	+	Intron	DNP	GG	GG	TT			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr2:179529215_179529216GG>TT	ENST00000591111.1	-	154	34489				TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.P12084Q|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Intron			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAGCCCTTTGGGGAGGATGCAC	0.411																																							uc010zfk.1		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(688-690)CCC>CAA		SubName: Full=Titin; Flags: Fragment;																																				SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179529215_179529216GG>TT	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.34265_34265delinsTT	2.37:g.179529215_179529216delinsTT						TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron|TTN_uc010fre.1_Intron	p.P230Q			Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		13	1237_1238	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	DNP	ENST00000591111.1	37	c.689_690CC>AA																																																																																					0.411	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		41	107	0	0	0	0.004672	0	41	107				
TTN	7273	broad.mit.edu	37	2	179594234	179594234	+	Nonsense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr2:179594234C>A	ENST00000591111.1	-	62	17922	c.17698G>T	c.(17698-17700)Gag>Tag	p.E5900*	TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Nonsense_Mutation_p.E6217*|RP11-171I2.1_ENST00000590024.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.E4973*			Q8WZ42	TITIN_HUMAN	titin	12696	Ig-like 40.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.E4973*(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CACTCCAGCTCCACGTCACTA	0.448																																							uc010zfg.1		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(14917-14919)GAG>TAG		titin isoform N2-A							119.0	109.0	112.0					2																	179594234		1877	4114	5991	SO:0001587	stop_gained	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179594234C>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.17698G>T	2.37:g.179594234C>A	ENSP00000465570:p.Glu5900*					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Nonsense_Mutation_p.E1634*	p.E4973*	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		61	15141	-			5900					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Nonsense_Mutation	SNP	ENST00000591111.1	37	c.14917G>T		.	.	.	.	.	.	.	.	.	.	C	56	26.539223	0.99969	.	.	ENSG00000155657	ENST00000342992	.	.	.	5.92	4.09	0.47781	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	7.603	0.28087	0.0:0.598:0.2706:0.1314	.	.	.	.	X	4973	.	ENSP00000343764:E4973X	E	-	1	0	TTN	179302479	0.000000	0.05858	1.000000	0.80357	0.955000	0.61496	-0.139000	0.10358	0.799000	0.34018	0.655000	0.94253	GAG		0.448	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		30	69	1	0	2.65835e-16	0.007291	4.39616e-16	30	69				
TTN	7273	broad.mit.edu	37	2	179610535	179610535	+	Intron	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr2:179610535G>T	ENST00000591111.1	-	46	10585				TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000360870.5_Missense_Mutation_p.A5531E|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000582847.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTGAAAATATGCTGCTGTACC	0.428																																							uc002unb.2		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(16591-16593)GCA>GAA		titin isoform novex-3							128.0	127.0	128.0					2																	179610535		2203	4299	6502	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179610535G>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10361-3887C>A	2.37:g.179610535G>T						TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron	p.A5531E	NM_133379	NP_596870	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	16816	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.16592C>A		.	.	.	.	.	.	.	.	.	.	G	16.55	3.153800	0.57259	.	.	ENSG00000155657	ENST00000360870;ENST00000306136	T	0.48836	0.8	6.17	6.17	0.99709	.	.	.	.	.	T	0.79862	0.4519	H	0.95151	3.63	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	D	0.83729	0.0197	9	0.62326	D	0.03	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	5531	Q8WZ42-6	.	E	5531;812	ENSP00000354117:A5531E	ENSP00000304714:A812E	A	-	2	0	TTN	179318780	0.991000	0.36638	0.920000	0.36463	0.550000	0.35303	2.359000	0.44142	2.941000	0.99782	0.655000	0.94253	GCA		0.428	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		17	88	1	0	4.7546e-09	0.004007	6.3519e-09	17	88				
TTN	7273	broad.mit.edu	37	2	179614934	179614934	+	Intron	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr2:179614934G>T	ENST00000591111.1	-	45	10585				TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000360870.5_Missense_Mutation_p.Q4065K|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCTTTTGCTTGGTCAAACACC	0.413																																							uc002unb.2		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(12193-12195)CAA>AAA		titin isoform novex-3							150.0	129.0	136.0					2																	179614934		2203	4299	6502	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179614934G>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10360+2916C>A	2.37:g.179614934G>T						TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron	p.Q4065K	NM_133379	NP_596870	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	12417	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.12193C>A		.	.	.	.	.	.	.	.	.	.	G	0.116	-1.132434	0.01756	.	.	ENSG00000155657	ENST00000360870	T	0.57595	0.39	5.76	3.81	0.43845	.	.	.	.	.	T	0.34600	0.0903	N	0.24115	0.695	0.30666	N	0.753921	B	0.06786	0.001	B	0.09377	0.004	T	0.27536	-1.0071	9	0.16420	T	0.52	.	8.812	0.34974	0.0:0.1328:0.4708:0.3964	.	4065	Q8WZ42-6	.	K	4065	ENSP00000354117:Q4065K	ENSP00000354117:Q4065K	Q	-	1	0	TTN	179323179	1.000000	0.71417	0.410000	0.26471	0.024000	0.10985	1.750000	0.38329	1.533000	0.49186	0.655000	0.94253	CAA		0.413	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		23	53	1	0	1.64293e-13	0.00333	2.55567e-13	23	53				
ITGA4	3676	broad.mit.edu	37	2	182344887	182344887	+	Silent	SNP	A	A	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr2:182344887A>T	ENST00000397033.2	+	6	1078	c.648A>T	c.(646-648)ccA>ccT	p.P216P		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	216					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|cell-matrix adhesion (GO:0007160)|cell-matrix adhesion involved in ameboidal cell migration (GO:0003366)|chorio-allantoic fusion (GO:0060710)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|face development (GO:0060324)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|negative regulation of protein homodimerization activity (GO:0090074)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell migration (GO:0072678)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha4-beta7 complex (GO:0034669)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)	p.P216P(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)|Tinzaparin(DB06822)	TGGGGGCCCCAGGATCATCTT	0.333																																							uc002unu.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6						c.(646-648)CCA>CCT		integrin alpha 4 precursor	Natalizumab(DB00108)						58.0	54.0	56.0					2																	182344887		1789	4050	5839	SO:0001819	synonymous_variant	3676				blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity	g.chr2:182344887A>T		CCDS42788.1	2q31-q32	2010-03-23			ENSG00000115232	ENSG00000115232		"""CD molecules"", ""Integrins"""	6140	protein-coding gene	gene with protein product		192975		CD49D		1537388	Standard	NM_000885		Approved	CD49d	uc002unu.3	P13612	OTTHUMG00000154212	ENST00000397033.2:c.648A>T	2.37:g.182344887A>T						ITGA4_uc010zfl.1_Silent_p.P216P	p.P216P	NM_000885	NP_000876	P13612	ITA4_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0593)		6	1411	+			216			FG-GAP 3.|Extracellular (Potential).		D3DPG4|Q7Z4L6	Silent	SNP	ENST00000397033.2	37	c.648A>T	CCDS42788.1																																																																																				0.333	ITGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334427.1			13	29	0	0	0	0.00245	0	13	29				
DNAJC10	54431	broad.mit.edu	37	2	183586760	183586760	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr2:183586760G>A	ENST00000264065.7	+	5	791	c.376G>A	c.(376-378)Gat>Aat	p.D126N	DNAJC10_ENST00000469118.1_3'UTR|DNAJC10_ENST00000537515.1_Missense_Mutation_p.D126N	NM_018981.1	NP_061854.1	Q8IXB1	DJC10_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 10	126					cell redox homeostasis (GO:0045454)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of ATPase activity (GO:0032781)|protein folding in endoplasmic reticulum (GO:0034975)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum chaperone complex (GO:0034663)|endoplasmic reticulum lumen (GO:0005788)|membrane (GO:0016020)	ATPase activator activity (GO:0001671)|ATPase binding (GO:0051117)|chaperone binding (GO:0051087)|disulfide oxidoreductase activity (GO:0015036)|Hsp70 protein binding (GO:0030544)|misfolded protein binding (GO:0051787)|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor (GO:0016671)|protein disulfide oxidoreductase activity (GO:0015035)	p.D126N(1)		breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			aGGTATTTATGATGATGATCC	0.244																																					Pancreas(56;860 1183 25669 35822 48585)	Pancreas(56;860 1183 25669 35822 48585)	uc002uow.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|large_intestine(1)|breast(1)|skin(1)	4						c.(376-378)GAT>AAT		DnaJ (Hsp40) homolog, subfamily C, member 10							55.0	60.0	59.0					2																	183586760		2201	4286	6487	SO:0001583	missense	54431				apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|ER-associated protein catabolic process|glycerol ether metabolic process|negative regulation of protein phosphorylation|protein folding|response to endoplasmic reticulum stress	endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|extracellular region	ATPase activator activity|ATPase binding|chaperone binding|electron carrier activity|heat shock protein binding|misfolded protein binding|protein disulfide oxidoreductase activity|unfolded protein binding	g.chr2:183586760G>A		CCDS33345.1, CCDS74613.1	2q32.1	2011-11-23			ENSG00000077232	ENSG00000077232		"""Heat shock proteins / DNAJ (HSP40)"", ""Protein disulfide isomerases"""	24637	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 19"""	607987				12411443, 12446677	Standard	NM_018981		Approved	ERdj5, PDIA19	uc002uow.2	Q8IXB1	OTTHUMG00000154209	ENST00000264065.7:c.376G>A	2.37:g.183586760G>A	ENSP00000264065:p.Asp126Asn					DNAJC10_uc002uox.1_RNA|DNAJC10_uc002uoy.1_RNA|DNAJC10_uc002uoz.1_Missense_Mutation_p.D126N|DNAJC10_uc010fro.1_RNA	p.D126N	NM_018981	NP_061854	Q8IXB1	DJC10_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)		5	791	+			126					Q17RJ6|Q3B7W8|Q4ZG06|Q53QT7|Q6UWZ6|Q86T61|Q8NC82|Q8TD87|Q96K38|Q96K44|Q96K54|Q9NSY6	Missense_Mutation	SNP	ENST00000264065.7	37	c.376G>A	CCDS33345.1	.	.	.	.	.	.	.	.	.	.	G	34	5.375170	0.95923	.	.	ENSG00000077232	ENST00000264065;ENST00000392392;ENST00000537410;ENST00000537515	T;T	0.39229	1.09;1.09	5.86	5.86	0.93980	Thioredoxin-like fold (3);	0.000000	0.85682	D	0.000000	T	0.67078	0.2855	M	0.72118	2.19	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.66666	-0.5866	10	0.72032	D	0.01	.	20.5632	0.99335	0.0:0.0:1.0:0.0	.	126;126	Q8IXB1-2;Q8IXB1	.;DJC10_HUMAN	N	126	ENSP00000264065:D126N;ENSP00000441560:D126N	ENSP00000264065:D126N	D	+	1	0	DNAJC10	183295005	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.422000	0.97458	2.937000	0.99478	0.650000	0.86243	GAT		0.244	DNAJC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334418.2	NM_018981		11	52	0	0	0	0.008291	0	11	52				
ZC3H15	55854	broad.mit.edu	37	2	187371499	187371499	+	Silent	SNP	A	A	G			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr2:187371499A>G	ENST00000337859.6	+	9	1253	c.1026A>G	c.(1024-1026)gtA>gtG	p.V342V		NM_018471.2	NP_060941.2	Q8WU90	ZC3HF_HUMAN	zinc finger CCCH-type containing 15	342			V -> E (in dbSNP:rs11555006).	V -> A (in Ref. 2; AAF28981). {ECO:0000305}.	cytokine-mediated signaling pathway (GO:0019221)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.V342V(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	15			OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Epithelial(96;0.0922)|all cancers(119;0.233)			CAAGAGATGTAGATGAAACAG	0.318																																							uc002upo.2		NA																	1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(1024-1026)GTA>GTG		erythropoietin 4 immediate early response							135.0	128.0	130.0					2																	187371499		1857	4099	5956	SO:0001819	synonymous_variant	55854					cytoplasm|nucleolus|plasma membrane	nucleic acid binding|zinc ion binding	g.chr2:187371499A>G		CCDS42791.1	2q32.1	2012-07-05			ENSG00000065548	ENSG00000065548		"""Zinc fingers, CCCH-type domain containing"""	29528	protein-coding gene	gene with protein product	"""likely ortholog of mouse immediate early response, erythropoietin 4"""					10880228	Standard	NM_018471		Approved	LEREPO4	uc002upo.3	Q8WU90	OTTHUMG00000154251	ENST00000337859.6:c.1026A>G	2.37:g.187371499A>G							p.V342V	NM_018471	NP_060941	Q8WU90	ZC3HF_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Epithelial(96;0.0922)|all cancers(119;0.233)		9	1251	+			342	V -> A (in Ref. 2; AAF28981).				B4DMW2|D3DPG7|Q5QTQ4|Q8WZ06|Q9NUZ3|Q9NZ37|Q9P079	Silent	SNP	ENST00000337859.6	37	c.1026A>G	CCDS42791.1																																																																																				0.318	ZC3H15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334547.2	NM_018471		41	71	0	0	0	0.007835	0	41	71				
DIRC1	116093	broad.mit.edu	37	2	189599535	189599535	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr2:189599535G>C	ENST00000308100.4	-	2	383	c.113C>G	c.(112-114)cCc>cGc	p.P38R	AC079613.1_ENST00000431708.1_RNA	NM_052952.2	NP_443184.1	Q969H9	DIRC1_HUMAN	disrupted in renal carcinoma 1	38								p.P38R(1)		large_intestine(1)|lung(6)	7			OV - Ovarian serous cystadenocarcinoma(117;0.00842)|Epithelial(96;0.102)			TATACACATGGGGTGGGCATT	0.473																																							uc002uqi.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(112-114)CCC>CGC		disrupted in renal carcinoma 1							133.0	127.0	129.0					2																	189599535		2203	4300	6503	SO:0001583	missense	116093							g.chr2:189599535G>C	AY039011	CCDS2296.1	2q33	2008-05-22			ENSG00000174325	ENSG00000174325			15760	protein-coding gene	gene with protein product		606423				11587072	Standard	NM_052952		Approved		uc002uqi.1	Q969H9	OTTHUMG00000132646	ENST00000308100.4:c.113C>G	2.37:g.189599535G>C	ENSP00000307860:p.Pro38Arg						p.P38R	NM_052952	NP_443184	Q969H9	DIRC1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00842)|Epithelial(96;0.102)		2	384	-			38					Q08AK1	Missense_Mutation	SNP	ENST00000308100.4	37	c.113C>G	CCDS2296.1	.	.	.	.	.	.	.	.	.	.	G	7.938	0.742047	0.15642	.	.	ENSG00000174325	ENST00000308100	T	0.33865	1.39	3.32	-3.26	0.05064	.	.	.	.	.	T	0.14141	0.0342	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.19910	-1.0291	9	0.87932	D	0	.	0.3141	0.00292	0.262:0.141:0.2178:0.3791	.	38	Q969H9	DIRC1_HUMAN	R	38	ENSP00000307860:P38R	ENSP00000307860:P38R	P	-	2	0	DIRC1	189307780	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-1.539000	0.02202	-0.727000	0.04888	-0.152000	0.13540	CCC		0.473	DIRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255897.2	NM_052952		26	96	0	0	0	0.00632	0	26	96				
COL3A1	1281	broad.mit.edu	37	2	189868867	189868867	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr2:189868867C>A	ENST00000304636.3	+	39	2991	c.2821C>A	c.(2821-2823)Cca>Aca	p.P941T	COL3A1_ENST00000317840.5_Intron	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	941	Triple-helical region.				aging (GO:0007568)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell-matrix adhesion (GO:0007160)|cellular response to amino acid stimulus (GO:0071230)|cerebral cortex development (GO:0021987)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|digestive tract development (GO:0048565)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of immune response (GO:0050777)|negative regulation of neuron migration (GO:2001223)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|positive regulation of Rho protein signal transduction (GO:0035025)|response to cytokine (GO:0034097)|response to mechanical stimulus (GO:0009612)|response to radiation (GO:0009314)|skeletal system development (GO:0001501)|skin development (GO:0043588)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	collagen type III trimer (GO:0005586)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)	p.P941T(1)		NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)	CCAGGGCCCACCAGTAAGTAA	0.448																																							uc002uqj.1		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(7)|ovary(4)|large_intestine(2)	13						c.(2821-2823)CCA>ACA		collagen type III alpha 1 preproprotein	Collagenase(DB00048)|Palifermin(DB00039)						28.0	34.0	32.0					2																	189868867		2202	4299	6501	SO:0001583	missense	1281				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding	g.chr2:189868867C>A	X15332	CCDS2297.1	2q32.2	2014-09-17	2008-06-23		ENSG00000168542	ENSG00000168542		"""Collagens"""	2201	protein-coding gene	gene with protein product		120180	"""Ehlers-Danlos syndrome type IV, autosomal dominant"""	EDS4A		2780304, 2834369	Standard	NM_000090		Approved		uc002uqj.1	P02461	OTTHUMG00000132648	ENST00000304636.3:c.2821C>A	2.37:g.189868867C>A	ENSP00000304408:p.Pro941Thr						p.P941T	NM_000090	NP_000081	P02461	CO3A1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		39	2938	+			941			Triple-helical region.		D2JYH5|D3DPH4|P78429|Q15112|Q16403|Q53S91|Q541P8|Q6LDB3|Q6LDJ2|Q6LDJ3|Q7KZ56|Q8N6U4|Q9UC88|Q9UC89|Q9UC90|Q9UC91|R4N3C5|V9GZI1	Missense_Mutation	SNP	ENST00000304636.3	37	c.2821C>A	CCDS2297.1	.	.	.	.	.	.	.	.	.	.	C	10.63	1.403938	0.25291	.	.	ENSG00000168542	ENST00000304636	D	0.96073	-3.9	5.63	4.75	0.60458	.	0.000000	0.51477	D	0.000099	D	0.93041	0.7785	M	0.76433	2.335	0.25848	N	0.983979	P	0.38922	0.651	B	0.30401	0.115	D	0.87578	0.2482	10	0.45353	T	0.12	.	10.7112	0.45984	0.1433:0.61:0.2467:0.0	.	941	P02461	CO3A1_HUMAN	T	941	ENSP00000304408:P941T	ENSP00000304408:P941T	P	+	1	0	COL3A1	189577112	0.000000	0.05858	0.980000	0.43619	0.087000	0.18053	0.434000	0.21494	1.361000	0.45981	0.643000	0.83706	CCA		0.448	COL3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255899.3	NM_000090		9	27	1	0	1.76689e-08	0.006214	2.29449e-08	9	27				
COL5A2	1290	broad.mit.edu	37	2	189917528	189917528	+	Splice_Site	SNP	C	C	G			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr2:189917528C>G	ENST00000374866.3	-	40	2936	c.2662G>C	c.(2662-2664)Ggt>Cgt	p.G888R		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	888					axon guidance (GO:0007411)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|negative regulation of endodermal cell differentiation (GO:1903225)|skeletal system development (GO:0001501)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)	p.G888R(1)		NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			CCATTAGGACCCTGAATAGAA	0.423																																							uc002uqk.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(2662-2664)GGT>CGT		alpha 2 type V collagen preproprotein							93.0	96.0	95.0					2																	189917528		2203	4300	6503	SO:0001630	splice_region_variant	1290				axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent	g.chr2:189917528C>G	Y14690	CCDS33350.1	2q14-q32	2014-09-17			ENSG00000204262	ENSG00000204262		"""Collagens"""	2210	protein-coding gene	gene with protein product	"""AB collagen"""	120190				1572660	Standard	NM_000393		Approved		uc002uqk.3	P05997	OTTHUMG00000149842	ENST00000374866.3:c.2662-1G>C	2.37:g.189917528C>G						COL5A2_uc010frx.2_Missense_Mutation_p.G464R	p.G888R	NM_000393	NP_000384	P05997	CO5A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)		40	2937	-			888					P78440|Q13908|Q53WR4|Q59GR4|Q6LDJ5|Q7KZ55|Q86XF6|Q96QB0|Q96QB3	Missense_Mutation	SNP	ENST00000374866.3	37	c.2662G>C	CCDS33350.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.188619	0.78789	.	.	ENSG00000204262	ENST00000374866;ENST00000452536	D	0.99353	-5.77	5.47	5.47	0.80525	.	0.000000	0.56097	D	0.000040	D	0.99691	0.9883	H	0.97758	4.07	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.97110	0.999;1.0	D	0.97493	1.0055	9	.	.	.	.	19.6979	0.96034	0.0:1.0:0.0:0.0	.	528;888	Q5PR22;P05997	.;CO5A2_HUMAN	R	888;528	ENSP00000364000:G888R	.	G	-	1	0	COL5A2	189625773	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	7.709000	0.84645	2.728000	0.93425	0.591000	0.81541	GGT		0.423	COL5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313523.1	NM_000393	Missense_Mutation	7	46	0	0	0	0.00308	0	7	46				
STK17B	9262	broad.mit.edu	37	2	197002295	197002295	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr2:197002295C>T	ENST00000263955.4	-	8	1281	c.995G>A	c.(994-996)gGa>gAa	p.G332E	STK17B_ENST00000409228.1_Missense_Mutation_p.G332E	NM_004226.3	NP_004217.1	O94768	ST17B_HUMAN	serine/threonine kinase 17b	332					apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|positive regulation of fibroblast apoptotic process (GO:2000271)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.G332E(1)		breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(10)	15			OV - Ovarian serous cystadenocarcinoma(117;0.141)			ACCACAGGTTCCATTACAGGA	0.418																																							uc002utk.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(2)	2						c.(994-996)GGA>GAA		serine/threonine kinase 17B							136.0	139.0	138.0					2																	197002295		2203	4300	6503	SO:0001583	missense	9262				apoptosis|induction of apoptosis|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr2:197002295C>T	AB011421	CCDS2315.1	2q33.1	2008-02-05	2007-02-12		ENSG00000081320	ENSG00000081320			11396	protein-coding gene	gene with protein product	"""death-associated protein kinase-related 2"""	604727	"""serine/threonine kinase 17b (apoptosis-inducing)"""			9786912	Standard	NM_004226		Approved	DRAK2	uc002utk.3	O94768	OTTHUMG00000132735	ENST00000263955.4:c.995G>A	2.37:g.197002295C>T	ENSP00000263955:p.Gly332Glu					STK17B_uc010fsh.2_Missense_Mutation_p.G332E	p.G332E	NM_004226	NP_004217	O94768	ST17B_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.141)		8	1319	-			332						Missense_Mutation	SNP	ENST00000263955.4	37	c.995G>A	CCDS2315.1	.	.	.	.	.	.	.	.	.	.	C	19.36	3.812767	0.70912	.	.	ENSG00000081320	ENST00000263955;ENST00000409228	T;T	0.66280	-0.2;-0.2	4.84	4.84	0.62591	.	0.000000	0.49305	D	0.000148	T	0.66761	0.2822	N	0.19112	0.55	0.46396	D	0.999027	D	0.89917	1.0	D	0.71656	0.974	T	0.71553	-0.4558	10	0.66056	D	0.02	.	16.2963	0.82776	0.0:1.0:0.0:0.0	.	332	O94768	ST17B_HUMAN	E	332	ENSP00000263955:G332E;ENSP00000386853:G332E	ENSP00000263955:G332E	G	-	2	0	STK17B	196710540	0.986000	0.35501	0.974000	0.42286	0.855000	0.48748	2.452000	0.44961	2.520000	0.84964	0.650000	0.86243	GGA		0.418	STK17B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256092.2			32	78	0	0	0	0.002096	0	32	78				
ANKRD44	91526	broad.mit.edu	37	2	197943539	197943540	+	Splice_Site	DNP	CT	CT	TG			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	CT	CT	-	-	CT	CT	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr2:197943539_197943540CT>TG	ENST00000328737.2	-	16	1540		c.e16-1		ANKRD44_ENST00000337207.5_Splice_Site|ANKRD44_ENST00000539527.1_Splice_Site|ANKRD44_ENST00000282272.8_Splice_Site|ANKRD44_ENST00000450567.1_Splice_Site|ANKRD44_ENST00000409153.1_Splice_Site|ANKRD44_ENST00000477852.1_5'Flank			Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44									p.?(3)		NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			CTCTAGACATCTGTAAGTATAA	0.371																																							uc002uua.1		NA																	3	Unknown(3)		lung(3)	ovary(4)|skin(1)	5						c.e16-1		ankyrin repeat domain 44																																				SO:0001630	splice_region_variant	91526						protein binding	g.chr2:197943539_197943540CT>TG	AK097086	CCDS33355.1, CCDS33355.2, CCDS74619.1	2q33.1	2013-01-10			ENSG00000065413	ENSG00000065413		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"", ""Ankyrin repeat domain containing"""	25259	protein-coding gene	gene with protein product	"""protein phosphatase 6 ankyrin repeat subunit B"""						Standard	NM_153697		Approved	PP6-ARS-B	uc021vuj.1	Q8N8A2	OTTHUMG00000154411	ENST00000328737.2:c.1464_1464delinsTG	2.37:g.197943539_197943540delinsTG						ANKRD44_uc002utz.3_Splice_Site_p.L220_splice|ANKRD44_uc002uub.2_Intron|ANKRD44_uc010zgw.1_Intron	p.L488_splice	NM_153697	NP_710181	Q8N8A2	ANR44_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.246)		16	1541	-								Q53SL9|Q6P480|Q86VL5|Q8IZ72|Q9UFA4	Splice_Site	DNP	ENST00000328737.2	37	c.1464_splice																																																																																					0.371	ANKRD44-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000335113.1	NM_153697	Intron	8	21	0	0	0	0.004672	0	8	21				
PLCL1	5334	broad.mit.edu	37	2	198950287	198950287	+	Silent	SNP	G	G	T	rs144487956	byFrequency	TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr2:198950287G>T	ENST00000428675.1	+	2	2444	c.2046G>T	c.(2044-2046)acG>acT	p.T682T	PLCL1_ENST00000437704.2_Silent_p.T584T	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	682	PI-PLC Y-box. {ECO:0000255|PROSITE- ProRule:PRU00271}.				gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|inositol 1,4,5 trisphosphate binding (GO:0070679)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)	p.T682T(1)|p.T584T(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	ACCTTCACACGGGCTGGTTTC	0.443													G|||	33	0.00658946	0.0008	0.0	5008	,	,		18692	0.004		0.0	False		,,,				2504	0.0286						uc010fsp.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)|skin(1)	2						c.(2044-2046)ACG>ACT		RecName: Full=Inactive phospholipase C-like protein 1;          Short=PLC-L1; AltName: Full=Phospholipase C-deleted in lung carcinoma; AltName: Full=Phospholipase C-related but catalytically inactive protein;          Short=PRIP;	Quinacrine(DB01103)						69.0	70.0	69.0					2																	198950287		2203	4299	6502	SO:0001819	synonymous_variant	5334				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr2:198950287G>T	D42108	CCDS2326.1, CCDS2326.2	2q33	2014-06-13	2002-02-18	2002-02-22	ENSG00000115896	ENSG00000115896			9063	protein-coding gene	gene with protein product	"""phospholipase C related, but catalytically inactive protein"", ""protein phosphatase 1, regulatory subunit 127"""	600597	"""phospholipase C, epsilon"""	PLCE		7633416	Standard	NM_006226		Approved	PLC-L, PLCL, PRIP, PPP1R127	uc010fsp.3	Q15111	OTTHUMG00000132750	ENST00000428675.1:c.2046G>T	2.37:g.198950287G>T						PLCL1_uc002uuv.3_Silent_p.T603T	p.T682T	NM_001114661	NP_001108133	Q15111	PLCL1_HUMAN			2	2337	+			682			PI-PLC Y-box.		Q3MJ90|Q53SD3|Q7Z3S3	Silent	SNP	ENST00000428675.1	37	c.2046G>T	CCDS2326.2																																																																																				0.443	PLCL1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340210.1	NM_006226		13	96	1	0	1.36491e-13	0.001855	2.13293e-13	13	96				
MAP2	4133	broad.mit.edu	37	2	210574774	210574774	+	Silent	SNP	C	C	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr2:210574774C>T	ENST00000360351.4	+	12	5375	c.4869C>T	c.(4867-4869)ccC>ccT	p.P1623P	MAP2_ENST00000361559.4_Silent_p.P267P|MAP2_ENST00000392194.1_Silent_p.P267P|MAP2_ENST00000447185.1_Silent_p.P1619P|MAP2_ENST00000475600.1_3'UTR|MAP2_ENST00000199940.6_Silent_p.P324P	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	1623					axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)	p.P324P(1)|p.P1623P(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	CTAGCTATCCCAGGACCCCTC	0.572																																					Pancreas(27;423 979 28787 29963)	Pancreas(27;423 979 28787 29963)	uc002vde.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(9)|upper_aerodigestive_tract(2)|large_intestine(2)|pancreas(2)|central_nervous_system(1)|skin(1)	17						c.(4867-4869)CCC>CCT		microtubule-associated protein 2 isoform 1	Estramustine(DB01196)						121.0	114.0	116.0					2																	210574774		2203	4300	6503	SO:0001819	synonymous_variant	4133				central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity	g.chr2:210574774C>T		CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"""A-kinase anchor proteins"""	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.4869C>T	2.37:g.210574774C>T						MAP2_uc002vdd.1_Silent_p.P324P|MAP2_uc002vdf.1_Silent_p.P267P|MAP2_uc002vdg.1_Silent_p.P267P|MAP2_uc002vdh.1_Silent_p.P324P|MAP2_uc002vdi.1_Silent_p.P1619P	p.P1623P	NM_002374	NP_002365	P11137	MAP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	12	5117	+		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)	1623					Q17S04|Q8IUX2|Q99975|Q99976	Silent	SNP	ENST00000360351.4	37	c.4869C>T	CCDS2384.1																																																																																				0.572	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256521.2	NM_001039538		3	74	0	0	0	0.004672	0	3	74				
ERBB4	2066	broad.mit.edu	37	2	212248511	212248511	+	Silent	SNP	G	G	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr2:212248511G>A	ENST00000342788.4	-	28	4066	c.3756C>T	c.(3754-3756)acC>acT	p.T1252T	ERBB4_ENST00000402597.1_Silent_p.T1242T|ERBB4_ENST00000436443.1_Silent_p.T1236T	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	1252					cardiac muscle tissue regeneration (GO:0061026)|cell fate commitment (GO:0045165)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system morphogenesis (GO:0021551)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory bulb interneuron differentiation (GO:0021889)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell migration (GO:0030334)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transcription regulatory region DNA binding (GO:0044212)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.T1252T(1)		NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	Afatinib(DB08916)	GGTGCTGAAGGGTGCTCCGAG	0.493										TSP Lung(8;0.080)																													uc002veg.1		NA																	1	Substitution - coding silent(1)		lung(1)	lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	33						c.(3754-3756)ACC>ACT		v-erb-a erythroblastic leukemia viral oncogene							176.0	163.0	167.0					2																	212248511		2203	4300	6503	SO:0001819	synonymous_variant	2066				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr2:212248511G>A	L07868	CCDS2394.1, CCDS42811.1	2q33.3-q34	2013-10-11	2013-07-09		ENSG00000178568	ENSG00000178568			3432	protein-coding gene	gene with protein product		600543	"""v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4"""			7700649, 17018285	Standard	NM_001042599		Approved	ALS19	uc002veg.1	Q15303	OTTHUMG00000133012	ENST00000342788.4:c.3756C>T	2.37:g.212248511G>A		TSP Lung(8;0.080)				ERBB4_uc002veh.1_Silent_p.T1236T|ERBB4_uc010zji.1_Silent_p.T1242T|ERBB4_uc010zjj.1_Silent_p.T1226T	p.T1252T	NM_005235	NP_005226	Q15303	ERBB4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	28	3854	-		Renal(323;0.06)|Lung NSC(271;0.197)	1252			Cytoplasmic (Potential).		B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Silent	SNP	ENST00000342788.4	37	c.3756C>T	CCDS2394.1																																																																																				0.493	ERBB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256597.1	NM_001042599		21	63	0	0	0	0.00333	0	21	63				
ERBB4	2066	broad.mit.edu	37	2	212530091	212530091	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr2:212530091G>T	ENST00000342788.4	-	15	2138	c.1828C>A	c.(1828-1830)Cca>Aca	p.P610T	ERBB4_ENST00000402597.1_Missense_Mutation_p.P610T|ERBB4_ENST00000436443.1_Missense_Mutation_p.P610T	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	610	Cys-rich.				cardiac muscle tissue regeneration (GO:0061026)|cell fate commitment (GO:0045165)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system morphogenesis (GO:0021551)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory bulb interneuron differentiation (GO:0021889)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell migration (GO:0030334)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transcription regulatory region DNA binding (GO:0044212)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.P610T(1)		NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	Afatinib(DB08916)	TCCCGATCTGGATCAGCATAC	0.468										TSP Lung(8;0.080)																													uc002veg.1		NA																	1	Substitution - Missense(1)		lung(1)	lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	33						c.(1828-1830)CCA>ACA		v-erb-a erythroblastic leukemia viral oncogene							166.0	146.0	153.0					2																	212530091		2203	4300	6503	SO:0001583	missense	2066				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr2:212530091G>T	L07868	CCDS2394.1, CCDS42811.1	2q33.3-q34	2013-10-11	2013-07-09		ENSG00000178568	ENSG00000178568			3432	protein-coding gene	gene with protein product		600543	"""v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4"""			7700649, 17018285	Standard	NM_001042599		Approved	ALS19	uc002veg.1	Q15303	OTTHUMG00000133012	ENST00000342788.4:c.1828C>A	2.37:g.212530091G>T	ENSP00000342235:p.Pro610Thr	TSP Lung(8;0.080)				ERBB4_uc002veh.1_Missense_Mutation_p.P610T|ERBB4_uc010zji.1_Missense_Mutation_p.P610T|ERBB4_uc010zjj.1_Missense_Mutation_p.P610T|ERBB4_uc010fut.1_Missense_Mutation_p.P610T	p.P610T	NM_005235	NP_005226	Q15303	ERBB4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	15	1926	-		Renal(323;0.06)|Lung NSC(271;0.197)	610			Extracellular (Potential).|Cys-rich.		B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Missense_Mutation	SNP	ENST00000342788.4	37	c.1828C>A	CCDS2394.1	.	.	.	.	.	.	.	.	.	.	G	10.46	1.357524	0.24598	.	.	ENSG00000178568	ENST00000342788;ENST00000436443;ENST00000402597	T;T;T	0.39592	1.07;1.07;1.07	5.56	5.56	0.83823	Growth factor, receptor (1);	0.298284	0.36200	N	0.002735	T	0.19127	0.0459	N	0.01809	-0.71	0.23016	N	0.998423	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.01281	0.0;0.0;0.0;0.0;0.0	T	0.11867	-1.0570	10	0.23891	T	0.37	.	14.0562	0.64769	0.0:0.2716:0.7284:0.0	.	610;610;469;610;610	Q15303-4;Q15303-2;Q53QS8;Q15303-3;Q15303	.;.;.;.;ERBB4_HUMAN	T	610	ENSP00000342235:P610T;ENSP00000403204:P610T;ENSP00000385565:P610T	ENSP00000342235:P610T	P	-	1	0	ERBB4	212238336	1.000000	0.71417	0.999000	0.59377	0.919000	0.55068	2.617000	0.46385	2.632000	0.89209	0.655000	0.94253	CCA		0.468	ERBB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256597.1	NM_001042599		20	65	1	0	1.96292e-10	0.010504	2.75943e-10	20	65				
IKZF2	22807	broad.mit.edu	37	2	213914437	213914437	+	Splice_Site	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr2:213914437C>A	ENST00000434687.1	-	6	883	c.574G>T	c.(574-576)Gtg>Ttg	p.V192L	IKZF2_ENST00000342002.2_Splice_Site_p.V198L|IKZF2_ENST00000374319.4_Splice_Site_p.V166L|IKZF2_ENST00000451136.2_Splice_Site_p.V166L|IKZF2_ENST00000413091.3_Splice_Site_p.V192L|IKZF2_ENST00000457361.1_Splice_Site_p.V192L|IKZF2_ENST00000374327.4_Intron|IKZF2_ENST00000421754.2_Splice_Site_p.V166L			Q9UKS7	IKZF2_HUMAN	IKAROS family zinc finger 2 (Helios)	192					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.V192L(1)		NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		TGACACTTACCAGAATGGGTC	0.428																																							uc002vem.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(574-576)GTG>TTG		helios isoform 1							95.0	87.0	90.0					2																	213914437		2203	4300	6503	SO:0001630	splice_region_variant	22807				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr2:213914437C>A	AF130863	CCDS2395.1, CCDS46507.1	2q13.1	2013-01-08	2006-08-25	2006-08-25	ENSG00000030419	ENSG00000030419		"""Zinc fingers, C2H2-type"", ""IKAROS zinc fingers"""	13177	protein-coding gene	gene with protein product		606234	"""zinc finger protein, subfamily 1A, 2 (Helios)"""	ZNFN1A2		9512513, 9560339	Standard	NM_001079526		Approved	Helios	uc002vem.3	Q9UKS7	OTTHUMG00000133005	ENST00000434687.1:c.574+1G>T	2.37:g.213914437C>A						IKZF2_uc010fuu.2_Intron|IKZF2_uc002vej.2_Missense_Mutation_p.V139L|IKZF2_uc002vek.2_RNA|IKZF2_uc010fuv.2_Missense_Mutation_p.V166L|IKZF2_uc002vel.2_Missense_Mutation_p.V113L|IKZF2_uc010fuw.2_5'UTR|IKZF2_uc010fux.2_5'UTR|IKZF2_uc010fuy.2_Missense_Mutation_p.V166L|IKZF2_uc002ven.2_Missense_Mutation_p.V166L	p.V192L	NM_016260	NP_057344	Q9UKS7	IKZF2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)	5	743	-		Esophageal squamous(248;0.0559)|Renal(323;0.218)	192					Q53YJ5|Q6PQC5|Q6PQC6|Q6PQC7|Q6PQC8|Q6PQD0|Q6PQD1|Q8N6S1	Missense_Mutation	SNP	ENST00000434687.1	37	c.574G>T	CCDS2395.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.891744	0.91889	.	.	ENSG00000030419	ENST00000457361;ENST00000342002;ENST00000434687;ENST00000374319;ENST00000451136;ENST00000421754;ENST00000413091	T;T;T;T;T;T;T	0.20332	2.08;2.08;2.08;2.08;3.36;2.08;2.08	6.03	6.03	0.97812	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000004	T	0.35998	0.0951	L	0.27053	0.805	0.80722	D	1	D;D;D;D	0.64830	0.99;0.99;0.994;0.99	D;D;D;D	0.73380	0.98;0.98;0.96;0.949	T	0.01578	-1.1320	9	.	.	.	-3.9612	20.5568	0.99304	0.0:1.0:0.0:0.0	.	166;166;166;192	C9JCG7;C9JTM9;Q9UKS7-2;Q9UKS7	.;.;.;IKZF2_HUMAN	L	192;198;192;166;166;166;192	ENSP00000410447:V192L;ENSP00000342876:V198L;ENSP00000412869:V192L;ENSP00000363439:V166L;ENSP00000395203:V166L;ENSP00000399574:V166L;ENSP00000402334:V192L	.	V	-	1	0	IKZF2	213622682	1.000000	0.71417	1.000000	0.80357	0.339000	0.28857	7.757000	0.85209	2.861000	0.98227	0.655000	0.94253	GTG;GTG;GTG;GTG;GTA;GTG;GTG		0.428	IKZF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256593.3	NM_016260	Missense_Mutation	22	58	1	0	4.26978e-12	0.00333	6.3426e-12	22	58				
PNKD	25953	broad.mit.edu	37	2	219204767	219204767	+	Missense_Mutation	SNP	C	C	G			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr2:219204767C>G	ENST00000273077.4	+	4	419	c.368C>G	c.(367-369)cCc>cGc	p.P123R	PNKD_ENST00000258362.3_Missense_Mutation_p.P99R|PNKD_ENST00000436005.2_Missense_Mutation_p.P63R|AC021016.8_ENST00000411433.1_RNA	NM_015488.4	NP_056303.3	Q8N490	PNKD_HUMAN	paroxysmal nonkinesigenic dyskinesia	123					glutathione biosynthetic process (GO:0006750)|neuromuscular process controlling posture (GO:0050884)|regulation of dopamine metabolic process (GO:0042053)|regulation of synaptic transmission, dopaminergic (GO:0032225)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	hydroxyacylglutathione hydrolase activity (GO:0004416)|zinc ion binding (GO:0008270)	p.P123R(1)		NS(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	10		Renal(207;0.0474)		Epithelial(149;7.33e-07)|all cancers(144;0.000133)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AAGGTGCTTCCCATCCCTGTC	0.647																																							uc002vhn.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(367-369)CCC>CGC		myofibrillogenesis regulator 1 isoform 1							84.0	66.0	72.0					2																	219204767		2203	4300	6503	SO:0001583	missense	25953					membrane|mitochondrion|nucleus	hydroxyacylglutathione hydrolase activity|zinc ion binding	g.chr2:219204767C>G		CCDS2411.1, CCDS2413.1, CCDS42816.1	2q35	2011-01-21	2007-07-12		ENSG00000127838	ENSG00000127838			9153	protein-coding gene	gene with protein product	"""myofibrillogenesis regulator 1"""	609023	"""paroxysmal nonkinesiogenic dyskinesia"""			8659518	Standard	NM_015488		Approved	DYT8, PDC, DKFZp564N1362, FPD1, MR-1, BRP17, FKSG19, TAHCCP2, KIAA1184, KIPP1184, MGC31943, PKND1	uc002vhn.3	Q8N490	OTTHUMG00000133110	ENST00000273077.4:c.368C>G	2.37:g.219204767C>G	ENSP00000273077:p.Pro123Arg					PNKD_uc002vhq.2_Missense_Mutation_p.P99R	p.P123R	NM_015488	NP_056303	Q8N490	PNKD_HUMAN		Epithelial(149;7.33e-07)|all cancers(144;0.000133)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	4	512	+		Renal(207;0.0474)	123					A8K1F2|Q96A48|Q9BU26|Q9NSX4|Q9ULN6|Q9Y4T1	Missense_Mutation	SNP	ENST00000273077.4	37	c.368C>G	CCDS2411.1	.	.	.	.	.	.	.	.	.	.	C	19.11	3.763821	0.69878	.	.	ENSG00000127838	ENST00000273077;ENST00000258362;ENST00000436005	D;D;D	0.95656	-3.77;-3.77;-3.77	4.98	4.11	0.48088	.	0.000000	0.85682	D	0.000000	D	0.95185	0.8439	L	0.29908	0.895	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.994;0.999	D	0.92980	0.6405	10	0.22706	T	0.39	-18.5822	13.0876	0.59151	0.0:0.9211:0.0:0.0789	.	99;123	Q8N490-3;Q8N490	.;PNKD_HUMAN	R	123;99;63	ENSP00000273077:P123R;ENSP00000258362:P99R;ENSP00000414400:P63R	ENSP00000258362:P99R	P	+	2	0	PNKD	218913011	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.932000	0.75869	1.085000	0.41206	0.561000	0.74099	CCC		0.647	PNKD-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256775.2			19	40	0	0	0	0.008871	0	19	40				
ANKZF1	55139	broad.mit.edu	37	2	220098546	220098546	+	Missense_Mutation	SNP	A	A	C			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr2:220098546A>C	ENST00000323348.5	+	8	1103	c.929A>C	c.(928-930)aAg>aCg	p.K310T	ANKZF1_ENST00000409849.1_Missense_Mutation_p.K100T|ANKZF1_ENST00000410034.3_Missense_Mutation_p.K310T|GLB1L_ENST00000497855.1_5'Flank	NM_018089.2	NP_060559.2	Q9H8Y5	ANKZ1_HUMAN	ankyrin repeat and zinc finger domain containing 1	310						membrane (GO:0016020)	metal ion binding (GO:0046872)	p.K310T(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	23		Renal(207;0.0474)		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TTTGGAGGCAAGGGAGCACCC	0.622																																							uc002vkg.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(928-930)AAG>ACG		ankyrin repeat and zinc finger domain containing							66.0	71.0	70.0					2																	220098546		1937	4128	6065	SO:0001583	missense	55139					intracellular	zinc ion binding	g.chr2:220098546A>C	AF364318	CCDS42821.1, CCDS63129.1	2q35	2013-01-10			ENSG00000163516	ENSG00000163516		"""Zinc fingers, C2H2-type"", ""Ankyrin repeat domain containing"""	25527	protein-coding gene	gene with protein product						12477932	Standard	NM_018089		Approved	FLJ10415, ZNF744	uc002vkg.3	Q9H8Y5	OTTHUMG00000154533	ENST00000323348.5:c.929A>C	2.37:g.220098546A>C	ENSP00000321617:p.Lys310Thr					ANKZF1_uc010zkv.1_Missense_Mutation_p.K254T|ANKZF1_uc010zkw.1_Missense_Mutation_p.K100T|ANKZF1_uc002vkh.2_Missense_Mutation_p.K100T|ANKZF1_uc002vki.2_Missense_Mutation_p.K310T|ANKZF1_uc002vkj.1_Missense_Mutation_p.K298T	p.K310T	NM_018089	NP_060559	Q9H8Y5	ANKZ1_HUMAN		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	8	1103	+		Renal(207;0.0474)	310					Q9NVZ4	Missense_Mutation	SNP	ENST00000323348.5	37	c.929A>C	CCDS42821.1	.	.	.	.	.	.	.	.	.	.	A	14.19	2.460713	0.43736	.	.	ENSG00000163516	ENST00000323348;ENST00000409849;ENST00000410034	T;T;T	0.29142	1.58;1.78;1.58	5.13	1.76	0.24704	.	0.515337	0.23112	N	0.051783	T	0.20088	0.0483	L	0.28192	0.835	0.25477	N	0.987779	B;P;B	0.38767	0.095;0.646;0.057	B;B;B	0.41571	0.032;0.36;0.014	T	0.09079	-1.0691	10	0.49607	T	0.09	0.5691	4.137	0.10176	0.3943:0.1871:0.4186:0.0	.	254;100;310	B4DZT1;B4E0V1;Q9H8Y5	.;.;ANKZ1_HUMAN	T	310;100;310	ENSP00000321617:K310T;ENSP00000386815:K100T;ENSP00000386337:K310T	ENSP00000321617:K310T	K	+	2	0	ANKZF1	219806790	0.125000	0.22332	0.952000	0.39060	0.986000	0.74619	0.716000	0.25836	0.114000	0.18032	0.533000	0.62120	AAG		0.622	ANKZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335790.1	NM_018089		16	54	0	0	0	0.006122	0	16	54				
NYAP2	57624	broad.mit.edu	37	2	226446931	226446931	+	Silent	SNP	C	C	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr2:226446931C>T	ENST00000272907.6	+	4	1211	c.798C>T	c.(796-798)gcC>gcT	p.A266A	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	NYAP2_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	266					neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)			p.A266A(1)									AGAGCGAGGCCGTCTACGAGG	0.562																																							uc002voe.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(796-798)GCC>GCT		hypothetical protein LOC57624							122.0	131.0	128.0					2																	226446931		2082	4201	6283	SO:0001819	synonymous_variant	57624							g.chr2:226446931C>T	AB040919	CCDS46529.1	2q36.3	2011-11-30	2011-11-30	2011-11-30	ENSG00000144460	ENSG00000144460			29291	protein-coding gene	gene with protein product		615478	"""KIAA1486"""	KIAA1486		10819331, 21946561	Standard	NM_020864		Approved		uc002voe.2	Q9P242	OTTHUMG00000153450	ENST00000272907.6:c.798C>T	2.37:g.226446931C>T						KIAA1486_uc010fxa.1_Intron|KIAA1486_uc002vof.1_Silent_p.A36A	p.A266A	NM_020864	NP_065915	Q9P242	K1486_HUMAN		Epithelial(121;6.73e-10)|all cancers(144;4.32e-07)|Lung(261;0.0161)|LUSC - Lung squamous cell carcinoma(224;0.0223)	4	973	+		Renal(207;0.0112)|all_lung(227;0.0477)|Lung NSC(271;0.0644)|all_hematologic(139;0.101)|Esophageal squamous(248;0.129)	266					A2RRN4|Q96NL2	Silent	SNP	ENST00000272907.6	37	c.798C>T	CCDS46529.1																																																																																				0.562	NYAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331258.1	NM_020864		41	87	0	0	0	0.00623	0	41	87				
COL4A3	1285	broad.mit.edu	37	2	228119376	228119376	+	Missense_Mutation	SNP	T	T	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr2:228119376T>A	ENST00000396578.3	+	15	995	c.833T>A	c.(832-834)cTg>cAg	p.L278Q	AC097662.2_ENST00000606119.1_RNA|AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000437673.1_RNA|AC097662.2_ENST00000396588.2_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	278	Triple-helical region.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|blood circulation (GO:0008015)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|collagen catabolic process (GO:0030574)|endothelial cell apoptotic process (GO:0072577)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|sensory perception of sound (GO:0007605)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metalloendopeptidase inhibitor activity (GO:0008191)|structural molecule activity (GO:0005198)	p.L278Q(2)		NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		ATACAGGGACTGCCTGGAGAA	0.373																																							uc002vom.1		NA																	2	Substitution - Missense(2)		lung(2)	skin(2)|ovary(1)	3						c.(832-834)CTG>CAG		alpha 3 type IV collagen isoform 1 precursor							86.0	86.0	86.0					2																	228119376		1830	4086	5916	SO:0001583	missense	1285				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity	g.chr2:228119376T>A		CCDS42829.1	2q36-q37	2014-09-17			ENSG00000169031	ENSG00000169031		"""Collagens"""	2204	protein-coding gene	gene with protein product	"""tumstatin"""	120070				1737849	Standard	NM_000091		Approved		uc002vom.2	Q01955	OTTHUMG00000149891	ENST00000396578.3:c.833T>A	2.37:g.228119376T>A	ENSP00000379823:p.Leu278Gln					COL4A3_uc002von.1_Missense_Mutation_p.L278Q|COL4A3_uc002voo.1_Missense_Mutation_p.L278Q|COL4A3_uc002vop.1_Missense_Mutation_p.L278Q|uc002voq.1_Intron|uc002vor.1_Intron	p.L278Q	NM_000091	NP_000082	Q01955	CO4A3_HUMAN		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)	15	995	+		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)	278			Triple-helical region.		Q53QQ1|Q53R14|Q53RW8|Q9BQT2|Q9NYC4|Q9UDJ9|Q9UDK9|Q9UDL0|Q9UDL1	Missense_Mutation	SNP	ENST00000396578.3	37	c.833T>A	CCDS42829.1	.	.	.	.	.	.	.	.	.	.	T	10.88	1.474287	0.26423	.	.	ENSG00000169031	ENST00000396578;ENST00000328380;ENST00000335583;ENST00000396574;ENST00000315699	D	0.93604	-3.25	5.61	1.29	0.21616	.	0.350107	0.24547	N	0.037583	D	0.90082	0.6902	L	0.33485	1.01	0.09310	N	1	D;D;D;D	0.71674	0.998;0.998;0.994;0.99	P;P;P;P	0.62560	0.904;0.862;0.903;0.802	T	0.80683	-0.1273	10	0.10636	T	0.68	.	2.8961	0.05691	0.1986:0.471:0.0:0.3304	.	278;278;278;278	Q01955-5;Q01955-4;Q01955-2;Q01955	.;.;.;CO4A3_HUMAN	Q	278	ENSP00000379823:L278Q	ENSP00000323334:L278Q	L	+	2	0	COL4A3	227827620	0.000000	0.05858	0.248000	0.24265	0.398000	0.30690	-0.156000	0.10100	0.710000	0.31997	-0.248000	0.11899	CTG		0.373	COL4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331409.2	NM_000091		28	70	0	0	0	0.007291	0	28	70				
SPHKAP	80309	broad.mit.edu	37	2	228882763	228882763	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr2:228882763G>C	ENST00000392056.3	-	7	2853	c.2807C>G	c.(2806-2808)aCg>aGg	p.T936R	SPHKAP_ENST00000344657.5_Missense_Mutation_p.T936R	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	936	PKA-RII subunit binding domain. {ECO:0000250}.					extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)	p.T936R(2)		NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GGAGACGACCGTGTCTGCTAA	0.473																																							uc002vpq.2		NA																	2	Substitution - Missense(2)		lung(2)	skin(5)|ovary(4)|lung(1)	10						c.(2806-2808)ACG>AGG		sphingosine kinase type 1-interacting protein							177.0	159.0	165.0					2																	228882763		2203	4300	6503	SO:0001583	missense	80309					cytoplasm	protein binding	g.chr2:228882763G>C		CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"""A-kinase anchor proteins"""	30619	protein-coding gene	gene with protein product	"""sphingosine kinase type 1-interacting protein"""	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.2807C>G	2.37:g.228882763G>C	ENSP00000375909:p.Thr936Arg					SPHKAP_uc002vpp.2_Missense_Mutation_p.T936R|SPHKAP_uc010zlx.1_Missense_Mutation_p.T936R	p.T936R	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)	7	2854	-		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)	936			PKA-RII subunit binding domain (By similarity).		Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	ENST00000392056.3	37	c.2807C>G	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	G	15.09	2.731152	0.48939	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.25912	1.79;1.77	6.08	5.18	0.71444	.	0.044191	0.85682	D	0.000000	T	0.49115	0.1538	M	0.72894	2.215	0.58432	D	0.999997	D;D	0.76494	0.999;0.999	D;D	0.73380	0.945;0.98	T	0.49735	-0.8908	10	0.51188	T	0.08	.	13.6707	0.62422	0.0763:0.0:0.9237:0.0	.	936;936	Q2M3C7;Q2M3C7-2	SPKAP_HUMAN;.	R	936	ENSP00000375909:T936R;ENSP00000339886:T936R	ENSP00000339886:T936R	T	-	2	0	SPHKAP	228591007	1.000000	0.71417	0.897000	0.35233	0.273000	0.26683	7.275000	0.78548	1.520000	0.48965	0.655000	0.94253	ACG		0.473	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623		21	124	0	0	0	0.010504	0	21	124				
COL6A3	1293	broad.mit.edu	37	2	238287867	238287867	+	Missense_Mutation	SNP	T	T	C			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr2:238287867T>C	ENST00000295550.4	-	6	2361	c.1909A>G	c.(1909-1911)Aaa>Gaa	p.K637E	COL6A3_ENST00000346358.4_Intron|COL6A3_ENST00000392004.3_Missense_Mutation_p.K431E|COL6A3_ENST00000392003.2_Missense_Mutation_p.K230E|COL6A3_ENST00000347401.3_Missense_Mutation_p.K436E|COL6A3_ENST00000409809.1_Missense_Mutation_p.K431E|COL6A3_ENST00000472056.1_Intron|COL6A3_ENST00000353578.4_Missense_Mutation_p.K431E	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	637	Nonhelical region.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.K431E(1)|p.K637E(1)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		ATATCCCTTTTGTTTGAGTGA	0.418																																							uc002vwl.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18						c.(1909-1911)AAA>GAA		alpha 3 type VI collagen isoform 1 precursor							52.0	53.0	52.0					2																	238287867		2203	4300	6503	SO:0001583	missense	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238287867T>C	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.1909A>G	2.37:g.238287867T>C	ENSP00000295550:p.Lys637Glu					COL6A3_uc002vwo.2_Missense_Mutation_p.K431E|COL6A3_uc010znj.1_Intron|COL6A3_uc002vwq.2_Missense_Mutation_p.K431E|COL6A3_uc002vwr.2_Missense_Mutation_p.K230E|COL6A3_uc010znk.1_Intron	p.K637E	NM_004369	NP_004360	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	6	2194	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	637			Nonhelical region.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	c.1909A>G	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	T	14.76	2.632723	0.47049	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000409809;ENST00000392004;ENST00000392003	T;T;T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16;-1.16;-1.16	5.52	4.35	0.52113	von Willebrand factor, type A (1);	0.391517	0.21137	U	0.079549	T	0.80019	0.4547	L	0.52573	1.65	0.80722	D	1	B;B;D;B	0.54964	0.302;0.275;0.969;0.004	B;B;P;B	0.56960	0.097;0.184;0.81;0.004	T	0.74987	-0.3476	10	0.23891	T	0.37	.	11.5416	0.50669	0.0:0.0:0.2853:0.7147	.	230;431;431;637	A8MT30;E9PGQ9;P12111-2;P12111	.;.;.;CO6A3_HUMAN	E	637;436;431;431;431;230	ENSP00000295550:K637E;ENSP00000315609:K436E;ENSP00000315873:K431E;ENSP00000386844:K431E;ENSP00000375861:K431E;ENSP00000375860:K230E	ENSP00000295550:K637E	K	-	1	0	COL6A3	237952606	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	0.714000	0.25808	0.903000	0.36546	0.533000	0.62120	AAA		0.418	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		7	57	0	0	0	0.00308	0	7	57				
OR6B3	150681	broad.mit.edu	37	2	240985276	240985276	+	Missense_Mutation	SNP	A	A	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr2:240985276A>T	ENST00000319423.4	-	1	213	c.214T>A	c.(214-216)Tgg>Agg	p.W72R	PRR21_ENST00000408934.1_5'Flank	NM_173351.1	NP_775486.1	Q8NGW1	OR6B3_HUMAN	olfactory receptor, family 6, subfamily B, member 3	72						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.W72R(2)		endometrium(1)|large_intestine(10)|lung(4)|ovary(2)|prostate(1)	18		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;1.05e-29)|all cancers(36;3.52e-28)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)|Colorectal(34;0.019)|COAD - Colon adenocarcinoma(134;0.141)		GACACGTACCAGATCTCTAGG	0.557																																							uc010zoe.1		NA																	2	Substitution - Missense(2)		large_intestine(1)|lung(1)		0						c.(214-216)TGG>AGG		olfactory receptor, family 6, subfamily B,							109.0	114.0	113.0					2																	240985276		2098	4217	6315	SO:0001583	missense	150681				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr2:240985276A>T		CCDS42837.1	2q37.3	2013-09-23	2002-11-13	2002-11-15	ENSG00000178586	ENSG00000178586		"""GPCR / Class A : Olfactory receptors"""	15042	protein-coding gene	gene with protein product			"""olfactory receptor, family 6, subfamily B, member 3 pseudogene"""	OR6B3P			Standard	NM_173351		Approved	OR6B3Q	uc010zoe.2	Q8NGW1	OTTHUMG00000152399	ENST00000319423.4:c.214T>A	2.37:g.240985276A>T	ENSP00000322435:p.Trp72Arg					PRR21_uc010zod.1_5'Flank	p.W72R	NM_173351	NP_775486	Q8NGW1	OR6B3_HUMAN		Epithelial(121;1.05e-29)|all cancers(36;3.52e-28)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)|Colorectal(34;0.019)|COAD - Colon adenocarcinoma(134;0.141)	1	214	-		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)	72			Helical; Name=2; (Potential).		Q6IFH3	Missense_Mutation	SNP	ENST00000319423.4	37	c.214T>A	CCDS42837.1	.	.	.	.	.	.	.	.	.	.	A	13.81	2.349314	0.41599	.	.	ENSG00000178586	ENST00000319423	T	0.00700	5.82	3.96	3.96	0.45880	GPCR, rhodopsin-like superfamily (1);	0.324871	0.22613	N	0.057805	T	0.03520	0.0101	M	0.81112	2.525	0.25789	N	0.984644	D	0.89917	1.0	D	0.72338	0.977	T	0.11690	-1.0577	10	0.72032	D	0.01	.	7.681	0.28513	0.7848:0.2152:0.0:0.0	.	72	Q8NGW1	OR6B3_HUMAN	R	72	ENSP00000322435:W72R	ENSP00000322435:W72R	W	-	1	0	OR6B3	240633949	0.002000	0.14202	0.999000	0.59377	0.698000	0.40448	1.040000	0.30278	2.000000	0.58554	0.413000	0.27773	TGG		0.557	OR6B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326078.1			20	66	0	0	0	0.00278	0	20	66				
AQP12B	653437	broad.mit.edu	37	2	241622087	241622087	+	Silent	SNP	C	C	G	rs201173715		TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr2:241622087C>G	ENST00000407834.3	-	1	230	c.168G>C	c.(166-168)acG>acC	p.T56T		NM_001102467.1	NP_001095937.1	A6NM10	AQ12B_HUMAN	aquaporin 12B	44						integral component of membrane (GO:0016021)	transporter activity (GO:0005215)	p.T56T(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|lung(8)|ovary(1)	13		all_epithelial(40;1.71e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;2.2e-31)|all cancers(36;1.08e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.52e-06)|Lung(119;0.00163)|LUSC - Lung squamous cell carcinoma(224;0.008)|Colorectal(34;0.0124)|COAD - Colon adenocarcinoma(134;0.0757)		GCTCGACCAGCGTCCTCATCT	0.701																																							uc010fzj.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(166-168)ACG>ACC		aquaporin 12B							46.0	49.0	48.0					2																	241622087		2203	4300	6503	SO:0001819	synonymous_variant	653437					integral to membrane	transporter activity	g.chr2:241622087C>G	BC041460	CCDS46560.1	2q37.3	2007-12-14	2005-05-26	2005-05-26	ENSG00000185176	ENSG00000185176		"""Ion channels / Aquaporins"""	6096	protein-coding gene	gene with protein product			"""insulin synthesis associated 3"""	INSSA3			Standard	NM_001102467		Approved		uc010fzj.3	A6NM10	OTTHUMG00000152263	ENST00000407834.3:c.168G>C	2.37:g.241622087C>G						AQP12B_uc002vzt.2_Intron	p.T56T	NM_001102467	NP_001095937	A6NM10	AQ12B_HUMAN		Epithelial(32;2.2e-31)|all cancers(36;1.08e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.52e-06)|Lung(119;0.00163)|LUSC - Lung squamous cell carcinoma(224;0.008)|Colorectal(34;0.0124)|COAD - Colon adenocarcinoma(134;0.0757)	1	231	-		all_epithelial(40;1.71e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	44					A4QPB9	Silent	SNP	ENST00000407834.3	37	c.168G>C	CCDS46560.1																																																																																				0.701	AQP12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325625.1			6	43	0	0	0	0.001168	0	6	43				
SIRPG	55423	broad.mit.edu	37	20	1629708	1629708	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr20:1629708C>A	ENST00000303415.3	-	2	484	c.420G>T	c.(418-420)atG>atT	p.M140I	SIRPG_ENST00000216927.4_Missense_Mutation_p.M140I|RP11-77C3.3_ENST00000456177.1_RNA|SIRPG_ENST00000381580.1_Missense_Mutation_p.M107I|SIRPG_ENST00000344103.4_Missense_Mutation_p.M140I|SIRPG_ENST00000381583.2_Missense_Mutation_p.M140I	NM_018556.3	NP_061026.2	Q9P1W8	SIRPG_HUMAN	signal-regulatory protein gamma	140					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell activation (GO:0050870)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.M140I(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						CACCCAAAGCCATCTCAGTGC	0.488																																							uc002wfm.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(418-420)ATG>ATT		signal-regulatory protein gamma isoform 1							196.0	175.0	182.0					20																	1629708		2203	4300	6503	SO:0001583	missense	55423				blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation	integral to membrane|intracellular|plasma membrane	protein binding	g.chr20:1629708C>A	AB042624	CCDS13020.2, CCDS13021.2, CCDS33434.1	20p13	2013-01-11	2006-02-03	2006-02-03	ENSG00000089012	ENSG00000089012		"""Signal-regulatory proteins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C1-set domain containing"""	15757	protein-coding gene	gene with protein product		605466	"""signal-regulatory protein beta 2"""	SIRPB2		11185750, 16339511	Standard	XM_005260749		Approved	bA77C3.1, SIRP-B2, SIRPgamma, CD172g	uc002wfm.1	Q9P1W8	OTTHUMG00000031680	ENST00000303415.3:c.420G>T	20.37:g.1629708C>A	ENSP00000305529:p.Met140Ile					SIRPG_uc002wfn.1_Missense_Mutation_p.M140I|SIRPG_uc002wfo.1_Missense_Mutation_p.M140I	p.M140I	NM_018556	NP_061026	Q9P1W8	SIRPG_HUMAN			2	485	-			140			Extracellular (Potential).		B1AKP6|Q5D051|Q5JV25|Q5MKL4|Q8WWA5|Q9NQK8	Missense_Mutation	SNP	ENST00000303415.3	37	c.420G>T	CCDS13020.2	.	.	.	.	.	.	.	.	.	.	.	8.466	0.856445	0.17106	.	.	ENSG00000089012	ENST00000381580;ENST00000344103;ENST00000303415;ENST00000381583;ENST00000216927	T;T;T;T;T	0.02050	4.48;4.48;4.48;4.48;4.48	1.93	-0.421	0.12332	Immunoglobulin-like fold (1);	1.375360	0.04810	N	0.435133	T	0.01489	0.0048	N	0.08118	0	0.09310	N	1	B;B;B	0.20780	0.039;0.005;0.048	B;B;B	0.20184	0.016;0.007;0.028	T	0.47328	-0.9126	10	0.35671	T	0.21	.	3.7494	0.08561	0.0:0.4317:0.3593:0.2091	.	140;140;140	Q9P1W8-3;Q9P1W8-4;Q9P1W8	.;.;SIRPG_HUMAN	I	107;140;140;140;140	ENSP00000370992:M107I;ENSP00000342759:M140I;ENSP00000305529:M140I;ENSP00000370995:M140I;ENSP00000216927:M140I	ENSP00000216927:M140I	M	-	3	0	SIRPG	1577708	0.007000	0.16637	0.004000	0.12327	0.199000	0.23934	0.170000	0.16663	-0.062000	0.13088	0.195000	0.17529	ATG		0.488	SIRPG-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077566.2	NM_018556		23	85	1	0	3.28513e-13	0.003954	5.05632e-13	23	85				
FASTKD5	60493	broad.mit.edu	37	20	3127960	3127960	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr20:3127960C>A	ENST00000380266.3	-	2	2078	c.1757G>T	c.(1756-1758)cGa>cTa	p.R586L	UBOX5_ENST00000348031.2_Intron|UBOX5-AS1_ENST00000446537.1_RNA|UBOX5_ENST00000217173.2_Intron	NM_021826.4	NP_068598.1	Q7L8L6	FAKD5_HUMAN	FAST kinase domains 5	586					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)	p.R586L(1)		breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2)	19						GTCAGAAGATCGGGTATGAGG	0.448																																							uc002whz.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1756-1758)CGA>CTA		FAST kinase domains 5							68.0	76.0	74.0					20																	3127960		2202	4300	6502	SO:0001583	missense	60493				apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity	g.chr20:3127960C>A	BC007413	CCDS13048.1	20p13	2006-07-07			ENSG00000215251	ENSG00000215251			25790	protein-coding gene	gene with protein product		614272				11347906	Standard	NM_021826		Approved	FLJ13149	uc002whz.4	Q7L8L6	OTTHUMG00000031727	ENST00000380266.3:c.1757G>T	20.37:g.3127960C>A	ENSP00000369618:p.Arg586Leu					uc002whv.1_Intron|UBOX5_uc002whw.2_Intron|UBOX5_uc002whx.2_Intron|UBOX5_uc002why.1_Intron	p.R586L	NM_021826	NP_068598	Q7L8L6	FAKD5_HUMAN			2	2068	-			586					Q96JN3|Q9H5D1|Q9H8Y3	Missense_Mutation	SNP	ENST00000380266.3	37	c.1757G>T	CCDS13048.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.362702	0.82353	.	.	ENSG00000215251	ENST00000380266	T	0.44083	0.93	5.25	5.25	0.73442	FAST kinase-like protein, subdomain 2 (1);	0.095367	0.40222	N	0.001149	T	0.60117	0.2244	L	0.60455	1.87	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.51293	-0.8724	10	0.13470	T	0.59	.	19.2161	0.93778	0.0:1.0:0.0:0.0	.	586	Q7L8L6	FAKD5_HUMAN	L	586	ENSP00000369618:R586L	ENSP00000369618:R586L	R	-	2	0	FASTKD5	3075960	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.526000	0.81920	2.614000	0.88457	0.491000	0.48974	CGA		0.448	FASTKD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077701.2	NM_021826		35	86	1	0	4.65686e-17	0.003755	7.80216e-17	35	86				
FASTKD5	60493	broad.mit.edu	37	20	3129681	3129681	+	Silent	SNP	T	T	C			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr20:3129681T>C	ENST00000380266.3	-	2	357	c.36A>G	c.(34-36)agA>agG	p.R12R	UBOX5_ENST00000348031.2_Intron|UBOX5-AS1_ENST00000446537.1_RNA|UBOX5_ENST00000217173.2_Intron	NM_021826.4	NP_068598.1	Q7L8L6	FAKD5_HUMAN	FAST kinase domains 5	12					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)	p.R12R(1)		breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2)	19						ATGCTCGGTATCTTACAAGTT	0.473																																							uc002whz.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(34-36)AGA>AGG		FAST kinase domains 5							90.0	84.0	86.0					20																	3129681		2203	4300	6503	SO:0001819	synonymous_variant	60493				apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity	g.chr20:3129681T>C	BC007413	CCDS13048.1	20p13	2006-07-07			ENSG00000215251	ENSG00000215251			25790	protein-coding gene	gene with protein product		614272				11347906	Standard	NM_021826		Approved	FLJ13149	uc002whz.4	Q7L8L6	OTTHUMG00000031727	ENST00000380266.3:c.36A>G	20.37:g.3129681T>C						uc002whv.1_Intron|UBOX5_uc002whw.2_Intron|UBOX5_uc002whx.2_Intron|UBOX5_uc002why.1_Intron	p.R12R	NM_021826	NP_068598	Q7L8L6	FAKD5_HUMAN			2	347	-			12					Q96JN3|Q9H5D1|Q9H8Y3	Silent	SNP	ENST00000380266.3	37	c.36A>G	CCDS13048.1																																																																																				0.473	FASTKD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077701.2	NM_021826		32	38	0	0	0	0.002445	0	32	38				
ADRA1D	146	broad.mit.edu	37	20	4202212	4202212	+	Nonsense_Mutation	SNP	G	G	C			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr20:4202212G>C	ENST00000379453.4	-	2	1793	c.1677C>G	c.(1675-1677)taC>taG	p.Y559*		NM_000678.3	NP_000669.1	P25100	ADA1D_HUMAN	adrenoceptor alpha 1D	559				KPPSAFREWRLLGPFRRPTTQLRAKVSSLSHKIRAGGAQRA EAACAQRSEVEAVSLGVPHEVAEGATCQAYELADYSNLRET DI -> SHPAPSASGGCWGRSGDPRPSCAPKSPACRTRSPP GARSAQRQRAPSAQRWRLCP (in Ref. 1). {ECO:0000305}.	adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|adrenergic receptor signaling pathway (GO:0071875)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|DNA metabolic process (GO:0006259)|G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)|negative regulation of the force of heart contraction involved in baroreceptor response to increased systemic arterial blood pressure (GO:0001986)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|positive regulation of cell proliferation (GO:0008284)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha1-adrenergic receptor activity (GO:0004937)	p.Y559*(1)		endometrium(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	14					Alfuzosin(DB00346)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Dapiprazole(DB00298)|Desipramine(DB01151)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|Labetalol(DB00598)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Mianserin(DB06148)|Midodrine(DB00211)|Mirtazapine(DB00370)|Nicardipine(DB00622)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Oxymetazoline(DB00935)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Silodosin(DB06207)|Tamsulosin(DB00706)|Terazosin(DB01162)|Xylometazoline(DB06694)	CGGCCAATTCGTAGGCCTGGC	0.667																																							uc002wkr.2		NA																	1	Substitution - Nonsense(1)		lung(1)		0						c.(1675-1677)TAC>TAG		alpha-1D-adrenergic receptor	Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Methotrimeprazine(DB01403)|Norepinephrine(DB00368)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)						32.0	36.0	34.0					20																	4202212		2203	4299	6502	SO:0001587	stop_gained	146				cell proliferation|cell-cell signaling|DNA metabolic process|G-protein signaling, coupled to cAMP nucleotide second messenger|multicellular organismal development|positive regulation of cell proliferation	integral to plasma membrane	alpha1-adrenergic receptor activity	g.chr20:4202212G>C	U03864	CCDS13079.1	20p13	2012-08-08	2012-05-09		ENSG00000171873	ENSG00000171873		"""GPCR / Class A : Adrenoceptors : alpha"""	280	protein-coding gene	gene with protein product		104219	"""adrenergic, alpha-1D-, receptor"""			8039425	Standard	NM_000678		Approved	ADRA1R, ADRA1A, ADRA1	uc002wkr.2	P25100	OTTHUMG00000031779	ENST00000379453.4:c.1677C>G	20.37:g.4202212G>C	ENSP00000368766:p.Tyr559*						p.Y559*	NM_000678	NP_000669	P25100	ADA1D_HUMAN			2	1732	-			559	KPPSAFREWRLLGPFRRPTTQLRAKVSSLSHKIRAGGAQRA EAACAQRSEVEAVSLGVPHEVAEGATCQAYELADYSNLRET DI -> SHPAPSASGGCWGRSGDPRPSCAPKSPACRTRSPP GARSAQRQRAPSAQRWRLCP (in Ref. 1).		Cytoplasmic (By similarity).		Q9NPY0	Nonsense_Mutation	SNP	ENST00000379453.4	37	c.1677C>G	CCDS13079.1	.	.	.	.	.	.	.	.	.	.	G	33	5.265539	0.95399	.	.	ENSG00000171873	ENST00000379453	.	.	.	3.62	-3.22	0.05125	.	.	.	.	.	.	.	.	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.0158	0.36168	0.5559:0.0:0.4441:0.0	.	.	.	.	X	559	.	ENSP00000368766:Y559X	Y	-	3	2	ADRA1D	4150212	0.716000	0.27956	0.137000	0.22149	0.748000	0.42578	-0.146000	0.10250	-0.891000	0.03940	0.305000	0.20034	TAC		0.667	ADRA1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077812.2	NM_000678		6	31	0	0	0	0.001168	0	6	31				
SEL1L2	80343	broad.mit.edu	37	20	13858199	13858199	+	Silent	SNP	G	G	T	rs200683153		TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr20:13858199G>T	ENST00000284951.5	-	11	1067	c.993C>A	c.(991-993)gcC>gcA	p.A331A	SEL1L2_ENST00000486903.1_5'UTR|SEL1L2_ENST00000378072.5_Silent_p.A331A			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	331						integral component of membrane (GO:0016021)		p.A331A(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						TTGCACTCCCGGCCTTTGCTG	0.353																																							uc010gcf.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(991-993)GCC>GCA		sel-1 suppressor of lin-12-like 2 precursor							95.0	91.0	92.0					20																	13858199		1850	4087	5937	SO:0001819	synonymous_variant	80343					integral to membrane	binding	g.chr20:13858199G>T	AL137678	CCDS59443.1	20p12.1	2011-03-31	2006-11-24	2006-11-24	ENSG00000101251	ENSG00000101251			15897	protein-coding gene	gene with protein product		614289	"""chromosome 20 open reading frame 50"""	C20orf50			Standard	NM_001271539		Approved	DKFZp434C1826	uc010zrl.3	Q5TEA6	OTTHUMG00000031910	ENST00000284951.5:c.993C>A	20.37:g.13858199G>T						SEL1L2_uc002woq.3_Silent_p.A192A|SEL1L2_uc010zrl.1_Silent_p.A331A|SEL1L2_uc002wor.2_RNA	p.A331A	NM_025229	NP_079505	Q5TEA6	SE1L2_HUMAN			11	1075	-			331			Extracellular (Potential).|Sel1-like 5.		B4DXX5	Silent	SNP	ENST00000284951.5	37	c.993C>A																																																																																					0.353	SEL1L2-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078067.3	NM_025229		11	52	1	0	1.05317e-09	0.00245	1.43896e-09	11	52				
SNX5	27131	broad.mit.edu	37	20	17932182	17932182	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr20:17932182C>A	ENST00000377768.3	-	7	883	c.571G>T	c.(571-573)Gtg>Ttg	p.V191L	SNX5_ENST00000377759.4_Missense_Mutation_p.V191L|SNX5_ENST00000483485.1_5'UTR	NM_152227.1	NP_689413.1	Q9Y5X3	SNX5_HUMAN	sorting nexin 5	191					intracellular protein transport (GO:0006886)|pinocytosis (GO:0006907)	cytoplasmic vesicle (GO:0031410)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|extrinsic component of endosome membrane (GO:0031313)|macropinocytic cup (GO:0070685)	phosphatidylinositol binding (GO:0035091)	p.V191L(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	11						GCACTTTTCACCACACTTTTG	0.358																																							uc002wqc.2		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(571-573)GTG>TTG		sorting nexin 5							112.0	108.0	109.0					20																	17932182		2203	4300	6503	SO:0001583	missense	27131				cell communication|pinocytosis|protein transport	cytoplasmic vesicle membrane|early endosome membrane|extrinsic to endosome membrane|extrinsic to internal side of plasma membrane|macropinocytic cup|phagocytic cup|ruffle	phosphatidylinositol binding	g.chr20:17932182C>A	AF121855	CCDS13130.1	20p11	2008-05-22			ENSG00000089006	ENSG00000089006		"""Sorting nexins"""	14969	protein-coding gene	gene with protein product		605937				10600472, 17148574	Standard	NM_152227		Approved		uc002wqc.3	Q9Y5X3	OTTHUMG00000031953	ENST00000377768.3:c.571G>T	20.37:g.17932182C>A	ENSP00000366998:p.Val191Leu					SNX5_uc002wqb.2_RNA|SNX5_uc002wqd.2_Missense_Mutation_p.V191L|SNX5_uc002wqe.2_Missense_Mutation_p.V86L|SNX5_uc010zrt.1_Missense_Mutation_p.V191L	p.V191L	NM_014426	NP_055241	Q9Y5X3	SNX5_HUMAN			6	657	-			191					B7ZKN3|D3DW26|Q52LC4|Q7KZN0|Q9BWP0	Missense_Mutation	SNP	ENST00000377768.3	37	c.571G>T	CCDS13130.1	.	.	.	.	.	.	.	.	.	.	C	19.88	3.908709	0.72868	.	.	ENSG00000089006	ENST00000377768;ENST00000377759;ENST00000431277;ENST00000419004	T;T;T;T	0.28454	1.61;1.61;1.61;1.92	5.21	5.21	0.72293	Vps5 C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.40619	0.1124	M	0.73598	2.24	0.80722	D	1	B;P	0.38395	0.322;0.629	B;B	0.40009	0.222;0.316	T	0.25467	-1.0131	10	0.28530	T	0.3	.	19.187	0.93648	0.0:1.0:0.0:0.0	.	212;191	B7Z476;Q9Y5X3	.;SNX5_HUMAN	L	191;191;154;156	ENSP00000366998:V191L;ENSP00000366988:V191L;ENSP00000404448:V154L;ENSP00000406731:V156L	ENSP00000366988:V191L	V	-	1	0	SNX5	17880182	1.000000	0.71417	0.997000	0.53966	0.842000	0.47809	7.771000	0.85420	2.596000	0.87737	0.556000	0.70494	GTG		0.358	SNX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078137.4			33	75	1	0	4.14481e-20	0.00623	7.21634e-20	33	75				
ZNF133	7692	broad.mit.edu	37	20	18297168	18297168	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr20:18297168G>T	ENST00000316358.4	+	4	1770	c.1673G>T	c.(1672-1674)gGc>gTc	p.G558V	ZNF133_ENST00000377671.3_Missense_Mutation_p.G557V|ZNF133_ENST00000538547.1_Missense_Mutation_p.G463V|ZNF133_ENST00000462170.1_3'UTR|ZNF133_ENST00000396026.3_Missense_Mutation_p.G561V|ZNF133_ENST00000401790.1_Missense_Mutation_p.G558V|RP4-568F9.3_ENST00000436848.1_RNA|ZNF133_ENST00000535822.1_Missense_Mutation_p.G463V|ZNF133_ENST00000402618.2_Missense_Mutation_p.G495V	NM_001282998.1|NM_001282999.1|NM_001283000.1|NM_001283001.1|NM_001283008.1	NP_001269927.1|NP_001269928.1|NP_001269929.1|NP_001269930.1|NP_001269937.1	P52736	ZN133_HUMAN	zinc finger protein 133	558					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G557V(1)		autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26						TGTGGACTGGGCTTTGGCAAT	0.562																																							uc010gcq.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(1672-1674)GGC>GTC		zinc finger protein 133							108.0	89.0	95.0					20																	18297168		2203	4300	6503	SO:0001583	missense	7692					nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:18297168G>T	AK123005	CCDS13134.1, CCDS63234.1, CCDS63235.1, CCDS74703.1, CCDS74704.1	20p11.23	2013-01-08	2006-06-13		ENSG00000125846	ENSG00000125846		"""Zinc fingers, C2H2-type"", ""-"""	12917	protein-coding gene	gene with protein product		604075	"""zinc finger protein 150 (pHZ-66)"", ""zinc finger protein 133 (clone pHZ-13)"""	ZNF150		7557990, 7649249	Standard	XM_005260819		Approved	pHZ-13, pHZ-66	uc010gcs.3	P52736	OTTHUMG00000031965	ENST00000316358.4:c.1673G>T	20.37:g.18297168G>T	ENSP00000346090:p.Gly558Val					ZNF133_uc010zrv.1_Missense_Mutation_p.G561V|ZNF133_uc010zrw.1_Missense_Mutation_p.G495V|ZNF133_uc010gcr.2_Missense_Mutation_p.G558V|ZNF133_uc010zrx.1_Missense_Mutation_p.G463V|ZNF133_uc002wql.3_Missense_Mutation_p.G557V|ZNF133_uc010gcs.2_Missense_Mutation_p.G557V|ZNF133_uc010zry.1_Missense_Mutation_p.G463V|ZNF133_uc002wqm.2_Missense_Mutation_p.G558V	p.G558V	NM_003434	NP_003425	P52736	ZN133_HUMAN			5	1978	+			558			C2H2-type 13.		A8K5S4|B4DHU7|B4DIB8|B7ZAS1|F5H289|J3KQ11|J3KQJ0|Q53XU1|Q5JXV8|Q9BUV2|Q9H443	Missense_Mutation	SNP	ENST00000316358.4	37	c.1673G>T		.	.	.	.	.	.	.	.	.	.	G	13.98	2.399780	0.42512	.	.	ENSG00000125846	ENST00000377671;ENST00000396026;ENST00000402618;ENST00000401790;ENST00000538547;ENST00000535822;ENST00000316358	T;T;T;T;T;T;T	0.17054	2.3;2.3;2.3;2.3;2.3;2.3;2.3	4.35	4.35	0.52113	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.44688	D	0.000440	T	0.26846	0.0657	L	0.34521	1.04	0.53688	D	0.999972	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.97110	1.0;0.997;0.996;0.984	T	0.00559	-1.1671	10	0.56958	D	0.05	-17.56	8.4072	0.32622	0.1026:0.0:0.8974:0.0	.	495;561;558;557	B4DIB8;B4DHU7;P52736;P52736-2	.;.;ZN133_HUMAN;.	V	557;561;495;558;463;463;558	ENSP00000366899:G557V;ENSP00000400897:G561V;ENSP00000385279:G495V;ENSP00000383945:G558V;ENSP00000442978:G463V;ENSP00000439427:G463V;ENSP00000346090:G558V	ENSP00000346090:G558V	G	+	2	0	ZNF133	18245168	0.141000	0.22595	0.856000	0.33681	0.344000	0.29017	2.743000	0.47442	2.722000	0.93159	0.655000	0.94253	GGC		0.562	ZNF133-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000127616.1	NM_003434		11	29	1	0	2.80697e-09	0.000978	3.77464e-09	11	29				
RALGAPA2	57186	broad.mit.edu	37	20	20582347	20582347	+	Missense_Mutation	SNP	T	T	C			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr20:20582347T>C	ENST00000202677.7	-	16	2189	c.2182A>G	c.(2182-2184)Att>Gtt	p.I728V	RALGAPA2_ENST00000495793.1_5'UTR	NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)	728					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)	p.I728V(2)		endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						TGGCGAACAATATTTCTTGCC	0.398																																							uc002wrz.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(2182-2184)ATT>GTT		akt substrate AS250							55.0	56.0	56.0					20																	20582347		1867	4103	5970	SO:0001583	missense	57186				activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity	g.chr20:20582347T>C	AL078634, DQ310704	CCDS46584.1	20p11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000188559	ENSG00000188559			16207	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 74"""	C20orf74		16490346, 19520869	Standard	NM_020343		Approved	dJ1049G11.4, AS250, KIAA1272, RapGAPalpha2	uc002wrz.3	Q2PPJ7	OTTHUMG00000032010	ENST00000202677.7:c.2182A>G	20.37:g.20582347T>C	ENSP00000202677:p.Ile728Val					RALGAPA2_uc010gcx.2_Missense_Mutation_p.I432V|RALGAPA2_uc010zsg.1_Missense_Mutation_p.I129V	p.I728V	NM_020343	NP_065076	Q2PPJ7	RGPA2_HUMAN			16	2325	-			728					Q4VXU6|Q5JUA3|Q5JUA4|Q5T9K3|Q96CX9|Q9BQT7|Q9H9D9|Q9ULE8	Missense_Mutation	SNP	ENST00000202677.7	37	c.2182A>G	CCDS46584.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	2.979|2.979	-0.210823|-0.210823	0.06140|0.06140	.|.	.|.	ENSG00000188559|ENSG00000188559	ENST00000430436|ENST00000202677	.|D	.|0.95103	.|-3.61	4.85|4.85	3.75|3.75	0.43078|0.43078	.|.	0.310402|0.310402	0.37669|0.37669	N|N	0.001984|0.001984	D|D	0.88537|0.88537	0.6463|0.6463	L|L	0.31294|0.31294	0.92|0.92	0.22240|0.22240	N|N	0.999261|0.999261	.|B;B	.|0.02656	.|0.0;0.0	.|B;B	.|0.04013	.|0.0;0.001	T|T	0.73707|0.73707	-0.3898|-0.3898	6|10	.|0.17369	.|T	.|0.5	.|.	10.6123|10.6123	0.45429|0.45429	0.0:0.077:0.0:0.923|0.0:0.077:0.0:0.923	.|.	.|566;728	.|A8MSM5;Q2PPJ7	.|.;RGPA2_HUMAN	M|V	544|728	.|ENSP00000202677:I728V	.|ENSP00000202677:I728V	I|I	-|-	3|1	3|0	RALGAPA2|RALGAPA2	20530347|20530347	0.997000|0.997000	0.39634|0.39634	0.030000|0.030000	0.17652|0.17652	0.338000|0.338000	0.28826|0.28826	4.196000|4.196000	0.58407|0.58407	0.807000|0.807000	0.34208|0.34208	0.459000|0.459000	0.35465|0.35465	ATA|ATT		0.398	RALGAPA2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000471941.1	NM_020343		3	50	0	0	0	0.004672	0	3	50				
BPIFB6	128859	broad.mit.edu	37	20	31627309	31627309	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr20:31627309C>T	ENST00000349552.1	+	10	1057	c.1057C>T	c.(1057-1059)Ctc>Ttc	p.L353F		NM_174897.2	NP_777557.1	Q8NFQ5	BPIB6_HUMAN	BPI fold containing family B, member 6	353						extracellular region (GO:0005576)	lipid binding (GO:0008289)	p.L353F(1)									TCCAATGTCCCTCTTTCTCCT	0.537																																							uc010zuc.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(1057-1059)CTC>TTC		bactericidal/permeability-increasing							98.0	103.0	101.0					20																	31627309		2203	4300	6503	SO:0001583	missense	128859					extracellular region	lipid binding	g.chr20:31627309C>T	AF465767	CCDS13211.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000167104	ENSG00000167104		"""BPI fold containing"""	16504	protein-coding gene	gene with protein product		614110	"""bactericidal/permeability-increasing protein-like 3"""	BPIL3		12185532, 21787333	Standard	NM_174897		Approved	LPLUNC6	uc010zuc.2	Q8NFQ5	OTTHUMG00000032238	ENST00000349552.1:c.1057C>T	20.37:g.31627309C>T	ENSP00000344929:p.Leu353Phe					BPIL3_uc010zud.1_Missense_Mutation_p.L292F	p.L353F	NM_174897	NP_777557	Q8NFQ5	BPIL3_HUMAN			10	1057	+			353						Missense_Mutation	SNP	ENST00000349552.1	37	c.1057C>T	CCDS13211.1	.	.	.	.	.	.	.	.	.	.	C	10.28	1.306778	0.23821	.	.	ENSG00000167104	ENST00000349552	T	0.13420	2.59	4.43	-0.247	0.13019	.	0.858235	0.09873	N	0.744687	T	0.25644	0.0624	M	0.68952	2.095	0.22171	N	0.999312	P	0.51537	0.946	P	0.57548	0.823	T	0.15780	-1.0425	10	0.44086	T	0.13	.	7.3128	0.26483	0.5163:0.3315:0.1522:0.0	.	353	Q8NFQ5	BPIB6_HUMAN	F	353	ENSP00000344929:L353F	ENSP00000344929:L353F	L	+	1	0	BPIFB6	31090970	0.673000	0.27539	0.375000	0.26029	0.002000	0.02628	0.412000	0.21131	0.146000	0.19002	-1.232000	0.01568	CTC		0.537	BPIFB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078658.2	NM_174897		72	98	0	0	0	0.00361	0	72	98				
DLGAP4	22839	broad.mit.edu	37	20	35128633	35128633	+	Nonsense_Mutation	SNP	C	C	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr20:35128633C>T	ENST00000373907.2	+	9	2330	c.2131C>T	c.(2131-2133)Cga>Tga	p.R711*	DLGAP4_ENST00000339266.5_Nonsense_Mutation_p.R711*|DLGAP4_ENST00000475894.1_3'UTR|DLGAP4_ENST00000340491.4_Nonsense_Mutation_p.R172*|DLGAP4_ENST00000373913.3_Nonsense_Mutation_p.R708*|DLGAP4_ENST00000401952.2_Nonsense_Mutation_p.R708*			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	711					cell-cell signaling (GO:0007267)	membrane (GO:0016020)|synapse (GO:0045202)		p.R708*(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				TATGTCCTCCCGACGGGACAC	0.597																																							uc002xff.2		NA																	1	Substitution - Nonsense(1)		lung(1)	skin(2)|ovary(1)	3						c.(2122-2124)CGA>TGA		disks large-associated protein 4 isoform a							85.0	76.0	79.0					20																	35128633		2203	4300	6503	SO:0001587	stop_gained	22839				cell-cell signaling	membrane	protein binding	g.chr20:35128633C>T	AF088030	CCDS13274.1, CCDS13275.1	20q11.23	2010-02-05			ENSG00000080845	ENSG00000080845			24476	protein-coding gene	gene with protein product						9115257	Standard	XM_005260329		Approved	DAP4, KIAA0964, SAPAP4	uc010zvp.2	Q9Y2H0	OTTHUMG00000032390	ENST00000373907.2:c.2131C>T	20.37:g.35128633C>T	ENSP00000363014:p.Arg711*					DLGAP4_uc010zvp.1_Nonsense_Mutation_p.R708*|DLGAP4_uc002xfg.2_Nonsense_Mutation_p.R4*|DLGAP4_uc002xfh.2_Nonsense_Mutation_p.R172*|DLGAP4_uc002xfi.2_Nonsense_Mutation_p.R17*|DLGAP4_uc002xfj.2_Nonsense_Mutation_p.R4*	p.R708*	NM_014902	NP_055717	Q9Y2H0	DLGP4_HUMAN			10	2557	+	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)	711					E1P5T5|Q5QPG4|Q5T2Y4|Q5T2Y5|Q9H137|Q9H138|Q9H1L7	Nonsense_Mutation	SNP	ENST00000373907.2	37	c.2122C>T		.	.	.	.	.	.	.	.	.	.	C	36	5.865061	0.97043	.	.	ENSG00000080845	ENST00000373913;ENST00000401952;ENST00000373907;ENST00000339266;ENST00000340491	.	.	.	5.24	3.14	0.36123	.	0.561082	0.19818	N	0.105372	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06625	T	0.88	.	11.1665	0.48545	0.5784:0.4216:0.0:0.0	.	.	.	.	X	708;708;711;711;172	.	ENSP00000341633:R711X	R	+	1	2	DLGAP4	34562047	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	4.066000	0.57520	1.196000	0.43129	0.650000	0.86243	CGA		0.597	DLGAP4-007	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000079025.2	NM_014902		14	21	0	0	0	0.004007	0	14	21				
DSN1	79980	broad.mit.edu	37	20	35390863	35390863	+	Splice_Site	SNP	C	C	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr20:35390863C>T	ENST00000426836.1	-	6	963		c.e6+1		DSN1_ENST00000373734.4_Splice_Site|DSN1_ENST00000373740.3_Splice_Site|DSN1_ENST00000373745.3_Splice_Site|DSN1_ENST00000473615.1_Splice_Site|DSN1_ENST00000373750.4_Splice_Site|DSN1_ENST00000448110.2_Splice_Site	NM_001145316.1	NP_001138788.1	Q9H410	DSN1_HUMAN	DSN1, MIS12 kinetochore complex component						chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cytosol (GO:0005829)|MIS12/MIND type complex (GO:0000444)|nucleus (GO:0005634)		p.?(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	16		Myeloproliferative disorder(115;0.00874)				ACTGCTCTTACCCATTTGAAT	0.443																																							uc010gfr.2		NA																	1	Unknown(1)		lung(1)	ovary(2)	2						c.e6+1		DSN1, MIND kinetochore complex component,							74.0	71.0	72.0					20																	35390863		2202	4300	6502	SO:0001630	splice_region_variant	79980				cell division|chromosome segregation|mitotic prometaphase	cytosol|MIS12/MIND type complex|nucleus	protein binding	g.chr20:35390863C>T	AK023408	CCDS13286.1, CCDS46596.1, CCDS46597.1	20q11.23	2013-07-03	2013-07-03	2006-11-07	ENSG00000149636	ENSG00000149636			16165	protein-coding gene	gene with protein product	"""kinetochore null 3 homolog (C. elegans)"""	609175	"""chromosome 20 open reading frame 172"", ""DSN1, MIND kinetochore complex component, homolog (S. cerevisiae)"""	C20orf172		16585270, 20819937	Standard	NM_001145315		Approved	dJ469A13.2, MIS13, KNL3, hKNL-3	uc002xfz.3	Q9H410	OTTHUMG00000032396	ENST00000426836.1:c.590+1G>A	20.37:g.35390863C>T						DSN1_uc002xfz.2_Splice_Site_p.G197_splice|DSN1_uc002xfy.3_Splice_Site|DSN1_uc002xga.2_Splice_Site_p.G197_splice|DSN1_uc010zvs.1_Splice_Site_p.G90_splice|DSN1_uc002xgc.2_Splice_Site_p.G181_splice|DSN1_uc002xgb.2_Splice_Site_p.G181_splice	p.G197_splice	NM_001145316	NP_001138788	Q9H410	DSN1_HUMAN			6	963	-		Myeloproliferative disorder(115;0.00874)						B4DWT2|E1P5U9|Q5JW55|Q5JW56|Q9H8P4	Splice_Site	SNP	ENST00000426836.1	37	c.590_splice	CCDS13286.1	.	.	.	.	.	.	.	.	.	.	C	16.15	3.042428	0.55003	.	.	ENSG00000149636	ENST00000426836;ENST00000373745;ENST00000448110;ENST00000373733;ENST00000373750;ENST00000373740;ENST00000373734;ENST00000449595;ENST00000447406;ENST00000438549	.	.	.	4.82	4.82	0.62117	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.5867	0.61935	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DSN1	34824277	0.995000	0.38212	0.999000	0.59377	0.580000	0.36256	3.849000	0.55910	2.673000	0.90976	0.491000	0.48974	.		0.443	DSN1-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079043.2	NM_024918	Intron	12	16	0	0	0	0.00245	0	12	16				
JPH2	57158	broad.mit.edu	37	20	42788285	42788285	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr20:42788285C>A	ENST00000372980.3	-	2	2014	c.1142G>T	c.(1141-1143)cGc>cTc	p.R381L		NM_020433.4	NP_065166.2	Q9BR39	JPH2_HUMAN	junctophilin 2	381	Ala-rich.				calcium ion homeostasis (GO:0055074)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport into cytosol (GO:0060402)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle tissue development (GO:0055024)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	calcium-release channel activity (GO:0015278)|phosphatidic acid binding (GO:0070300)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)|phosphatidylserine binding (GO:0001786)	p.R381L(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			GGCCTTCTGGCGCGCGATAGC	0.672																																							uc002xli.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1141-1143)CGC>CTC		junctophilin 2 isoform 1							23.0	22.0	23.0					20																	42788285		2201	4296	6497	SO:0001583	missense	57158				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane		g.chr20:42788285C>A	AL034419	CCDS13325.1, CCDS13326.1	20q12-q13.11	2014-09-17			ENSG00000149596	ENSG00000149596			14202	protein-coding gene	gene with protein product		605267				10891348, 10949023	Standard	XM_006723832		Approved	JP-2	uc002xli.1	Q9BR39	OTTHUMG00000033037	ENST00000372980.3:c.1142G>T	20.37:g.42788285C>A	ENSP00000362071:p.Arg381Leu						p.R381L	NM_020433	NP_065166	Q9BR39	JPH2_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)		2	2015	-		Myeloproliferative disorder(115;0.0122)	381			Ala-rich.|Cytoplasmic (Potential).		E1P5X1|O95913|Q5JY74|Q9UJN4	Missense_Mutation	SNP	ENST00000372980.3	37	c.1142G>T	CCDS13325.1	.	.	.	.	.	.	.	.	.	.	c	14.65	2.597991	0.46318	.	.	ENSG00000149596	ENST00000372980	T	0.61859	0.07	3.12	3.12	0.35913	.	0.056902	0.64402	U	0.000004	T	0.58750	0.2144	L	0.38953	1.18	0.80722	D	1	D	0.63046	0.992	P	0.54759	0.76	T	0.60767	-0.7198	10	0.41790	T	0.15	.	14.3695	0.66830	0.0:1.0:0.0:0.0	.	381	Q9BR39	JPH2_HUMAN	L	381	ENSP00000362071:R381L	ENSP00000362071:R381L	R	-	2	0	JPH2	42221699	1.000000	0.71417	1.000000	0.80357	0.379000	0.30106	5.356000	0.66052	1.550000	0.49438	0.306000	0.20318	CGC		0.672	JPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080307.1			7	9	1	0	0.000157383	0.00308	0.000175596	7	9				
HNF4A	3172	broad.mit.edu	37	20	43034844	43034844	+	Missense_Mutation	SNP	G	G	T	rs369182343		TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr20:43034844G>T	ENST00000316099.4	+	2	351	c.262G>T	c.(262-264)Gtg>Ttg	p.V88L	HNF4A_ENST00000415691.2_Missense_Mutation_p.V88L|HNF4A_ENST00000609795.1_Missense_Mutation_p.V66L|HNF4A_ENST00000443598.2_Missense_Mutation_p.V88L|HNF4A_ENST00000316673.4_Missense_Mutation_p.V66L|MIR3646_ENST00000578301.1_RNA|HNF4A_ENST00000457232.1_Missense_Mutation_p.V66L	NM_000457.4|NM_001258355.1|NM_178849.2	NP_000448.3|NP_001245284.1|NP_849180.1	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4, alpha	88					blood coagulation (GO:0007596)|endocrine pancreas development (GO:0031018)|gene expression (GO:0010467)|glucose homeostasis (GO:0042593)|lipid homeostasis (GO:0055088)|lipid metabolic process (GO:0006629)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|ornithine metabolic process (GO:0006591)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gastrulation (GO:0010470)|regulation of growth hormone receptor signaling pathway (GO:0060398)|regulation of insulin secretion (GO:0050796)|regulation of lipid metabolic process (GO:0019216)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to glucose (GO:0009749)|sex differentiation (GO:0007548)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein signal transduction (GO:0060395)|transcription initiation from RNA polymerase II promoter (GO:0006367)|triglyceride homeostasis (GO:0070328)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|fatty acid binding (GO:0005504)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.V88L(2)|p.V66L(1)		endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			CCGGAGGAGCGTGCGGAAGAA	0.617																																					Colon(79;2 1269 8820 14841 52347)	Colon(79;2 1269 8820 14841 52347)	uc002xma.2		NA																	3	Substitution - Missense(3)		lung(3)	ovary(1)|lung(1)|skin(1)	3						c.(262-264)GTG>TTG		hepatocyte nuclear factor 4 alpha isoform b							60.0	57.0	58.0					20																	43034844		2203	4300	6503	SO:0001583	missense	3172				blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr20:43034844G>T	X76930	CCDS13330.1, CCDS13331.1, CCDS42876.1, CCDS46604.1, CCDS46605.1, CCDS68131.1, CCDS74728.1	20q13.12	2014-09-17			ENSG00000101076	ENSG00000101076		"""Nuclear hormone receptors"""	5024	protein-coding gene	gene with protein product		600281		TCF14, MODY, MODY1		7926813, 9048927	Standard	NM_001030003		Approved	NR2A1, HNF4	uc010zwo.1	P41235	OTTHUMG00000032531	ENST00000316099.4:c.262G>T	20.37:g.43034844G>T	ENSP00000312987:p.Val88Leu					HNF4A_uc010zwo.1_Silent_p.A78A|HNF4A_uc002xlt.2_Missense_Mutation_p.V66L|HNF4A_uc002xlu.2_Missense_Mutation_p.V66L|HNF4A_uc002xlv.2_Missense_Mutation_p.V66L|HNF4A_uc002xly.2_Missense_Mutation_p.V88L|HNF4A_uc002xlz.2_Missense_Mutation_p.V88L|HNF4A_uc010ggq.2_Missense_Mutation_p.V81L	p.V88L	NM_000457	NP_000448	P41235	HNF4A_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)		2	351	+		Myeloproliferative disorder(115;0.0122)	88			Nuclear receptor.		A5JW41|B2RPP8|O00659|O00723|Q14540|Q5QPB8|Q6B4V5|Q6B4V6|Q6B4V7|Q92653|Q92654|Q92655|Q99864|Q9NQH0	Missense_Mutation	SNP	ENST00000316099.4	37	c.262G>T	CCDS13330.1	.	.	.	.	.	.	.	.	.	.	g	18.36	3.606941	0.66558	.	.	ENSG00000101076	ENST00000316673;ENST00000457232;ENST00000316099;ENST00000443598;ENST00000338692;ENST00000415691	D;D;D;D;D	0.97279	-4.32;-4.32;-4.32;-4.32;-4.32	5.17	5.17	0.71159	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (4);	0.122427	0.56097	D	0.000038	D	0.97679	0.9239	M	0.71206	2.165	0.80722	D	1	D;B;B;P;D;D;D	0.61080	0.989;0.292;0.292;0.5;0.989;0.986;0.971	P;B;B;B;P;P;P	0.62885	0.826;0.378;0.378;0.344;0.908;0.733;0.733	D	0.97740	1.0208	10	0.62326	D	0.03	.	12.1226	0.53900	0.0783:0.0:0.9217:0.0	.	81;88;88;88;66;66;66	Q5QPB7;P41235;F1D8S2;P41235-3;F1D8T0;P41235-6;P41235-7	.;HNF4A_HUMAN;.;.;.;.;.	L	66;66;88;88;118;88	ENSP00000315180:V66L;ENSP00000396216:V66L;ENSP00000312987:V88L;ENSP00000410911:V88L;ENSP00000412111:V88L	ENSP00000312987:V88L	V	+	1	0	HNF4A	42468258	1.000000	0.71417	0.999000	0.59377	0.957000	0.61999	4.891000	0.63185	2.414000	0.81942	0.645000	0.84053	GTG		0.617	HNF4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079363.3			21	44	1	0	1.87028e-06	0.001882	2.2728e-06	21	44				
SLC12A5	57468	broad.mit.edu	37	20	44680367	44680367	+	Silent	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr20:44680367G>T	ENST00000454036.2	+	18	2353	c.2304G>T	c.(2302-2304)gtG>gtT	p.V768V	SLC12A5_ENST00000243964.3_Silent_p.V745V	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	768					cellular ion homeostasis (GO:0006873)|chloride transmembrane transport (GO:1902476)|ion transport (GO:0006811)|learning (GO:0007612)|multicellular organism growth (GO:0035264)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|thermosensory behavior (GO:0040040)|transmembrane transport (GO:0055085)|transport (GO:0006810)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)	p.V745V(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	GCCAGGTGGTGATCTCCTCCA	0.627																																							uc010zxl.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5						c.(2302-2304)GTG>GTT		solute carrier family 12 (potassium-chloride	Bumetanide(DB00887)|Potassium Chloride(DB00761)						124.0	112.0	116.0					20																	44680367		2203	4300	6503	SO:0001819	synonymous_variant	57468				potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity	g.chr20:44680367G>T	AB033002	CCDS13391.1, CCDS46610.1	20q13.12	2013-05-22	2010-04-20		ENSG00000124140	ENSG00000124140		"""Solute carriers"""	13818	protein-coding gene	gene with protein product		606726					Standard	NM_020708		Approved	KIAA1176, KCC2	uc010zxl.1	Q9H2X9	OTTHUMG00000032638	ENST00000454036.2:c.2304G>T	20.37:g.44680367G>T						SLC12A5_uc002xrb.2_Silent_p.V745V	p.V768V	NM_001134771	NP_001128243	Q9H2X9	S12A5_HUMAN			18	2380	+		Myeloproliferative disorder(115;0.0122)	768					A2RTX2|Q5VZ41|Q9H4Z0|Q9ULP4	Silent	SNP	ENST00000454036.2	37	c.2304G>T	CCDS46610.1																																																																																				0.627	SLC12A5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000471538.1			15	68	1	0	0.000219431	0.00245	0.000244291	15	68				
ATP9A	10079	broad.mit.edu	37	20	50346457	50346457	+	Silent	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr20:50346457C>A	ENST00000338821.5	-	2	393	c.129G>T	c.(127-129)ctG>ctT	p.L43L	ATP9A_ENST00000311637.5_Silent_p.L28L|ATP9A_ENST00000402822.1_Silent_p.L43L|ATP9A_ENST00000477492.1_5'UTR	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	43					phospholipid translocation (GO:0045332)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.L43L(1)		breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						CGGGGTGCCCCAGCCAGACAG	0.597																																							uc002xwg.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(4)	4						c.(127-129)CTG>CTT		ATPase, class II, type 9A							113.0	105.0	108.0					20																	50346457		2203	4300	6503	SO:0001819	synonymous_variant	10079				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr20:50346457C>A	AB014511	CCDS33489.1	20q13.2	2010-04-20	2007-09-19		ENSG00000054793	ENSG00000054793		"""ATPases / P-type"""	13540	protein-coding gene	gene with protein product		609126	"""ATPase, Class II, type 9A"""			9734811, 11015572	Standard	NM_006045		Approved	KIAA0611, ATPIIA	uc002xwg.1	O75110	OTTHUMG00000032751	ENST00000338821.5:c.129G>T	20.37:g.50346457C>A						ATP9A_uc010gih.1_Silent_p.L28L	p.L43L	NM_006045	NP_006036	O75110	ATP9A_HUMAN			2	129	-			43			Cytoplasmic (Potential).		E1P5Y3|E1P5Y4|Q5TFW5|Q5TFW6|Q5TFW9|Q6ZMF3|Q9NQK6|Q9NQK7	Silent	SNP	ENST00000338821.5	37	c.129G>T	CCDS33489.1																																																																																				0.597	ATP9A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106494.1	NM_006045		25	69	1	0	7.38237e-10	0.00632	1.01819e-09	25	69				
TSHZ2	128553	broad.mit.edu	37	20	51870965	51870965	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr20:51870965G>T	ENST00000371497.5	+	2	1855	c.968G>T	c.(967-969)cGc>cTc	p.R323L	TSHZ2_ENST00000329613.6_Missense_Mutation_p.R320L|RP4-678D15.1_ENST00000606932.1_RNA|TSHZ2_ENST00000603338.2_Missense_Mutation_p.R320L	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	323					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R323L(1)		NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			GCTAAGAAACGCGTTTTTGAT	0.458																																							uc002xwo.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|haematopoietic_and_lymphoid_tissue(1)	6						c.(967-969)CGC>CTC		teashirt zinc finger homeobox 2							76.0	83.0	81.0					20																	51870965		2203	4300	6503	SO:0001583	missense	128553				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:51870965G>T	AF230201	CCDS33490.1, CCDS54474.1	20q13.2	2013-11-20	2007-07-16	2006-03-14	ENSG00000182463	ENSG00000182463		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	13010	protein-coding gene	gene with protein product		614118	"""chromosome 20 open reading frame 17"", ""zinc finger protein 218"", ""teashirt family zinc finger 2"""	C20orf17, ZNF218		9671742	Standard	NM_173485		Approved	ZABC2, OVC10-2, TSH2	uc021wex.1	Q9NRE2	OTTHUMG00000033058	ENST00000371497.5:c.968G>T	20.37:g.51870965G>T	ENSP00000360552:p.Arg323Leu						p.R323L	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	STAD - Stomach adenocarcinoma(23;0.1)		2	1924	+			323					B7Z7W1|J3KNQ0|Q4VXM4|Q6N003|Q8N260	Missense_Mutation	SNP	ENST00000371497.5	37	c.968G>T	CCDS33490.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.082608	0.76528	.	.	ENSG00000182463	ENST00000371497;ENST00000329613	T;T	0.16743	2.33;2.32	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.42854	0.1221	M	0.64404	1.975	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.11542	-1.0583	10	0.62326	D	0.03	-3.6975	20.0431	0.97598	0.0:0.0:1.0:0.0	.	323	Q9NRE2	TSH2_HUMAN	L	323;320	ENSP00000360552:R323L;ENSP00000333114:R320L	ENSP00000333114:R320L	R	+	2	0	TSHZ2	51304372	1.000000	0.71417	0.540000	0.28089	0.558000	0.35554	9.470000	0.97683	2.732000	0.93576	0.643000	0.83706	CGC		0.458	TSHZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080398.6	NM_173485		18	80	1	0	7.07596e-05	0.006122	8.00845e-05	18	80				
ZNF217	7764	broad.mit.edu	37	20	52193350	52193350	+	Silent	SNP	C	C	A	rs202034493		TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr20:52193350C>A	ENST00000371471.2	-	4	2378	c.1953G>T	c.(1951-1953)ccG>ccT	p.P651P	RP4-724E16.2_ENST00000424252.1_RNA|ZNF217_ENST00000302342.3_Silent_p.P651P			O75362	ZN217_HUMAN	zinc finger protein 217	651					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.P651P(2)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			TACTGCCATCCGGAGGAGGAG	0.493																																							uc002xwq.3		NA																	2	Substitution - coding silent(2)	p.P651S(2)	lung(2)	skin(2)|ovary(1)|large_intestine(1)|lung(1)|breast(1)	6						c.(1951-1953)CCG>CCT		zinc finger protein 217							162.0	162.0	162.0					20																	52193350		2203	4300	6503	SO:0001819	synonymous_variant	7764				negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr20:52193350C>A	AF041259	CCDS13443.1	20q13.2	2013-01-08			ENSG00000171940	ENSG00000171940		"""Zinc fingers, C2H2-type"""	13009	protein-coding gene	gene with protein product		602967				9671742	Standard	NM_006526		Approved	ZABC1	uc002xwq.4	O75362	OTTHUMG00000032764	ENST00000371471.2:c.1953G>T	20.37:g.52193350C>A						ZNF217_uc010gij.1_Silent_p.P643P	p.P651P	NM_006526	NP_006517	O75362	ZN217_HUMAN	BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)		3	2224	-	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		651					E1P5Y6|Q14DB8	Silent	SNP	ENST00000371471.2	37	c.1953G>T	CCDS13443.1																																																																																				0.493	ZNF217-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079757.2	NM_006526		128	133	1	0	2.87069e-51	0.00361	5.50439e-51	128	133				
CBLN4	140689	broad.mit.edu	37	20	54578972	54578972	+	Missense_Mutation	SNP	T	T	C			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr20:54578972T>C	ENST00000064571.2	-	1	1556	c.256A>G	c.(256-258)Atg>Gtg	p.M86V		NM_080617.5	NP_542184.1	Q9NTU7	CBLN4_HUMAN	cerebellin 4 precursor	86	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				protein secretion (GO:0009306)	cell junction (GO:0030054)|extracellular space (GO:0005615)|synapse (GO:0045202)		p.M86V(1)		endometrium(2)|large_intestine(1)|lung(10)|ovary(3)|pancreas(1)	17			Colorectal(105;0.202)			TTGTTGCTCATCTCGGATGGC	0.647																																							uc002xxa.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|pancreas(1)	4						c.(256-258)ATG>GTG		cerebellin 4 precursor							185.0	189.0	188.0					20																	54578972		2203	4300	6503	SO:0001583	missense	140689					cell junction|extracellular region|synapse		g.chr20:54578972T>C	AY358527	CCDS13448.1	20q13	2004-08-19	2004-08-19	2004-08-19	ENSG00000054803	ENSG00000054803			16231	protein-coding gene	gene with protein product		615029	"""cerebellin precursor-like 1"""	CBLNL1			Standard	NM_080617		Approved	dJ885A10.1	uc002xxa.4	Q9NTU7	OTTHUMG00000032782	ENST00000064571.2:c.256A>G	20.37:g.54578972T>C	ENSP00000064571:p.Met86Val						p.M86V	NM_080617	NP_542184	Q9NTU7	CBLN4_HUMAN	Colorectal(105;0.202)		1	1041	-			86			C1q.		A8K0S5	Missense_Mutation	SNP	ENST00000064571.2	37	c.256A>G	CCDS13448.1	.	.	.	.	.	.	.	.	.	.	T	17.29	3.352614	0.61293	.	.	ENSG00000054803	ENST00000064571	T	0.35789	1.29	5.31	5.31	0.75309	Tumour necrosis factor-like (2);Complement C1q protein (4);	0.034927	0.85682	D	0.000000	T	0.32071	0.0817	L	0.42581	1.335	0.80722	D	1	B	0.15930	0.015	B	0.19946	0.027	T	0.09207	-1.0685	10	0.17369	T	0.5	-34.8302	15.5564	0.76196	0.0:0.0:0.0:1.0	.	86	Q9NTU7	CBLN4_HUMAN	V	86	ENSP00000064571:M86V	ENSP00000064571:M86V	M	-	1	0	CBLN4	54012379	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.585000	0.82584	2.126000	0.65437	0.482000	0.46254	ATG		0.647	CBLN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079783.2	NM_080617		47	262	0	0	0	0.00361	0	47	262				
CASS4	57091	broad.mit.edu	37	20	55012264	55012264	+	Silent	SNP	T	T	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr20:55012264T>A	ENST00000360314.3	+	3	306	c.81T>A	c.(79-81)tcT>tcA	p.S27S	CASS4_ENST00000434344.1_Silent_p.S27S|CASS4_ENST00000371336.3_Silent_p.S27S	NM_001164116.1	NP_001157588.1	Q9NQ75	CASS4_HUMAN	Cas scaffolding protein family member 4	27	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				cell adhesion (GO:0007155)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)	phosphorelay sensor kinase activity (GO:0000155)	p.S27S(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						CTGACTGCTCTGACGAGCTGG	0.572																																							uc002xxp.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(79-81)TCT>TCA		HEF-like protein isoform a							80.0	71.0	74.0					20																	55012264		2203	4300	6503	SO:0001819	synonymous_variant	57091				cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity	g.chr20:55012264T>A	AJ276678	CCDS33492.1, CCDS54475.1	20q13.31	2011-04-13	2008-04-14	2008-04-15	ENSG00000087589	ENSG00000087589		"""Cas scaffolding proteins"""	15878	protein-coding gene	gene with protein product	"""HEF-like protein"", ""HEF1-Efs-p130Cas-like"""		"""chromosome 20 open reading frame 32"""	C20orf32			Standard	NM_020356		Approved	HEFL, HEPL	uc002xxr.2	Q9NQ75	OTTHUMG00000032788	ENST00000360314.3:c.81T>A	20.37:g.55012264T>A						CASS4_uc002xxq.3_Silent_p.S27S|CASS4_uc002xxr.2_Silent_p.S27S|CASS4_uc010zze.1_Silent_p.S27S|CASS4_uc010gio.2_Silent_p.S27S	p.S27S	NM_001164116	NP_001157588	Q9NQ75	CASS4_HUMAN			3	306	+			27			SH3.		E1P5Z8|Q5QPD6|Q96K09|Q9BYL5	Silent	SNP	ENST00000360314.3	37	c.81T>A	CCDS33492.1																																																																																				0.572	CASS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079789.2	NM_020356		4	133	0	0	0	0.000602	0	4	133				
CTCFL	140690	broad.mit.edu	37	20	56087660	56087660	+	Nonsense_Mutation	SNP	A	A	T	rs150326376		TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr20:56087660A>T	ENST00000608263.1	-	7	2140	c.1479T>A	c.(1477-1479)taT>taA	p.Y493*	CTCFL_ENST00000432255.2_Intron|CTCFL_ENST00000423479.3_Nonsense_Mutation_p.Y493*|CTCFL_ENST00000243914.3_Nonsense_Mutation_p.Y493*|CTCFL_ENST00000608903.1_Nonsense_Mutation_p.Y231*|CTCFL_ENST00000608425.1_Nonsense_Mutation_p.Y493*|CTCFL_ENST00000502686.2_Nonsense_Mutation_p.Y231*|CTCFL_ENST00000433949.3_Nonsense_Mutation_p.Y288*|CTCFL_ENST00000608440.1_Nonsense_Mutation_p.Y493*|CTCFL_ENST00000429804.3_Nonsense_Mutation_p.Y443*|CTCFL_ENST00000608858.1_5'Flank|CTCFL_ENST00000539382.1_Nonsense_Mutation_p.Y288*|CTCFL_ENST00000422869.2_Nonsense_Mutation_p.Y493*|CTCFL_ENST00000609232.1_Nonsense_Mutation_p.Y493*|CTCFL_ENST00000371196.2_Nonsense_Mutation_p.Y493*	NM_001269041.1	NP_001255970.1	Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	493					cell cycle (GO:0007049)|DNA methylation involved in gamete generation (GO:0043046)|histone methylation (GO:0016571)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of histone H3-K4 methylation (GO:0051569)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)	p.Y493*(1)		NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			GCTTGCAGGCATAACTGCAGT	0.463																																							uc010gix.1		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(2)|large_intestine(1)|skin(1)	4						c.(1477-1479)TAT>TAA		CCCTC-binding factor-like protein							108.0	95.0	99.0					20																	56087660		2203	4300	6503	SO:0001587	stop_gained	140690				cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding	g.chr20:56087660A>T		CCDS13459.1, CCDS58776.1, CCDS58777.1, CCDS58778.1, CCDS58779.1, CCDS58780.1, CCDS58781.1, CCDS58782.1, CCDS68161.1, CCDS68162.1, CCDS68163.1, CCDS68164.1	20q13.31	2013-01-08			ENSG00000124092	ENSG00000124092		"""Zinc fingers, C2H2-type"""	16234	protein-coding gene	gene with protein product	"""cancer/testis antigen 27"""	607022					Standard	NM_001269040		Approved	dJ579F20.2, BORIS, CT27	uc010giw.1	Q8NI51	OTTHUMG00000032829	ENST00000608263.1:c.1479T>A	20.37:g.56087660A>T	ENSP00000476783:p.Tyr493*					CTCFL_uc010giw.1_Nonsense_Mutation_p.Y493*|CTCFL_uc002xym.2_Nonsense_Mutation_p.Y493*|CTCFL_uc010giz.1_Nonsense_Mutation_p.Y81*|CTCFL_uc010giy.1_Nonsense_Mutation_p.Y163*|CTCFL_uc010gja.1_Nonsense_Mutation_p.Y443*|CTCFL_uc010gjb.1_Nonsense_Mutation_p.Y493*|CTCFL_uc010gjc.1_Nonsense_Mutation_p.Y493*|CTCFL_uc010gjd.1_Nonsense_Mutation_p.Y493*|CTCFL_uc010gje.2_Nonsense_Mutation_p.Y493*|CTCFL_uc010gjf.2_Nonsense_Mutation_p.Y288*|CTCFL_uc010gjg.2_Nonsense_Mutation_p.Y225*|CTCFL_uc010gjh.1_Intron|CTCFL_uc010gji.1_Nonsense_Mutation_p.Y288*|CTCFL_uc010gjj.1_Nonsense_Mutation_p.Y493*	p.Y493*	NM_080618	NP_542185	Q8NI51	CTCFL_HUMAN	BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)		7	2141	-	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		493			C2H2-type 9.		A0S6W1|A1L4C6|A6XGL8|A6XGM2|A6XGM3|A6XGM8|A6XGN0|A6XGN1|A6XGN2|A6XGN3|A6XGN4|E7EQ27|E7EUE3|E9PBA9|Q5JUG4|Q9BZ30|Q9NQJ3	Nonsense_Mutation	SNP	ENST00000608263.1	37	c.1479T>A	CCDS13459.1	.	.	.	.	.	.	.	.	.	.	A	37	6.320138	0.97471	.	.	ENSG00000124092	ENST00000423479;ENST00000243914;ENST00000371196;ENST00000429804;ENST00000433949;ENST00000502686;ENST00000539382;ENST00000422869	.	.	.	5.35	-10.1	0.00402	.	0.000000	0.40385	N	0.001107	.	.	.	.	.	.	0.50813	D	0.99989	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	-23.8015	17.9643	0.89096	0.7267:0.0:0.2733:0.0	.	.	.	.	X	493;493;493;443;493;231;288;493	.	ENSP00000243914:Y493X	Y	-	3	2	CTCFL	55521066	0.001000	0.12720	0.003000	0.11579	0.075000	0.17131	-0.704000	0.05058	-1.918000	0.01072	-1.832000	0.00591	TAT		0.463	CTCFL-019	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000472040.1	NM_080618		33	127	0	0	0	0.003755	0	33	127				
GNAS	2778	broad.mit.edu	37	20	57485075	57485075	+	Silent	SNP	T	T	C			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr20:57485075T>C	ENST00000371085.3	+	11	1333	c.909T>C	c.(907-909)gcT>gcC	p.A303A	GNAS_ENST00000354359.7_Silent_p.A304A|GNAS_ENST00000371102.4_Silent_p.A932A|GNAS_ENST00000371075.3_3'UTR|GNAS_ENST00000371100.4_Silent_p.A946A|GNAS_ENST00000371095.3_Silent_p.A289A|GNAS_ENST00000313949.7_3'UTR|GNAS_ENST00000265620.7_Silent_p.A288A|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000306090.10_Silent_p.A289A	NM_000516.4	NP_000507.1	P63092	GNAS2_HUMAN	GNAS complex locus	303					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|bone development (GO:0060348)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|cognition (GO:0050890)|developmental growth (GO:0048589)|energy reserve metabolic process (GO:0006112)|hair follicle placode formation (GO:0060789)|intracellular transport (GO:0046907)|platelet aggregation (GO:0070527)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of insulin secretion (GO:0050796)|sensory perception of smell (GO:0007608)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intrinsic component of membrane (GO:0031224)|membrane (GO:0016020)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	adenylate cyclase activity (GO:0004016)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)	p.A946A(1)|p.A303A(1)		adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			AAGTCCTTGCTGGGAAATCGA	0.507			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)																											Colon(117;935 1597 6045 8307 46442)	Colon(117;935 1597 6045 8307 46442)	uc002xzw.2		NA		Dom	yes		20	20q13.2	2778	Mis	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	yes	McCune-Albright syndrome; pseudohypoparathyroidism|type IA	E			pituitary adenoma		2	Substitution - coding silent(2)		lung(2)	pituitary(201)|thyroid(35)|ovary(15)|adrenal_gland(9)|liver(7)|large_intestine(5)|parathyroid(5)|kidney(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|testis(1)|stomach(1)|small_intestine(1)|autonomic_ganglia(1)|pancreas(1)	292	GRCh37	CI002550	GNAS	I		c.(2836-2838)GCT>GCC		GNAS complex locus XLas							138.0	136.0	137.0					20																	57485075		2203	4300	6503	SO:0001819	synonymous_variant	2778	3-Methylglutaconic_Aciduria_and_Myelodysplasia|McCune-Albright_syndrome|Mazabraud_syndrome			activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity	g.chr20:57485075T>C	M21142	CCDS13471.1, CCDS13472.1, CCDS42892.1, CCDS46622.1, CCDS46623.1, CCDS46624.1	20q13.2-q13.3	2010-03-01	2001-12-19	2001-12-20	ENSG00000087460	ENSG00000087460			4392	protein-coding gene	gene with protein product	"""secretogranin VI"""	139320	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	GNAS1			Standard	NM_000516		Approved	NESP55, NESP, GNASXL, GPSA, SCG6	uc002xzw.3	O95467	OTTHUMG00000033069	ENST00000371085.3:c.909T>C	20.37:g.57485075T>C		TSP Lung(22;0.16)				GNAS_uc002xzt.2_3'UTR|GNAS_uc010gjq.2_Silent_p.A244A|GNAS_uc002xzx.2_Silent_p.A244A|GNAS_uc010gjr.2_Silent_p.A194A|GNAS_uc002xzy.2_Silent_p.A229A|GNAS_uc002yaa.2_Silent_p.A289A|GNAS_uc010zzt.1_Silent_p.A304A|GNAS_uc002yab.2_Intron|GNAS_uc002yad.2_Silent_p.A194A|GNAS_uc002yae.2_Silent_p.A228A	p.A946A	NM_080425	NP_536350	P63092	GNAS2_HUMAN	BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)		11	3123	+	all_lung(29;0.0104)		303					A6NI00|E1P5G5|P04895|Q12927|Q14433|Q32P26|Q5JWD2|Q5JWD4|Q5JWD5|Q6NR75|Q6NXS0|Q8TBC0|Q96H70	Silent	SNP	ENST00000371085.3	37	c.2838T>C	CCDS13472.1																																																																																				0.507	GNAS-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080431.2	NM_000516		31	190	0	0	0	0.002445	0	31	190				
NELFCD	51497	broad.mit.edu	37	20	57565975	57565975	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr20:57565975G>C	ENST00000344018.3	+	8	853	c.826G>C	c.(826-828)Gcc>Ccc	p.A276P	NELFCD_ENST00000602795.1_Missense_Mutation_p.A285P			Q8IXH7	NELFD_HUMAN	negative elongation factor complex member C/D	276					gene expression (GO:0010467)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	membrane (GO:0016020)|NELF complex (GO:0032021)|nucleoplasm (GO:0005654)		p.A276P(1)									AGGTCATGACGCCAGTCAGAT	0.507																																							uc002yag.2		NA																	1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						c.(826-828)GCC>CCC		TH1-like protein							88.0	88.0	88.0					20																	57565975		2203	4300	6503	SO:0001583	missense	51497				negative regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein binding	g.chr20:57565975G>C	AF161479	CCDS13473.1, CCDS13473.2	20q13	2013-01-31	2013-01-31	2013-01-31	ENSG00000101158	ENSG00000101158			15934	protein-coding gene	gene with protein product	"""trihydrophobin 1"""	605297	"""TH1-like (Drosophila homolog)"", ""TH1-like (Drosophila)"""	TH1L		11030415, 11042152	Standard	NM_198976		Approved	HSPC130, TH1, NELF-C, NELF-D	uc002yag.4	Q8IXH7	OTTHUMG00000032861	ENST00000344018.3:c.826G>C	20.37:g.57565975G>C	ENSP00000342300:p.Ala276Pro					TH1L_uc002yaf.1_RNA|TH1L_uc002yah.2_Missense_Mutation_p.A276P	p.A276P	NM_198976	NP_945327	Q8IXH7	NELFD_HUMAN	Colorectal(105;0.109)		8	853	+	all_lung(29;0.00711)		276					B4DE06|Q9BYL2|Q9H405|Q9H888|Q9H8T3|Q9NVX5|Q9P029|Q9UGN1|Q9UGN2|Q9UGN3	Missense_Mutation	SNP	ENST00000344018.3	37	c.826G>C		.	.	.	.	.	.	.	.	.	.	G	29.7	5.025858	0.93518	.	.	ENSG00000101158	ENST00000344018	.	.	.	6.07	6.07	0.98685	.	0.048386	0.85682	D	0.000000	T	0.61726	0.2370	N	0.12182	0.205	0.80722	D	1	D;D	0.65815	0.993;0.995	D;D	0.63703	0.917;0.916	T	0.65784	-0.6084	9	0.54805	T	0.06	-28.9229	20.6452	0.99591	0.0:0.0:1.0:0.0	.	285;276	E1P5H4;Q8IXH7	.;NELFD_HUMAN	P	276	.	ENSP00000342300:A276P	A	+	1	0	TH1L	56999370	1.000000	0.71417	1.000000	0.80357	0.726000	0.41606	9.751000	0.98889	2.885000	0.99019	0.650000	0.86243	GCC		0.507	NELFCD-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_198976		63	78	0	0	0	0.00361	0	63	78				
DIDO1	11083	broad.mit.edu	37	20	61512318	61512318	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr20:61512318G>A	ENST00000266070.4	-	16	5315	c.4990C>T	c.(4990-4992)Cct>Tct	p.P1664S	DIDO1_ENST00000395343.1_Missense_Mutation_p.P1664S	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1664					apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.P1664S(1)		NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					GCGCCGCAAGGCGGTGTGGGC	0.731																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	uc002ydr.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(3)	6						c.(4990-4992)CCT>TCT		death inducer-obliterator 1 isoform c							11.0	13.0	12.0					20																	61512318		2175	4253	6428	SO:0001583	missense	11083				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61512318G>A	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"""Zinc fingers, PHD-type"""	2680	protein-coding gene	gene with protein product		604140	"""chromosome 20 open reading frame 158"", ""death associated transcription factor 1"""	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.4990C>T	20.37:g.61512318G>A	ENSP00000266070:p.Pro1664Ser					DIDO1_uc002yds.1_Missense_Mutation_p.P1664S	p.P1664S	NM_033081	NP_149072	Q9BTC0	DIDO1_HUMAN			16	5254	-	Breast(26;5.68e-08)		1664					A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Missense_Mutation	SNP	ENST00000266070.4	37	c.4990C>T	CCDS33506.1	.	.	.	.	.	.	.	.	.	.	G	15.03	2.713173	0.48517	.	.	ENSG00000101191	ENST00000266070;ENST00000395343	T;T	0.09445	2.98;2.98	5.31	4.3	0.51218	.	0.171581	0.27831	N	0.017679	T	0.11110	0.0271	L	0.34521	1.04	0.32366	N	0.556524	P	0.49635	0.926	P	0.44597	0.454	T	0.03933	-1.0991	10	0.59425	D	0.04	-26.7041	12.6787	0.56910	0.0:0.0:0.7108:0.2892	.	1664	Q9BTC0	DIDO1_HUMAN	S	1664	ENSP00000266070:P1664S;ENSP00000378752:P1664S	ENSP00000266070:P1664S	P	-	1	0	DIDO1	60982763	1.000000	0.71417	0.263000	0.24496	0.014000	0.08584	3.077000	0.50089	2.456000	0.83038	0.655000	0.94253	CCT		0.731	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		4	20	0	0	0	0.009096	0	4	20				
OPRL1	4987	broad.mit.edu	37	20	62730101	62730101	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr20:62730101G>T	ENST00000349451.3	+	6	1474	c.1062G>T	c.(1060-1062)aaG>aaT	p.K354N	OPRL1_ENST00000355631.4_Missense_Mutation_p.K354N|OPRL1_ENST00000336866.2_Missense_Mutation_p.K354N	NM_001200019.1	NP_001186948.1	P41146	OPRX_HUMAN	opiate receptor-like 1	354					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|behavior (GO:0007610)|opioid receptor signaling pathway (GO:0038003)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)	cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|nociceptin receptor activity (GO:0001626)	p.K354N(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)					GCATTGCCAAGGACGTGGCCC	0.642																																							uc002yic.2		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(1060-1062)AAG>AAT		opiate receptor-like 1							63.0	56.0	58.0					20																	62730101		2201	4299	6500	SO:0001583	missense	4987				elevation of cytosolic calcium ion concentration|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception	integral to plasma membrane	protein binding|X-opioid receptor activity	g.chr20:62730101G>T		CCDS13556.1	20q13.33	2012-08-08			ENSG00000125510	ENSG00000125510		"""GPCR / Class A : Opioid receptors"""	8155	protein-coding gene	gene with protein product	"""LC132 receptor-like"", ""orphanin FQ receptor"", ""kappa3-related opioid receptor"""	602548				8137918	Standard	NM_000913		Approved	NOCIR, ORL1, OOR, KOR-3	uc021wgs.1	P41146	OTTHUMG00000033027	ENST00000349451.3:c.1062G>T	20.37:g.62730101G>T	ENSP00000336764:p.Lys354Asn					OPRL1_uc002yid.2_Missense_Mutation_p.K354N|OPRL1_uc002yif.3_Missense_Mutation_p.K349N	p.K354N	NM_182647	NP_872588	P41146	OPRX_HUMAN			5	1464	+	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)		354			Cytoplasmic (Potential).		Q8TD34|Q8WYH9|Q9H4K4	Missense_Mutation	SNP	ENST00000349451.3	37	c.1062G>T	CCDS13556.1	.	.	.	.	.	.	.	.	.	.	G	15.78	2.935419	0.52866	.	.	ENSG00000125510	ENST00000336866;ENST00000355631;ENST00000349451	T;T;T	0.64438	-0.1;-0.1;-0.1	5.12	0.799	0.18667	.	0.241349	0.39146	N	0.001455	T	0.49609	0.1567	L	0.44542	1.39	0.48830	D	0.999718	B;B	0.02656	0.0;0.0	B;B	0.08055	0.003;0.001	T	0.32851	-0.9891	10	0.56958	D	0.05	.	8.7946	0.34872	0.1956:0.0:0.6945:0.1099	.	349;354	P41146-2;P41146	.;OPRX_HUMAN	N	354	ENSP00000336843:K354N;ENSP00000347848:K354N;ENSP00000336764:K354N	ENSP00000336843:K354N	K	+	3	2	OPRL1	62200545	1.000000	0.71417	0.245000	0.24217	0.666000	0.39218	2.012000	0.40932	-0.310000	0.08766	-1.194000	0.01681	AAG		0.642	OPRL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080295.1	NM_182647		14	18	1	0	1.05317e-09	0.00245	1.43896e-09	14	18				
HSPA13	6782	broad.mit.edu	37	21	15753637	15753637	+	Missense_Mutation	SNP	C	C	A	rs140867763		TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr21:15753637C>A	ENST00000285667.3	-	2	320	c.253G>T	c.(253-255)Gta>Tta	p.V85L	HSPA13_ENST00000478035.1_5'UTR|HSPA13_ENST00000544452.1_5'UTR	NM_006948.4	NP_008879.3	P48723	HSP13_HUMAN	heat shock protein 70kDa family, member 13	85						endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	ATP binding (GO:0005524)	p.V85L(2)		NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						GCCAGCTCTACGCTTTCATAT	0.403																																							uc002yjt.2		NA																	2	Substitution - Missense(2)		lung(2)	kidney(1)	1						c.(253-255)GTA>TTA		heat shock protein 70kDa family member 13							133.0	129.0	131.0					21																	15753637		2203	4300	6503	SO:0001583	missense	6782					endoplasmic reticulum|microsome	ATP binding	g.chr21:15753637C>A		CCDS13567.1	21q11.1	2011-09-02	2008-06-17	2008-06-17	ENSG00000155304	ENSG00000155304		"""Heat shock proteins / HSP70"""	11375	protein-coding gene	gene with protein product		601100	"""stress 70 protein chaperone, microsome-associated, 60kD"", ""stress 70 protein chaperone, microsome-associated, 60kDa"""	STCH		8825657	Standard	NM_006948		Approved		uc002yjt.3	P48723	OTTHUMG00000074261	ENST00000285667.3:c.253G>T	21.37:g.15753637C>A	ENSP00000285667:p.Val85Leu					HSPA13_uc011abx.1_5'UTR	p.V85L	NM_006948	NP_008879	P48723	HSP13_HUMAN			2	322	-			85					B2R616|Q8NE40	Missense_Mutation	SNP	ENST00000285667.3	37	c.253G>T	CCDS13567.1	.	.	.	.	.	.	.	.	.	.	C	10.04	1.242644	0.22796	.	.	ENSG00000155304	ENST00000285667	T	0.00958	5.5	5.7	2.07	0.26955	.	0.288181	0.33346	N	0.005005	T	0.00356	0.0011	N	0.01417	-0.88	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.45483	-0.9258	10	0.02654	T	1	-4.152	5.129	0.14899	0.5224:0.1576:0.3199:0.0	.	85	P48723	HSP13_HUMAN	L	85	ENSP00000285667:V85L	ENSP00000285667:V85L	V	-	1	0	HSPA13	14675508	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	0.998000	0.29744	0.115000	0.18071	-0.474000	0.04947	GTA		0.403	HSPA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157815.1			29	67	1	0	1.12875e-08	0.00632	1.48658e-08	29	67				
ADAMTS5	11096	broad.mit.edu	37	21	28296446	28296446	+	Silent	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr21:28296446G>T	ENST00000284987.5	-	8	2840	c.2719C>A	c.(2719-2721)Cgg>Agg	p.R907R	AP001601.2_ENST00000426771.1_RNA	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	907	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.R907R(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						GCTAACTTCCGGTTTCCATCC	0.527																																					Esophageal Squamous(53;683 1080 10100 14424 45938)	Esophageal Squamous(53;683 1080 10100 14424 45938)	uc002ymg.2		NA																	1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(2)|ovary(1)|pancreas(1)	4						c.(2719-2721)CGG>AGG		ADAM metallopeptidase with thrombospondin type 1							94.0	78.0	84.0					21																	28296446		2203	4300	6503	SO:0001819	synonymous_variant	11096				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr21:28296446G>T	AF142099	CCDS13579.1	21q21.3	2008-07-31	2008-07-31		ENSG00000154736	ENSG00000154736		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	221	protein-coding gene	gene with protein product	"""aggrecanase-2"""	605007	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 5 (aggrecanase-2)"""			10438522	Standard	NM_007038		Approved	ADMP-2, ADAMTS11	uc002ymg.3	Q9UNA0	OTTHUMG00000078686	ENST00000284987.5:c.2719C>A	21.37:g.28296446G>T							p.R907R	NM_007038	NP_008969	Q9UNA0	ATS5_HUMAN			8	3448	-			907			TSP type-1 2.		Q52LV4|Q9UKP2	Silent	SNP	ENST00000284987.5	37	c.2719C>A	CCDS13579.1																																																																																				0.527	ADAMTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171648.1			19	41	1	0	6.94344e-10	0.006122	9.60243e-10	19	41				
KRTAP24-1	643803	broad.mit.edu	37	21	31655173	31655173	+	Silent	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr21:31655173G>T	ENST00000340345.4	-	1	103	c.78C>A	c.(76-78)atC>atA	p.I26I		NM_001085455.1	NP_001078924.1	Q3LI83	KR241_HUMAN	keratin associated protein 24-1	26						keratin filament (GO:0045095)	structural molecule activity (GO:0005198)	p.I26I(1)		breast(1)|large_intestine(3)|lung(7)|urinary_tract(3)	14						AGGTCACTGGGATATAACAGT	0.493																																							uc002ynv.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(76-78)ATC>ATA		keratin associated protein 24-1							62.0	63.0	63.0					21																	31655173		1982	4181	6163	SO:0001819	synonymous_variant	643803					keratin filament	structural molecule activity	g.chr21:31655173G>T	AB096935	CCDS42915.1	21q22.11	2007-11-23			ENSG00000188694	ENSG00000188694		"""Keratin associated proteins"""	33902	protein-coding gene	gene with protein product							Standard	NM_001085455		Approved	KAP24.1	uc002ynv.3	Q3LI83	OTTHUMG00000125483	ENST00000340345.4:c.78C>A	21.37:g.31655173G>T							p.I26I	NM_001085455	NP_001078924	Q3LI83	KR241_HUMAN			1	104	-			26					Q1XDX0	Silent	SNP	ENST00000340345.4	37	c.78C>A	CCDS42915.1																																																																																				0.493	KRTAP24-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246806.2	NM_001085455		11	37	1	0	6.40141e-05	0.000978	7.26916e-05	11	37				
KRTAP26-1	388818	broad.mit.edu	37	21	31691968	31691968	+	Missense_Mutation	SNP	A	A	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr21:31691968A>T	ENST00000360542.3	-	1	639	c.386T>A	c.(385-387)cTc>cAc	p.L129H		NM_203405.1	NP_981950.1	Q6PEX3	KR261_HUMAN	keratin associated protein 26-1	129						intermediate filament (GO:0005882)		p.L129H(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16						GTAACTATTGAGCAGCGGCCT	0.532																																							uc002ynw.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(385-387)CTC>CAC		keratin associated protein 26-1							134.0	136.0	135.0					21																	31691968		2203	4300	6503	SO:0001583	missense	388818					intermediate filament		g.chr21:31691968A>T	AB096936	CCDS13588.1	21q22.11	2007-11-23			ENSG00000197683	ENSG00000197683		"""Keratin associated proteins"""	33760	protein-coding gene	gene with protein product							Standard	NM_203405		Approved		uc002ynw.3	Q6PEX3	OTTHUMG00000057766	ENST00000360542.3:c.386T>A	21.37:g.31691968A>T	ENSP00000353742:p.Leu129His						p.L129H	NM_203405	NP_981950	Q6PEX3	KR261_HUMAN			1	640	-			129					B0RZD3	Missense_Mutation	SNP	ENST00000360542.3	37	c.386T>A	CCDS13588.1	.	.	.	.	.	.	.	.	.	.	A	11.95	1.790709	0.31685	.	.	ENSG00000197683	ENST00000360542	T	0.03330	3.97	3.95	1.63	0.23807	.	0.920984	0.08873	U	0.881319	T	0.03220	0.0094	N	0.08118	0	0.09310	N	1	D	0.59767	0.986	P	0.51453	0.67	T	0.47674	-0.9099	10	0.26408	T	0.33	-0.2194	4.8589	0.13573	0.7433:0.0:0.2567:0.0	.	129	Q6PEX3	KR261_HUMAN	H	129	ENSP00000353742:L129H	ENSP00000353742:L129H	L	-	2	0	KRTAP26-1	30613839	0.001000	0.12720	0.000000	0.03702	0.006000	0.05464	0.989000	0.29629	0.642000	0.30620	0.533000	0.62120	CTC		0.532	KRTAP26-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128218.1	NM_203405		26	139	0	0	0	0.003954	0	26	139				
MIS18A	54069	broad.mit.edu	37	21	33651133	33651133	+	Nonsense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr21:33651133C>A	ENST00000290130.3	-	1	247	c.193G>T	c.(193-195)Gag>Tag	p.E65*	MIS18A-AS1_ENST00000453549.1_RNA	NM_018944.2	NP_061817.1	Q9NYP9	MS18A_HUMAN	MIS18 kinetochore protein A	65					CENP-A containing nucleosome assembly (GO:0034080)|chromosome segregation (GO:0007059)|mitotic nuclear division (GO:0007067)|nucleosome assembly (GO:0006334)|regulation of DNA methylation (GO:0044030)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.E65*(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	7						TGCGCCCTCTCCATGTCGGCC	0.692																																							uc002ypi.2		NA																	1	Substitution - Nonsense(1)		lung(1)		0						c.(193-195)GAG>TAG		chromosome 21 open reading frame 45							16.0	15.0	15.0					21																	33651133		2201	4298	6499	SO:0001587	stop_gained	54069				cell division|CenH3-containing nucleosome assembly at centromere|mitosis	chromosome, centromeric region|nucleoplasm		g.chr21:33651133C>A	AF231921	CCDS13611.1	21q22.11	2013-10-21	2013-10-21	2011-02-23	ENSG00000159055	ENSG00000159055			1286	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 46"", ""chromosome 21 open reading frame 45"", ""MIS18 kinetochore protein homolog A (S. pombe)"""	C21orf46, C21orf45		17199038	Standard	NM_018944		Approved	B28, FASP1, hMis18alpha	uc002ypi.3	Q9NYP9	OTTHUMG00000085308	ENST00000290130.3:c.193G>T	21.37:g.33651133C>A	ENSP00000290130:p.Glu65*					C21orf45_uc011adn.1_Nonsense_Mutation_p.E65*	p.E65*	NM_018944	NP_061817	Q9NYP9	MS18A_HUMAN			1	244	-			65					B2R562|Q542Z0	Nonsense_Mutation	SNP	ENST00000290130.3	37	c.193G>T	CCDS13611.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.530250	0.85706	.	.	ENSG00000159055	ENST00000290130	.	.	.	4.91	3.09	0.35607	.	2.265700	0.01619	N	0.022929	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.19590	T	0.45	-1.0621	9.3666	0.38228	0.0:0.826:0.0:0.174	.	.	.	.	X	65	.	ENSP00000290130:E65X	E	-	1	0	MIS18A	32573004	0.001000	0.12720	0.001000	0.08648	0.001000	0.01503	0.619000	0.24388	0.747000	0.32809	0.650000	0.86243	GAG		0.692	MIS18A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000193090.1	NM_018944		4	4	1	0	0.00909568	0.009096	0.00956356	4	4				
PCP4	5121	broad.mit.edu	37	21	41239372	41239372	+	5'UTR	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr21:41239372C>A	ENST00000328619.5	+	0	130					NM_006198.2	NP_006189.2	P48539	PCP4_HUMAN	Purkinje cell protein 4						central nervous system development (GO:0007417)	cytosol (GO:0005829)|nucleus (GO:0005634)				large_intestine(2)|lung(1)|skin(1)	4		Prostate(19;2.65e-06)|all_epithelial(19;0.138)				GCAGCGACCCCTGAGCAGTGT	0.552											OREG0026223	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc002yyp.2		NA																	0				large_intestine(1)	1						c.(-57--53)CCCTG>CCATG		Purkinje cell protein 4							88.0	83.0	85.0					21																	41239372		692	1591	2283	SO:0001623	5_prime_UTR_variant	5121				central nervous system development	cytosol|nucleus		g.chr21:41239372C>A	X93349, U53709	CCDS33563.1	21q22.2	2006-12-01			ENSG00000183036	ENSG00000183036			8742	protein-coding gene	gene with protein product		601629				8931698, 8914602	Standard	NM_006198		Approved	PEP-19	uc002yyp.3	P48539	OTTHUMG00000086731	ENST00000328619.5:c.-56C>A	21.37:g.41239372C>A			OREG0026223	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	899			NM_006198	NP_006189	P48539	PCP4_HUMAN			1	26	+		Prostate(19;2.65e-06)|all_epithelial(19;0.138)						A6NDJ9|Q6ICS4|Q93059	Translation_Start_Site	SNP	ENST00000328619.5	37	c.-55C>A	CCDS33563.1																																																																																				0.552	PCP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195025.1	NM_006198		14	37	1	0	0.00244969	0.00245	0.00263258	14	37				
DSCAM	1826	broad.mit.edu	37	21	42080435	42080435	+	Nonsense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr21:42080435G>T	ENST00000400454.1	-	2	783	c.306C>A	c.(304-306)tgC>tgA	p.C102*		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	102	Ig-like C2-type 1.				cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.C102*(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TTTCAGCTGTGCAATAATAAG	0.478																																					Melanoma(134;970 1778 1785 21664 32388)	Melanoma(134;970 1778 1785 21664 32388)	uc002yyq.1		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(6)|skin(4)|upper_aerodigestive_tract(1)	11						c.(304-306)TGC>TGA		Down syndrome cell adhesion molecule isoform							116.0	112.0	113.0					21																	42080435		1885	4107	5992	SO:0001587	stop_gained	1826				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	g.chr21:42080435G>T	AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.306C>A	21.37:g.42080435G>T	ENSP00000383303:p.Cys102*					DSCAM_uc002yyr.1_RNA	p.C102*	NM_001389	NP_001380	O60469	DSCAM_HUMAN			2	758	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	102			Extracellular (Potential).|Ig-like C2-type 1.		O60468	Nonsense_Mutation	SNP	ENST00000400454.1	37	c.306C>A	CCDS42929.1	.	.	.	.	.	.	.	.	.	.	G	42	9.793686	0.99266	.	.	ENSG00000171587	ENST00000400454	.	.	.	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.1833	0.93632	0.0:0.0:1.0:0.0	.	.	.	.	X	102	.	ENSP00000383303:C102X	C	-	3	2	DSCAM	41002305	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.357000	0.97099	2.547000	0.85894	0.585000	0.79938	TGC		0.478	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		34	92	1	0	9.8876e-21	0.004878	1.73033e-20	34	92				
UBASH3A	53347	broad.mit.edu	37	21	43863444	43863444	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr21:43863444C>A	ENST00000319294.6	+	13	1685	c.1654C>A	c.(1654-1656)Ctc>Atc	p.L552I	UBASH3A_ENST00000291535.6_Missense_Mutation_p.L514I|UBASH3A_ENST00000398367.1_Intron	NM_018961.3	NP_061834.1	P57075	UBS3A_HUMAN	ubiquitin associated and SH3 domain containing A	552	Phosphatase-like.				negative regulation of T cell receptor signaling pathway (GO:0050860)|regulation of cytokine production (GO:0001817)	cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)	p.L552I(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						CCTGTCCGCCCTCATGCCGGC	0.597																																							uc002zbe.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(1654-1656)CTC>ATC		ubiquitin associated and SH3 domain containing,							70.0	53.0	59.0					21																	43863444		2203	4300	6503	SO:0001583	missense	53347					cytosol|nucleus		g.chr21:43863444C>A	AJ277750	CCDS13687.1, CCDS33566.1, CCDS58791.1	21q22.3	2010-04-28	2010-04-28		ENSG00000160185	ENSG00000160185			12462	protein-coding gene	gene with protein product		605736				11281453	Standard	NM_018961		Approved	STS-2, TULA, CLIP4	uc002zbf.3	P57075	OTTHUMG00000086805	ENST00000319294.6:c.1654C>A	21.37:g.43863444C>A	ENSP00000317327:p.Leu552Ile					UBASH3A_uc002zbf.2_Missense_Mutation_p.L514I|UBASH3A_uc010gpc.2_RNA|UBASH3A_uc010gpd.2_RNA|UBASH3A_uc010gpe.2_Intron	p.L552I	NM_018961	NP_061834	P57075	UBS3A_HUMAN			13	1690	+			552			Phosphatase-like.		G5E9E4|Q6HA34|Q6HA35|Q6ISI6|Q6ISK3|Q6ISS9	Missense_Mutation	SNP	ENST00000319294.6	37	c.1654C>A	CCDS13687.1	.	.	.	.	.	.	.	.	.	.	C	12.86	2.063617	0.36373	.	.	ENSG00000160185	ENST00000291535;ENST00000319294	T;T	0.33216	1.42;1.42	3.54	3.54	0.40534	Histidine phosphatase superfamily, clade-1 (1);	0.000000	0.52532	D	0.000064	T	0.48040	0.1478	L	0.57536	1.79	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.87578	0.996;0.998	T	0.44081	-0.9351	10	0.52906	T	0.07	-37.8489	10.9751	0.47461	0.0:1.0:0.0:0.0	.	514;552	P57075-2;P57075	.;UBS3A_HUMAN	I	514;552	ENSP00000291535:L514I;ENSP00000317327:L552I	ENSP00000291535:L514I	L	+	1	0	UBASH3A	42736513	0.951000	0.32395	0.582000	0.28627	0.005000	0.04900	1.744000	0.38268	2.285000	0.76669	0.650000	0.86243	CTC		0.597	UBASH3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000195382.1	NM_001001895		9	19	1	0	7.48243e-07	0.006214	9.20222e-07	9	19				
TRAPPC10	7109	broad.mit.edu	37	21	45522796	45522796	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr21:45522796G>A	ENST00000291574.4	+	22	3659	c.3484G>A	c.(3484-3486)Gtc>Atc	p.V1162I		NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN	trafficking protein particle complex 10	1162					sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	sodium ion transmembrane transporter activity (GO:0015081)	p.V1162I(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						CCTGCCCGACGTCAGGCTGTT	0.557																																							uc002zea.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(3484-3486)GTC>ATC		trafficking protein particle complex 10							111.0	98.0	103.0					21																	45522796		2203	4300	6503	SO:0001583	missense	7109				vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity	g.chr21:45522796G>A	U19252	CCDS13704.1	21q22.3	2008-05-07	2008-05-07	2008-05-07	ENSG00000160218	ENSG00000160218		"""Trafficking protein particle complex"""	11868	protein-coding gene	gene with protein product	"""trafficking protein particle complex subunit 130"", ""TRAPP 130 kDa subunit"""	602103	"""transmembrane protein 1"""	TMEM1		7633421	Standard	NM_003274		Approved	EHOC-1, TRS130	uc002zea.3	P48553	OTTHUMG00000086894	ENST00000291574.4:c.3484G>A	21.37:g.45522796G>A	ENSP00000291574:p.Val1162Ile					TRAPPC10_uc010gpo.2_Missense_Mutation_p.V873I|TRAPPC10_uc011afa.1_Missense_Mutation_p.V540I	p.V1162I	NM_003274	NP_003265	P48553	TPC10_HUMAN			22	3653	+			1162					Q3MIR2|Q86SI7|Q9UMD4|Q9Y4L3	Missense_Mutation	SNP	ENST00000291574.4	37	c.3484G>A	CCDS13704.1	.	.	.	.	.	.	.	.	.	.	G	15.98	2.992478	0.54041	.	.	ENSG00000160218	ENST00000291574;ENST00000542855	T	0.25250	1.81	5.23	5.23	0.72850	.	0.061225	0.64402	D	0.000004	T	0.22126	0.0533	L	0.28014	0.82	0.47994	D	0.99956	P;P	0.39311	0.667;0.639	B;B	0.38616	0.277;0.16	T	0.02126	-1.1209	10	0.27082	T	0.32	.	19.1578	0.93518	0.0:0.0:1.0:0.0	.	421;1162	B4DI17;P48553	.;TPC10_HUMAN	I	1162;293	ENSP00000291574:V1162I	ENSP00000291574:V1162I	V	+	1	0	TRAPPC10	44347224	1.000000	0.71417	1.000000	0.80357	0.859000	0.49053	4.985000	0.63845	2.585000	0.87301	0.650000	0.86243	GTC		0.557	TRAPPC10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000195737.1	NM_003274		23	56	0	0	0	0.003954	0	23	56				
AIRE	326	broad.mit.edu	37	21	45713743	45713743	+	Silent	SNP	C	C	G			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr21:45713743C>G	ENST00000291582.5	+	11	1477	c.1350C>G	c.(1348-1350)gcC>gcG	p.A450A	AIRE_ENST00000329347.4_Missense_Mutation_p.P216R|AIRE_ENST00000355347.4_Silent_p.A243A	NM_000383.3	NP_000374.1	O43918	AIRE_HUMAN	autoimmune regulator	450				CGDGTDVLRCTHCAAAFHWRCHFPAGTSRPG -> W (in Ref. 3; CAA08759). {ECO:0000305}.	humoral immune response (GO:0006959)|immune response (GO:0006955)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|transcription regulatory region DNA binding (GO:0044212)|translation regulator activity (GO:0045182)|zinc ion binding (GO:0008270)	p.A253A(1)|p.A450A(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(1)	14				Colorectal(79;0.0806)		CTCACTGCGCCGCTGCCTTCC	0.701									Autoimmune PolyEndocrinopathy Candidiasis Ectodermal Dystrophy																														uc002zei.2		NA																	2	Substitution - coding silent(2)		lung(2)	skin(1)	1						c.(1348-1350)GCC>GCG		autoimmune regulator isoform 1							51.0	41.0	45.0					21																	45713743		2195	4293	6488	SO:0001819	synonymous_variant	326	Autoimmune_PolyEndocrinopathy_Candidiasis_Ectodermal_Dystrophy	Familial Cancer Database	APECED	positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|histone binding|transcription regulatory region DNA binding|translation regulator activity|zinc ion binding	g.chr21:45713743C>G	AB006684	CCDS13706.1	21q22.3	2014-09-17	2007-06-20		ENSG00000160224	ENSG00000160224		"""Zinc fingers, PHD-type"""	360	protein-coding gene	gene with protein product	"""autoimmune polyendocrinopathy candidiasis ectodermal dystrophy"""	607358	"""autoimmune regulator (autoimmune polyendocrinopathy candidiasis ectodermal dystrophy)"""	APECED		9398840	Standard	NM_000383		Approved	PGA1, APS1	uc002zei.3	O43918	OTTHUMG00000086921	ENST00000291582.5:c.1350C>G	21.37:g.45713743C>G						AIRE_uc010gpq.2_RNA|AIRE_uc002zej.2_Silent_p.A253A|AIRE_uc010gpr.2_Silent_p.A253A	p.A450A	NM_000383	NP_000374	O43918	AIRE_HUMAN		Colorectal(79;0.0806)	11	1477	+			450	CGDGTDVLRCTHCAAAFHWRCHFPAGTSRPG -> W (in Ref. 3; CAA08759).		PHD-type 2.		B2RP50|O43922|O43932|O75745	Silent	SNP	ENST00000291582.5	37	c.1350C>G	CCDS13706.1	.	.	.	.	.	.	.	.	.	.	C	2.907	-0.226229	0.06022	.	.	ENSG00000160224	ENST00000329347	D	0.97352	-4.35	3.84	-2.22	0.06952	.	.	.	.	.	D	0.94335	0.8179	.	.	.	0.20196	N	0.999926	.	.	.	.	.	.	D	0.88486	0.3072	6	0.72032	D	0.01	-29.1668	2.6238	0.04924	0.1442:0.5179:0.1417:0.1962	.	.	.	.	R	216	ENSP00000331055:P216R	ENSP00000331055:P216R	P	+	2	0	AIRE	44538171	0.000000	0.05858	0.956000	0.39512	0.084000	0.17831	-1.137000	0.03219	-0.795000	0.04462	-1.342000	0.01247	CCG		0.701	AIRE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195842.2			4	17	0	0	0	0.000602	0	4	17				
ITGB2	3689	broad.mit.edu	37	21	46330268	46330268	+	Silent	SNP	C	C	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr21:46330268C>T	ENST00000397850.2	-	4	530	c.78G>A	c.(76-78)acG>acA	p.T26T	ITGB2_ENST00000397852.1_Silent_p.T26T|ITGB2_ENST00000397857.1_Silent_p.T26T|ITGB2_ENST00000355153.4_Silent_p.T26T|ITGB2_ENST00000523126.1_5'UTR|ITGB2_ENST00000397854.3_Silent_p.T26T|ITGB2_ENST00000302347.5_Silent_p.T26T|ITGB2_ENST00000397846.3_Silent_p.T26T			P05107	ITB2_HUMAN	integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)	26					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|neutrophil chemotaxis (GO:0030593)|receptor clustering (GO:0043113)|regulation of cell shape (GO:0008360)|regulation of immune response (GO:0050776)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|vesicle (GO:0031982)	cell adhesion molecule binding (GO:0050839)|glycoprotein binding (GO:0001948)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)	p.T26T(1)		breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	CCTTGAACTTCGTGCACTCCT	0.662																																							uc002zgd.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(4)|central_nervous_system(3)|breast(2)	9						c.(76-78)ACG>ACA		integrin, beta 2 precursor	Simvastatin(DB00641)						55.0	50.0	52.0					21																	46330268		2203	4300	6503	SO:0001819	synonymous_variant	3689				apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity	g.chr21:46330268C>T	AK222505	CCDS13716.1	21q22.3	2014-09-17	2006-03-02		ENSG00000160255	ENSG00000160255		"""CD molecules"", ""Complement system"", ""Integrins"""	6155	protein-coding gene	gene with protein product		600065	"""integrin, beta 2 (antigen CD18 (p95), lymphocyte function-associated antigen 1; macrophage antigen 1 (mac-1) beta subunit)"""	CD18, MFI7			Standard	NM_000211		Approved	LFA-1, MAC-1	uc002zgf.3	P05107	OTTHUMG00000090257	ENST00000397850.2:c.78G>A	21.37:g.46330268C>T						ITGB2_uc002zge.2_Silent_p.T26T|ITGB2_uc002zgf.3_Silent_p.T26T|ITGB2_uc011afl.1_5'UTR|ITGB2_uc010gpw.2_Silent_p.T26T|ITGB2_uc002zgg.2_Silent_p.T26T	p.T26T	NM_001127491	NP_001120963	P05107	ITB2_HUMAN		Colorectal(79;0.0669)	2	122	-			26			Extracellular (Potential).		B3KTS8|D3DSM1|Q16418|Q53HS5|Q9UD72	Silent	SNP	ENST00000397850.2	37	c.78G>A	CCDS13716.1																																																																																				0.662	ITGB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206566.2	NM_000211		4	33	0	0	0	0.000602	0	4	33				
CCT8L2	150160	broad.mit.edu	37	22	17072821	17072821	+	Missense_Mutation	SNP	G	G	C	rs376606608		TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr22:17072821G>C	ENST00000359963.3	-	1	879	c.620C>G	c.(619-621)gCg>gGg	p.A207G		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	207					anion transport (GO:0006820)|cellular protein metabolic process (GO:0044267)|potassium ion transmembrane transport (GO:0071805)|transport (GO:0006810)	cytoplasm (GO:0005737)	anion channel activity (GO:0005253)|ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)	p.A207G(1)|p.A207V(1)|p.A207E(1)		breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				CCCGGGCAGCGCGCACACCCC	0.617																																							uc002zlp.1		NA																	3	Substitution - Missense(3)	p.A207V(1)	lung(2)|ovary(1)	ovary(1)	1						c.(619-621)GCG>GGG		T-complex protein 1							64.0	63.0	63.0					22																	17072821		2203	4300	6503	SO:0001583	missense	150160				cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity	g.chr22:17072821G>C	AP003553	CCDS13738.1	22q11.1	2011-09-01			ENSG00000198445	ENSG00000198445			15553	protein-coding gene	gene with protein product							Standard	NM_014406		Approved	CESK1	uc002zlp.1	Q96SF2	OTTHUMG00000141302	ENST00000359963.3:c.620C>G	22.37:g.17072821G>C	ENSP00000353048:p.Ala207Gly						p.A207G	NM_014406	NP_055221	Q96SF2	TCPQM_HUMAN			1	880	-	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)	207					A4QPH3|Q9UJS3	Missense_Mutation	SNP	ENST00000359963.3	37	c.620C>G	CCDS13738.1	.	.	.	.	.	.	.	.	.	.	g	10.12	1.263283	0.23051	.	.	ENSG00000198445	ENST00000359963	T	0.78595	-1.19	1.78	1.78	0.24846	.	1.965940	0.03364	U	0.197938	T	0.69540	0.3122	N	0.22421	0.69	0.09310	N	1	B	0.34264	0.446	B	0.40741	0.339	T	0.59584	-0.7427	10	0.25106	T	0.35	-1.6843	7.0003	0.24805	0.0:0.0:1.0:0.0	.	207	Q96SF2	TCPQM_HUMAN	G	207	ENSP00000353048:A207G	ENSP00000353048:A207G	A	-	2	0	CCT8L2	15452821	0.385000	0.25172	0.019000	0.16419	0.030000	0.12068	0.334000	0.19787	0.995000	0.38917	0.379000	0.24179	GCG		0.617	CCT8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280580.1			21	40	0	0	0	0.00333	0	21	40				
DGCR14	8220	broad.mit.edu	37	22	19130301	19130301	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr22:19130301C>A	ENST00000252137.6	-	2	285	c.242G>T	c.(241-243)cGc>cTc	p.R81L		NM_022719.2	NP_073210.1	Q96DF8	DGC14_HUMAN	DiGeorge syndrome critical region gene 14	81					mRNA splicing, via spliceosome (GO:0000398)|nervous system development (GO:0007399)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)		p.R81L(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)	16	Colorectal(54;0.0993)					GGCAATCTGGCGCATCCGTTC	0.582																																							uc002zou.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(241-243)CGC>CTC		DiGeorge syndrome critical region protein 14							150.0	141.0	144.0					22																	19130301		2203	4300	6503	SO:0001583	missense	8220				nervous system development	catalytic step 2 spliceosome		g.chr22:19130301C>A	L77566	CCDS13756.1	22q11.21	2007-02-20			ENSG00000100056	ENSG00000100056			16817	protein-coding gene	gene with protein product		601755	"""DiGeorge syndrome critical region gene 13"""	DGCR13		8776594, 9063747	Standard	NM_022719		Approved	DGSI, Es2el, ES2, DGS-H	uc002zou.3	Q96DF8	OTTHUMG00000150119	ENST00000252137.6:c.242G>T	22.37:g.19130301C>A	ENSP00000252137:p.Arg81Leu					DGCR14_uc002zot.2_Missense_Mutation_p.R2L|DGCR14_uc002zov.2_RNA	p.R81L	NM_022719	NP_073210	Q96DF8	DGC14_HUMAN			2	279	-	Colorectal(54;0.0993)		81					Q49AH7|Q9BTZ4	Missense_Mutation	SNP	ENST00000252137.6	37	c.242G>T	CCDS13756.1	.	.	.	.	.	.	.	.	.	.	C	31	5.065577	0.93898	.	.	ENSG00000100056	ENST00000252137	T	0.49720	0.77	3.98	3.98	0.46160	.	0.000000	0.85682	D	0.000000	T	0.72985	0.3529	M	0.88570	2.965	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.80141	-0.1506	10	0.66056	D	0.02	-13.3781	15.872	0.79127	0.0:1.0:0.0:0.0	.	81	Q96DF8	DGC14_HUMAN	L	81	ENSP00000252137:R81L	ENSP00000252137:R81L	R	-	2	0	DGCR14	17510301	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.187000	0.77730	2.057000	0.61298	0.655000	0.94253	CGC		0.582	DGCR14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316432.2			28	114	1	0	9.80776e-20	0.00632	1.69316e-19	28	114				
ZDHHC8	29801	broad.mit.edu	37	22	20127706	20127706	+	Missense_Mutation	SNP	T	T	G			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr22:20127706T>G	ENST00000334554.7	+	5	767	c.626T>G	c.(625-627)gTg>gGg	p.V209G	ZDHHC8_ENST00000320602.7_Intron|ZDHHC8_ENST00000405930.3_Missense_Mutation_p.V209G|ZDHHC8_ENST00000468112.1_Intron	NM_013373.3	NP_037505.1	Q9ULC8	ZDHC8_HUMAN	zinc finger, DHHC-type containing 8	209					locomotory behavior (GO:0007626)|protein palmitoylation (GO:0018345)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)	p.V209G(1)		breast(2)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	20	Colorectal(54;0.0993)					TTCCATGTGGTGCTGGTCACT	0.642																																							uc002zrq.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(625-627)GTG>GGG		zinc finger, DHHC domain containing 8							126.0	76.0	93.0					22																	20127706		2201	4300	6501	SO:0001583	missense	29801					cytoplasmic vesicle membrane|integral to membrane	acyltransferase activity|zinc ion binding	g.chr22:20127706T>G	AB033118	CCDS13776.1, CCDS54502.1	22q11.21	2009-10-06		2003-02-28	ENSG00000099904	ENSG00000099904		"""Zinc fingers, DHHC-type"""	18474	protein-coding gene	gene with protein product		608784				10574462, 15184899	Standard	NM_013373		Approved	ZNF378, KIAA1292	uc002zrr.2	Q9ULC8	OTTHUMG00000150499	ENST00000334554.7:c.626T>G	22.37:g.20127706T>G	ENSP00000334490:p.Val209Gly					ZDHHC8_uc002zrr.1_Missense_Mutation_p.V209G|ZDHHC8_uc010gsa.2_Intron	p.V209G	NM_013373	NP_037505	Q9ULC8	ZDHC8_HUMAN			5	732	+	Colorectal(54;0.0993)		209			Helical; (Potential).		Q2TGE9|Q6ICL1|Q6ZNF5|Q7Z6L9	Missense_Mutation	SNP	ENST00000334554.7	37	c.626T>G	CCDS13776.1	.	.	.	.	.	.	.	.	.	.	T	18.74	3.689180	0.68271	.	.	ENSG00000099904	ENST00000334554;ENST00000405930	T;T	0.25414	1.8;1.8	4.24	4.24	0.50183	.	0.662267	0.14022	N	0.346747	T	0.49287	0.1548	M	0.65975	2.015	0.80722	D	1	D;P	0.89917	1.0;0.786	D;P	0.77557	0.99;0.566	T	0.48647	-0.9017	10	0.66056	D	0.02	.	13.6468	0.62286	0.0:0.0:0.0:1.0	.	209;209	Q9ULC8-3;Q9ULC8	.;ZDHC8_HUMAN	G	209	ENSP00000334490:V209G;ENSP00000384716:V209G	ENSP00000334490:V209G	V	+	2	0	ZDHHC8	18507706	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.867000	0.69597	1.663000	0.50791	0.533000	0.62120	GTG		0.642	ZDHHC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318564.1	NM_013373		5	128	0	0	0	0.001168	0	5	128				
ZDHHC8	29801	broad.mit.edu	37	22	20128827	20128827	+	Missense_Mutation	SNP	A	A	C			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr22:20128827A>C	ENST00000334554.7	+	8	1123	c.982A>C	c.(982-984)Agt>Cgt	p.S328R	ZDHHC8_ENST00000320602.7_Missense_Mutation_p.S236R|ZDHHC8_ENST00000405930.3_Missense_Mutation_p.S328R|ZDHHC8_ENST00000468112.1_3'UTR	NM_013373.3	NP_037505.1	Q9ULC8	ZDHC8_HUMAN	zinc finger, DHHC-type containing 8	328					locomotory behavior (GO:0007626)|protein palmitoylation (GO:0018345)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)	p.S328R(1)		breast(2)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	20	Colorectal(54;0.0993)					CACGTTCAGCAGTGACCTGCA	0.647																																							uc002zrq.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(982-984)AGT>CGT		zinc finger, DHHC domain containing 8							31.0	36.0	34.0					22																	20128827		2201	4300	6501	SO:0001583	missense	29801					cytoplasmic vesicle membrane|integral to membrane	acyltransferase activity|zinc ion binding	g.chr22:20128827A>C	AB033118	CCDS13776.1, CCDS54502.1	22q11.21	2009-10-06		2003-02-28	ENSG00000099904	ENSG00000099904		"""Zinc fingers, DHHC-type"""	18474	protein-coding gene	gene with protein product		608784				10574462, 15184899	Standard	NM_013373		Approved	ZNF378, KIAA1292	uc002zrr.2	Q9ULC8	OTTHUMG00000150499	ENST00000334554.7:c.982A>C	22.37:g.20128827A>C	ENSP00000334490:p.Ser328Arg					ZDHHC8_uc002zrr.1_Missense_Mutation_p.S328R|ZDHHC8_uc010gsa.2_Missense_Mutation_p.S134R	p.S328R	NM_013373	NP_037505	Q9ULC8	ZDHC8_HUMAN			8	1088	+	Colorectal(54;0.0993)		328			Cytoplasmic (Potential).		Q2TGE9|Q6ICL1|Q6ZNF5|Q7Z6L9	Missense_Mutation	SNP	ENST00000334554.7	37	c.982A>C	CCDS13776.1	.	.	.	.	.	.	.	.	.	.	.	7.251	0.603145	0.13939	.	.	ENSG00000099904	ENST00000334554;ENST00000320602;ENST00000405930	T;T;T	0.73152	1.32;-0.72;1.3	4.95	-1.77	0.07982	.	0.679120	0.15090	N	0.281122	T	0.49047	0.1534	N	0.17082	0.46	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.001;0.001;0.002	T	0.25398	-1.0133	10	0.33940	T	0.23	.	9.5066	0.39051	0.5019:0.0:0.4981:0.0	.	236;328;328	Q9ULC8-2;Q9ULC8-3;Q9ULC8	.;.;ZDHC8_HUMAN	R	328;236;328	ENSP00000334490:S328R;ENSP00000317804:S236R;ENSP00000384716:S328R	ENSP00000317804:S236R	S	+	1	0	ZDHHC8	18508827	0.002000	0.14202	0.002000	0.10522	0.158000	0.22134	0.136000	0.15974	-0.596000	0.05821	0.533000	0.62120	AGT		0.647	ZDHHC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318564.1	NM_013373		4	90	0	0	0	0.000602	0	4	90				
PI4KA	5297	broad.mit.edu	37	22	21147516	21147516	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr22:21147516C>T	ENST00000572273.1	-	19	2349	c.2119G>A	c.(2119-2121)Ggg>Agg	p.G707R	PI4KA_ENST00000466162.1_5'UTR|PI4KA_ENST00000255882.6_Missense_Mutation_p.G765R			P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	707					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi-associated vesicle membrane (GO:0030660)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)	p.G707R(2)		breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			CCCAAGTTCCCTGCACTGCTA	0.333																																					GBM(136;1332 1831 3115 23601 50806)	GBM(136;1332 1831 3115 23601 50806)	uc002zsz.3		NA																	2	Substitution - Missense(2)		lung(2)	lung(2)|upper_aerodigestive_tract(1)|salivary_gland(1)	4						c.(2119-2121)GGG>AGG		phosphatidylinositol 4-kinase type 3 alpha							126.0	116.0	119.0					22																	21147516		2203	4300	6503	SO:0001583	missense	5297				phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding	g.chr22:21147516C>T	L36151	CCDS33603.1, CCDS33603.2	22q11.21	2011-05-25	2007-08-14	2007-08-02	ENSG00000241973	ENSG00000241973			8983	protein-coding gene	gene with protein product		600286		PIK4CA		7961848, 8662589	Standard	NM_002650		Approved	PI4K-ALPHA, pi4K230	uc002zsz.5	P42356	OTTHUMG00000167440	ENST00000572273.1:c.2119G>A	22.37:g.21147516C>T	ENSP00000458238:p.Gly707Arg						p.G707R	NM_058004	NP_477352	P42356	PI4KA_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		19	2350	-	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	707					Q7Z625|Q9UPG2	Missense_Mutation	SNP	ENST00000572273.1	37	c.2119G>A		.	.	.	.	.	.	.	.	.	.	C	27.7	4.858601	0.91433	.	.	ENSG00000241973	ENST00000255882	.	.	.	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	T	0.79511	0.4458	M	0.73962	2.25	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.80466	-0.1370	9	0.54805	T	0.06	-28.3012	18.6746	0.91524	0.0:1.0:0.0:0.0	.	707	P42356	PI4KA_HUMAN	R	707	.	ENSP00000255882:G707R	G	-	1	0	PI4KA	19477516	1.000000	0.71417	0.983000	0.44433	0.850000	0.48378	7.518000	0.81795	2.653000	0.90120	0.655000	0.94253	GGG		0.333	PI4KA-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_058004		6	473	0	0	0	0.001984	0	6	473				
LZTR1	8216	broad.mit.edu	37	22	21349315	21349315	+	Splice_Site	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr22:21349315G>T	ENST00000215739.8	+	16	2301	c.1942G>T	c.(1942-1944)Ggc>Tgc	p.G648C	LZTR1_ENST00000479606.1_3'UTR|LZTR1_ENST00000389355.3_Splice_Site_p.G629C	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	648					anatomical structure morphogenesis (GO:0009653)|regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G648C(1)		breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			AGTGGACATTGGTAGGGAGCC	0.647																																							uc002zto.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(2)	4						c.(1942-1944)GGC>TGC		leucine-zipper-like transcription regulator 1							42.0	45.0	44.0					22																	21349315		2202	4298	6500	SO:0001630	splice_region_variant	8216				anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity	g.chr22:21349315G>T	D38496	CCDS33606.1	22q11.21	2013-01-09	2004-12-10		ENSG00000099949	ENSG00000099949		"""BTB/POZ domain containing"""	6742	protein-coding gene	gene with protein product		600574	"""leucine-zipper-like transcriptional regulator 1"""			7633402, 16356934	Standard	NM_006767		Approved	LZTR-1, BTBD29	uc002zto.3	Q8N653	OTTHUMG00000150878	ENST00000215739.8:c.1942+1G>T	22.37:g.21349315G>T						LZTR1_uc002ztn.2_Missense_Mutation_p.G607C|LZTR1_uc011ahy.1_Missense_Mutation_p.G629C|LZTR1_uc002ztp.2_5'Flank	p.G648C	NM_006767	NP_006758	Q8N653	LZTR1_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		16	2045	+	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	648					Q14776|Q20WK0	Missense_Mutation	SNP	ENST00000215739.8	37	c.1942G>T	CCDS33606.1	.	.	.	.	.	.	.	.	.	.	g	18.76	3.693184	0.68271	.	.	ENSG00000099949	ENST00000539817;ENST00000215739;ENST00000389355	T;T	0.58940	0.71;0.3	5.28	5.28	0.74379	BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	T	0.73776	0.3630	M	0.64404	1.975	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.97110	0.936;0.936;1.0	T	0.75717	-0.3220	10	0.62326	D	0.03	-39.3757	16.404	0.83652	0.0:0.0:1.0:0.0	.	629;648;607	B7Z3T9;Q8N653;F5GXU8	.;LZTR1_HUMAN;.	C	607;648;629	ENSP00000215739:G648C;ENSP00000374006:G629C	ENSP00000215739:G648C	G	+	1	0	LZTR1	19679315	1.000000	0.71417	0.995000	0.50966	0.235000	0.25334	9.311000	0.96282	2.456000	0.83038	0.556000	0.70494	GGC		0.647	LZTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320387.1	NM_006767	Missense_Mutation	343	36	1	0	4.40133e-195	0.00361	8.55163e-195	343	36				
P2RX6	9127	broad.mit.edu	37	22	21380577	21380577	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr22:21380577G>T	ENST00000413302.2	+	11	1235	c.1087G>T	c.(1087-1089)Gat>Tat	p.D363Y	P2RX6_ENST00000402329.3_3'UTR|P2RX6_ENST00000443995.3_Missense_Mutation_p.D310Y|P2RX6_ENST00000336296.2_Missense_Mutation_p.D353Y|P2RX6_ENST00000401443.1_Missense_Mutation_p.D337Y			O15547	P2RX6_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 6	363					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|muscle contraction (GO:0006936)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|purinergic nucleotide receptor signaling pathway (GO:0035590)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|channel activity (GO:0015267)|extracellular ATP-gated cation channel activity (GO:0004931)|identical protein binding (GO:0042802)|purinergic nucleotide receptor activity (GO:0001614)|transmembrane signaling receptor activity (GO:0004888)	p.D353Y(1)									GCTGTATGTGGATAGAGAAGC	0.572																																							uc010gsu.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1087-1089)GAT>TAT		purinergic receptor P2X6 isoform 1							52.0	46.0	48.0					22																	21380577		2199	4297	6496	SO:0001583	missense	9127				muscle contraction|protein homooligomerization	cell junction|cytoplasm|integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|identical protein binding|purinergic nucleotide receptor activity	g.chr22:21380577G>T		CCDS13788.2, CCDS54504.1	22q11.21	2012-01-17	2008-03-28	2008-03-28	ENSG00000099957	ENSG00000099957		"""Purinergic receptors"", ""Ligand-gated ion channels / Purinergic receptors, ionotropic"""	8538	protein-coding gene	gene with protein product		608077	"""purinergic receptor P2X-like 1, orphan receptor"""	P2RXL1		9242461, 10591208, 8786426	Standard	NM_005446		Approved	P2XM, MGC129625, P2X6	uc010gsu.1	O15547	OTTHUMG00000150689	ENST00000413302.2:c.1087G>T	22.37:g.21380577G>T	ENSP00000416193:p.Asp363Tyr					P2RX6_uc002ztz.2_Missense_Mutation_p.D337Y|P2RX6_uc002zua.2_RNA|P2RX6_uc002zuc.1_RNA	p.D363Y	NM_005446	NP_005437	O15547	P2RX6_HUMAN			11	1087	+			363			Cytoplasmic (Potential).		F6V3D7|Q32MB6|Q58F04|Q6IC33|Q9UL50	Missense_Mutation	SNP	ENST00000413302.2	37	c.1087G>T	CCDS13788.2	.	.	.	.	.	.	.	.	.	.	G	19.47	3.833851	0.71258	.	.	ENSG00000099957	ENST00000413302;ENST00000336296;ENST00000401443;ENST00000443995	T;T;T;T	0.04156	3.69;3.69;3.69;3.69	5.48	4.47	0.54385	.	0.381500	0.21777	N	0.069262	T	0.14874	0.0359	L	0.57536	1.79	0.39944	D	0.974457	D;D	0.89917	1.0;1.0	D;D	0.76071	0.987;0.977	T	0.16158	-1.0412	10	0.16420	T	0.52	-19.0967	12.4717	0.55792	0.0819:0.0:0.9181:0.0	.	363;337	O15547;F6V3D7	P2RX6_HUMAN;.	Y	363;353;337;310	ENSP00000416193:D363Y;ENSP00000338797:D353Y;ENSP00000385309:D337Y;ENSP00000408088:D310Y	ENSP00000338797:D353Y	D	+	1	0	P2RX6	19710577	1.000000	0.71417	0.980000	0.43619	0.938000	0.57974	1.914000	0.39966	1.456000	0.47831	0.655000	0.94253	GAT		0.572	P2RX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319625.2	NM_005446		7	97	1	0	5.68852e-11	0.004482	8.1424e-11	7	97				
VPREB1	7441	broad.mit.edu	37	22	22599662	22599662	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr22:22599662G>T	ENST00000403807.3	+	2	490	c.351G>T	c.(349-351)atG>atT	p.M117I	VPREB1_ENST00000302273.2_Missense_Mutation_p.M116I			P12018	VPREB_HUMAN	pre-B lymphocyte 1	117	Ig-like V-type.							p.M117I(1)		large_intestine(1)|liver(1)|lung(6)|skin(1)	9	all_hematologic(9;0.0312)|Acute lymphoblastic leukemia(84;0.155)	all_cancers(3;3.14e-14)|Acute lymphoblastic leukemia(3;2.97e-57)|all_hematologic(3;5.9e-52)		READ - Rectum adenocarcinoma(21;0.145)		ACTGTGCTATGGGGGCCCGCA	0.572																																							uc002zvx.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(349-351)ATG>ATT		immunoglobulin iota chain precursor							19.0	21.0	20.0					22																	22599662		2197	4295	6492	SO:0001583	missense	7441				immune response	extracellular region	antigen binding|protein binding	g.chr22:22599662G>T	M34927	CCDS13798.1	22q11.2	2014-05-16	2008-09-12		ENSG00000169575	ENSG00000169575		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	12709	protein-coding gene	gene with protein product		605141				3139558	Standard	NM_007128		Approved	VpreB, CD179A	uc002zvx.1	P12018	OTTHUMG00000151042	ENST00000403807.3:c.351G>T	22.37:g.22599662G>T	ENSP00000385361:p.Met117Ile					LOC96610_uc011aim.1_Intron	p.M117I	NM_007128	NP_009059	P12018	VPREB_HUMAN		READ - Rectum adenocarcinoma(21;0.145)	2	377	+	all_hematologic(9;0.0312)|Acute lymphoblastic leukemia(84;0.155)	all_cancers(3;3.14e-14)|Acute lymphoblastic leukemia(3;2.97e-57)|all_hematologic(3;5.9e-52)	117			Ig-like V-type.		B5MCG2	Missense_Mutation	SNP	ENST00000403807.3	37	c.351G>T	CCDS13798.1	.	.	.	.	.	.	.	.	.	.	g	3.136	-0.177394	0.06380	.	.	ENSG00000169575	ENST00000403807;ENST00000302273	T;T	0.61742	0.08;0.08	3.35	1.08	0.20341	Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin V-set, subgroup (1);Immunoglobulin-like fold (1);	1.018070	0.07882	N	0.969593	T	0.32164	0.0820	N	0.13168	0.305	0.09310	N	1	B	0.21147	0.052	B	0.17433	0.018	T	0.23797	-1.0178	10	0.06891	T	0.86	.	4.079	0.09917	0.1162:0.0:0.4617:0.4221	.	117	P12018	VPREB_HUMAN	I	117;116	ENSP00000385361:M117I;ENSP00000304590:M116I	ENSP00000304590:M116I	M	+	3	0	VPREB1	20929662	0.965000	0.33210	0.222000	0.23844	0.002000	0.02628	0.906000	0.28517	0.386000	0.24997	-0.187000	0.12897	ATG		0.572	VPREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321101.1			9	16	1	0	1.76689e-08	0.006214	2.29449e-08	9	16				
SUSD2	56241	broad.mit.edu	37	22	24582315	24582315	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr22:24582315G>T	ENST00000358321.3	+	10	1835	c.1574G>T	c.(1573-1575)gGa>gTa	p.G525V		NM_019601.3	NP_062547.1	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2	525	VWFD. {ECO:0000255|PROSITE- ProRule:PRU00580}.				immune response (GO:0006955)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)	p.G525V(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						AACAGGACCGGAGGTCTGGAG	0.652																																							uc002zzn.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1573-1575)GGA>GTA		sushi domain containing 2 precursor							105.0	80.0	89.0					22																	24582315		2203	4300	6503	SO:0001583	missense	56241				immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity	g.chr22:24582315G>T	AK026431	CCDS13824.1	22q11-q12	2005-08-16			ENSG00000099994	ENSG00000099994			30667	protein-coding gene	gene with protein product		615825				12477932	Standard	NM_019601		Approved	BK65A6.2, FLJ22778	uc002zzn.1	Q9UGT4	OTTHUMG00000150792	ENST00000358321.3:c.1574G>T	22.37:g.24582315G>T	ENSP00000351075:p.Gly525Val						p.G525V	NM_019601	NP_062547	Q9UGT4	SUSD2_HUMAN			10	1618	+			525			VWFD.|Extracellular (Potential).		Q9H5Y6	Missense_Mutation	SNP	ENST00000358321.3	37	c.1574G>T	CCDS13824.1	.	.	.	.	.	.	.	.	.	.	G	4.601	0.111635	0.08831	.	.	ENSG00000099994	ENST00000358321	T	0.21734	1.99	4.83	-0.408	0.12381	von Willebrand factor, type D domain (3);	1.260870	0.05012	N	0.471181	T	0.15176	0.0366	L	0.48642	1.525	0.09310	N	0.999994	B	0.09022	0.002	B	0.17722	0.019	T	0.29305	-1.0016	10	0.11794	T	0.64	-9.1315	1.2597	0.01999	0.2632:0.1487:0.4355:0.1526	.	525	Q9UGT4	SUSD2_HUMAN	V	525	ENSP00000351075:G525V	ENSP00000351075:G525V	G	+	2	0	SUSD2	22912315	0.000000	0.05858	0.001000	0.08648	0.013000	0.08279	0.013000	0.13310	0.160000	0.19432	0.555000	0.69702	GGA		0.652	SUSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320088.1	NM_019601		9	25	1	0	5.4927e-09	0.004482	7.29032e-09	9	25				
GUCD1	83606	broad.mit.edu	37	22	24939994	24939994	+	Silent	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr22:24939994C>A	ENST00000407471.3	-	5	634	c.444G>T	c.(442-444)gtG>gtT	p.V148V	GUCD1_ENST00000435822.1_Silent_p.V148V|GUCD1_ENST00000404664.3_Silent_p.V204V|GUCD1_ENST00000402766.1_Intron|GUCD1_ENST00000490922.1_Intron|GUCD1_ENST00000447813.2_Intron	NM_001284251.1	NP_001271180.1	Q96NT3	GUCD1_HUMAN	guanylyl cyclase domain containing 1	148								p.V148V(1)									AGTTCACCAGCACGATGGCCA	0.652																																							uc003aah.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(442-444)GTG>GTT		chromosome 22 open reading frame 13							76.0	60.0	65.0					22																	24939994		2203	4300	6503	SO:0001819	synonymous_variant	83606							g.chr22:24939994C>A	AK054681	CCDS33621.1, CCDS63426.1, CCDS63427.1, CCDS74831.1, CCDS74832.1, CCDS74833.1	22q11.2	2012-11-13	2012-11-13	2012-11-13	ENSG00000138867	ENSG00000138867			14237	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 13"""	C22orf13		12477932	Standard	XM_005261761		Approved	MGC1842, LLN4	uc003aah.2	Q96NT3	OTTHUMG00000150728	ENST00000407471.3:c.444G>T	22.37:g.24939994C>A						C22orf13_uc003aal.2_Silent_p.V204V|C22orf13_uc003aai.3_Intron|C22orf13_uc003aaj.3_Silent_p.V148V|C22orf13_uc003aak.3_Silent_p.V204V	p.V148V	NM_031444	NP_113632	Q96NT3	CV013_HUMAN			5	760	-			148					B5MCB8|B5MCL7|Q96Q79|Q9BU32	Silent	SNP	ENST00000407471.3	37	c.444G>T	CCDS33621.1																																																																																				0.652	GUCD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319819.1	NM_031444		10	25	1	0	1.76689e-08	0.006214	2.29449e-08	10	25				
LIMK2	3985	broad.mit.edu	37	22	31661989	31661989	+	Silent	SNP	G	G	C			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr22:31661989G>C	ENST00000331728.4	+	8	1026	c.912G>C	c.(910-912)ctG>ctC	p.L304L	LIMK2_ENST00000340552.4_Silent_p.L283L|LIMK2_ENST00000406516.1_Silent_p.L226L|LIMK2_ENST00000444929.2_Silent_p.L58L|LIMK2_ENST00000333611.4_Silent_p.L283L	NM_005569.3	NP_005560.1	P53671	LIMK2_HUMAN	LIM domain kinase 2	304					phosphorylation (GO:0016310)|spermatogenesis (GO:0007283)	cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)	p.L283L(1)|p.L304L(1)		endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1)	29						AGCCCCTGCTGTTCAGCCGTG	0.572																																							uc003akh.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(2)	2						c.(910-912)CTG>CTC		LIM domain kinase 2 isoform 2a							82.0	82.0	82.0					22																	31661989		2203	4300	6503	SO:0001819	synonymous_variant	3985					mitochondrion|nucleus	ATP binding|protein serine/threonine kinase activity|zinc ion binding	g.chr22:31661989G>C	D45906	CCDS13891.1, CCDS13892.1, CCDS33637.1	22q12	2005-01-21			ENSG00000182541	ENSG00000182541			6614	protein-coding gene	gene with protein product		601988				8537403, 10591208	Standard	NM_005569		Approved		uc003akh.3	P53671	OTTHUMG00000151251	ENST00000331728.4:c.912G>C	22.37:g.31661989G>C						LIMK2_uc003akg.2_Silent_p.L221L|LIMK2_uc003aki.2_Silent_p.L58L|LIMK2_uc003akj.2_Silent_p.L283L|LIMK2_uc003akk.2_Silent_p.L283L|LIMK2_uc011aln.1_Silent_p.L221L	p.L304L	NM_005569	NP_005560	P53671	LIMK2_HUMAN			8	1057	+			304					A8K6H5|Q7KZ80|Q7L3H5|Q96E10|Q99464|Q9UFU0	Silent	SNP	ENST00000331728.4	37	c.912G>C	CCDS13891.1																																																																																				0.572	LIMK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321911.1	NM_016733		24	58	0	0	0	0.00333	0	24	58				
ISX	91464	broad.mit.edu	37	22	35478514	35478514	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr22:35478514G>A	ENST00000308700.6	+	2	1185	c.233G>A	c.(232-234)gGa>gAa	p.G78E	ISX_ENST00000404699.2_Missense_Mutation_p.G78E	NM_001008494.1	NP_001008494.1	Q2M1V0	ISX_HUMAN	intestine-specific homeobox	78					regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of vitamin A metabolic process (GO:1901738)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.G78E(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(12)|ovary(3)|prostate(1)|skin(4)	26						CATGCAGAAGGAAGGAAGAGC	0.547																																							uc003anj.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)	5						c.(232-234)GGA>GAA		intestine-specific homeobox							127.0	106.0	113.0					22																	35478514		2203	4300	6503	SO:0001583	missense	91464					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr22:35478514G>A	AK025181	CCDS33640.1	22q12.3	2011-06-20			ENSG00000175329	ENSG00000175329		"""Homeoboxes / PRD class"""	28084	protein-coding gene	gene with protein product		612019					Standard	NM_001008494		Approved	RAXLX	uc003anj.3	Q2M1V0	OTTHUMG00000150962	ENST00000308700.6:c.233G>A	22.37:g.35478514G>A	ENSP00000311492:p.Gly78Glu					ISX_uc011amg.1_Missense_Mutation_p.G66E	p.G78E	NM_001008494	NP_001008494	Q2M1V0	ISX_HUMAN			2	1184	+			78					Q68DJ5	Missense_Mutation	SNP	ENST00000308700.6	37	c.233G>A	CCDS33640.1	.	.	.	.	.	.	.	.	.	.	G	0.277	-0.988791	0.02162	.	.	ENSG00000175329	ENST00000308700;ENST00000404699	D;D	0.95656	-3.77;-3.77	4.94	0.314	0.15847	Homeodomain-related (1);Homeodomain-like (1);	0.653243	0.14110	N	0.340742	D	0.82990	0.5157	N	0.03050	-0.425	0.31981	N	0.605882	B	0.02656	0.0	B	0.04013	0.001	T	0.73990	-0.3808	10	0.02654	T	1	.	8.4593	0.32919	0.6486:0.0:0.3514:0.0	.	78	Q2M1V0	ISX_HUMAN	E	78	ENSP00000311492:G78E;ENSP00000386037:G78E	ENSP00000311492:G78E	G	+	2	0	ISX	33808514	1.000000	0.71417	0.984000	0.44739	0.560000	0.35617	1.799000	0.38824	-0.195000	0.10382	-0.312000	0.09012	GGA		0.547	ISX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320662.1	NM_001008494		10	34	0	0	0	0.008291	0	10	34				
APOL6	80830	broad.mit.edu	37	22	36055359	36055359	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr22:36055359G>T	ENST00000409652.4	+	3	1024	c.748G>T	c.(748-750)Gcc>Tcc	p.A250S		NM_030641.3	NP_085144.1	Q9BWW8	APOL6_HUMAN	apolipoprotein L, 6	250					lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	lipid binding (GO:0008289)	p.A250S(1)		haematopoietic_and_lymphoid_tissue(1)|lung(4)	5						CTATGACTTGGCCACTCTCTC	0.542																																							uc003aoe.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(748-750)GCC>TCC		apolipoprotein L6							80.0	74.0	76.0					22																	36055359		2203	4300	6503	SO:0001583	missense	80830				lipoprotein metabolic process	cytoplasm|extracellular region	lipid binding|lipid transporter activity	g.chr22:36055359G>T	AY014879	CCDS13919.1	22q12.3	2013-01-24			ENSG00000221963	ENSG00000221963		"""Apolipoproteins"""	14870	protein-coding gene	gene with protein product		607256				11374903, 15671246	Standard	NM_030641		Approved	APOL-VI, APOLVI	uc003aoe.3	Q9BWW8	OTTHUMG00000150615	ENST00000409652.4:c.748G>T	22.37:g.36055359G>T	ENSP00000386280:p.Ala250Ser					APOL6_uc003aod.2_RNA	p.A250S	NM_030641	NP_085144	Q9BWW8	APOL6_HUMAN			3	1042	+			250					Q5R3S1|Q658J1|Q8IXX6|Q9UGG1	Missense_Mutation	SNP	ENST00000409652.4	37	c.748G>T	CCDS13919.1	.	.	.	.	.	.	.	.	.	.	G	8.247	0.808196	0.16467	.	.	ENSG00000221963	ENST00000409652	T	0.03358	3.96	4.26	-8.53	0.00916	.	1.934130	0.02312	N	0.072212	T	0.04227	0.0117	M	0.72118	2.19	0.09310	N	1	B	0.31256	0.316	B	0.32864	0.154	T	0.35525	-0.9785	10	0.27082	T	0.32	-8.0506	0.4891	0.00561	0.2549:0.2007:0.1471:0.3973	.	250	Q9BWW8	APOL6_HUMAN	S	250	ENSP00000386280:A250S	ENSP00000386280:A250S	A	+	1	0	APOL6	34385305	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.745000	0.01831	-1.578000	0.01648	-0.122000	0.15005	GCC		0.542	APOL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319081.2	NM_030641		9	38	1	0	5.4927e-09	0.004482	7.29032e-09	9	38				
PICK1	9463	broad.mit.edu	37	22	38468617	38468617	+	Splice_Site	SNP	G	G	A	rs202006345		TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr22:38468617G>A	ENST00000404072.3	+	9	1037	c.690G>A	c.(688-690)ccG>ccA	p.P230P	PICK1_ENST00000356976.3_Splice_Site_p.P230P|RP5-1039K5.13_ENST00000445483.1_RNA	NM_001039583.1|NM_001039584.1	NP_001034672.1|NP_001034673.1	Q9NRD5	PICK1_HUMAN	protein interacting with PRKCA 1	230	AH. {ECO:0000255|PROSITE- ProRule:PRU00294}.				ATP catabolic process (GO:0006200)|cellular response to decreased oxygen levels (GO:0036294)|cellular response to glucose starvation (GO:0042149)|dendritic spine maintenance (GO:0097062)|dendritic spine organization (GO:0097061)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|glial cell development (GO:0021782)|long term synaptic depression (GO:0060292)|monoamine transport (GO:0015844)|negative regulation of Arp2/3 complex-mediated actin nucleation (GO:0034316)|neuronal ion channel clustering (GO:0045161)|positive regulation of receptor internalization (GO:0002092)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)|protein targeting (GO:0006605)|receptor clustering (GO:0043113)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|endocytic vesicle membrane (GO:0030666)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synapse (GO:0045202)	actin filament binding (GO:0051015)|Arp2/3 complex binding (GO:0071933)|ATPase activity (GO:0016887)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein kinase C binding (GO:0005080)|receptor binding (GO:0005102)	p.P230P(1)		cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13	Melanoma(58;0.045)					CCATCAAGCCGGTAGGTCCTA	0.592													G|||	1	0.000199681	0.0	0.0	5008	,	,		21385	0.0		0.001	False		,,,				2504	0.0						uc003auq.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(688-690)CCG>CCA		protein interacting with C kinase 1		G	,,	0,4406		0,0,2203	77.0	80.0	79.0		690,690,690	1.5	1.0	22		79	1,8597	1.2+/-3.3	0,1,4298	yes	coding-synonymous-near-splice,coding-synonymous-near-splice,coding-synonymous-near-splice	PICK1	NM_001039583.1,NM_001039584.1,NM_012407.3	,,	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	,,	230/416,230/416,230/416	38468617	1,13003	2203	4299	6502	SO:0001630	splice_region_variant	9463				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|DNA methylation involved in embryo development|DNA methylation involved in gamete generation|monoamine transport|neuronal ion channel clustering|protein phosphorylation|receptor clustering|retrograde vesicle-mediated transport, Golgi to ER|synaptic transmission	cell junction|endocytic vesicle membrane|Golgi apparatus|perinuclear region of cytoplasm|presynaptic membrane	ATPase activity|metal ion binding|protein C-terminus binding|protein kinase C binding|receptor binding	g.chr22:38468617G>A	AL049654	CCDS13965.1	22q13.1	2006-02-14	2006-02-14	2006-02-14	ENSG00000100151	ENSG00000100151			9394	protein-coding gene	gene with protein product		605926	"""protein kinase C, alpha binding protein"", ""protein interacting with PRKCA"""	PRKCABP		10340301, 10591208	Standard	XM_006724377		Approved	dJ1039K5, MGC15204	uc003aus.3	Q9NRD5	OTTHUMG00000151159	ENST00000404072.3:c.690+1G>A	22.37:g.38468617G>A						PICK1_uc003aur.2_Silent_p.P230P|PICK1_uc003aus.2_Silent_p.P230P|PICK1_uc003aut.2_Silent_p.P230P	p.P230P	NM_012407	NP_036539	Q9NRD5	PICK1_HUMAN			9	1080	+	Melanoma(58;0.045)		230			AH.		B3KS52|O95906	Silent	SNP	ENST00000404072.3	37	c.690G>A	CCDS13965.1																																																																																				0.592	PICK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321569.2	NM_012407	Silent	21	60	0	0	0	0.004656	0	21	60				
KCNJ4	3761	broad.mit.edu	37	22	38823948	38823948	+	Missense_Mutation	SNP	C	C	A	rs147603955		TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr22:38823948C>A	ENST00000303592.3	-	2	448	c.190G>T	c.(190-192)Gcg>Tcg	p.A64S	RP3-434P1.6_ENST00000433230.1_RNA	NM_004981.1|NM_152868.2	NP_004972.1|NP_690607.1	P48050	KCNJ4_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 4	64					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)|PDZ domain binding (GO:0030165)	p.A64S(1)		endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23	Melanoma(58;0.0286)					AGGAAGGCCGCGGAGAAGATC	0.617																																							uc003avs.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(190-192)GCG>TCG		potassium inwardly-rectifying channel J4							174.0	112.0	133.0					22																	38823948		2203	4300	6503	SO:0001583	missense	3761				synaptic transmission	basolateral plasma membrane|voltage-gated potassium channel complex	inward rectifier potassium channel activity|PDZ domain binding	g.chr22:38823948C>A	U07364	CCDS13971.1	22q13.1	2011-07-05			ENSG00000168135	ENSG00000168135		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6265	protein-coding gene	gene with protein product		600504				8016146, 16382105	Standard	NM_152868		Approved	Kir2.3, HIR, HRK1, hIRK2, IRK3	uc003avs.1	P48050	OTTHUMG00000151131	ENST00000303592.3:c.190G>T	22.37:g.38823948C>A	ENSP00000306497:p.Ala64Ser					KCNJ4_uc003avt.1_Missense_Mutation_p.A64S	p.A64S	NM_004981	NP_004972	P48050	IRK4_HUMAN			2	287	-	Melanoma(58;0.0286)		64			Helical; Name=M1; (By similarity).		Q14D44	Missense_Mutation	SNP	ENST00000303592.3	37	c.190G>T	CCDS13971.1	.	.	.	.	.	.	.	.	.	.	C	13.31	2.198664	0.38806	.	.	ENSG00000168135	ENST00000303592	D	0.95980	-3.87	4.86	4.86	0.63082	Potassium channel, inwardly rectifying, Kir, conserved region 2 (2);	0.180938	0.49305	D	0.000158	D	0.90765	0.7101	N	0.13352	0.335	0.35587	D	0.806732	B	0.34313	0.448	B	0.33960	0.173	D	0.92657	0.6138	10	0.46703	T	0.11	.	18.4317	0.90628	0.0:1.0:0.0:0.0	.	64	P48050	IRK4_HUMAN	S	64	ENSP00000306497:A64S	ENSP00000306497:A64S	A	-	1	0	KCNJ4	37153894	0.985000	0.35326	1.000000	0.80357	0.968000	0.65278	2.530000	0.45641	2.428000	0.82296	0.555000	0.69702	GCG		0.617	KCNJ4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321447.1	NM_004981		27	41	1	0	1.77063e-15	0.005443	2.88151e-15	27	41				
TTLL12	23170	broad.mit.edu	37	22	43575638	43575638	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr22:43575638G>C	ENST00000216129.6	-	5	890	c.827C>G	c.(826-828)gCc>gGc	p.A276G		NM_015140.3	NP_055955.1	Q14166	TTL12_HUMAN	tubulin tyrosine ligase-like family, member 12	276					cellular protein modification process (GO:0006464)			p.A276G(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	13		Ovarian(80;0.221)|Glioma(61;0.222)				GTAGTGCTCGGCGGGCGGCTC	0.622																																							uc003bdq.2		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(826-828)GCC>GGC		tubulin tyrosine ligase-like family, member 12							54.0	58.0	57.0					22																	43575638		2203	4300	6503	SO:0001583	missense	23170				protein modification process		tubulin-tyrosine ligase activity	g.chr22:43575638G>C	D63487	CCDS14047.1	22q13.31	2013-02-14	2006-02-02		ENSG00000100304	ENSG00000100304		"""Tubulin tyrosine ligase-like family"""	28974	protein-coding gene	gene with protein product						15890843	Standard	NM_015140		Approved	KIAA0153	uc003bdp.3	Q14166	OTTHUMG00000150682	ENST00000216129.6:c.827C>G	22.37:g.43575638G>C	ENSP00000216129:p.Ala276Gly					TTLL12_uc003bdr.1_Missense_Mutation_p.A276G	p.A276G	NM_015140	NP_055955	Q14166	TTL12_HUMAN			5	859	-		Ovarian(80;0.221)|Glioma(61;0.222)	276					Q20WK5|Q9UGU3	Missense_Mutation	SNP	ENST00000216129.6	37	c.827C>G	CCDS14047.1	.	.	.	.	.	.	.	.	.	.	G	2.026	-0.423501	0.04734	.	.	ENSG00000100304	ENST00000216129;ENST00000423379	T	0.47177	0.85	5.46	2.14	0.27477	.	0.328055	0.34750	N	0.003708	T	0.45875	0.1364	M	0.71036	2.16	0.09310	N	1	B;B	0.25850	0.136;0.037	B;B	0.20184	0.028;0.028	T	0.33369	-0.9871	10	0.27082	T	0.32	-38.2096	15.4021	0.74849	0.0:0.0:0.6911:0.3089	.	276;276	B1AH89;Q14166	.;TTL12_HUMAN	G	276	ENSP00000216129:A276G	ENSP00000216129:A276G	A	-	2	0	TTLL12	41905582	0.877000	0.30153	0.000000	0.03702	0.031000	0.12232	1.505000	0.35736	0.159000	0.19401	0.591000	0.81541	GCC		0.622	TTLL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319611.1	NM_015140		3	66	0	0	0	0.009096	0	3	66				
TTLL12	23170	broad.mit.edu	37	22	43576790	43576790	+	Silent	SNP	C	C	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr22:43576790C>T	ENST00000216129.6	-	3	567	c.504G>A	c.(502-504)gaG>gaA	p.E168E		NM_015140.3	NP_055955.1	Q14166	TTL12_HUMAN	tubulin tyrosine ligase-like family, member 12	168					cellular protein modification process (GO:0006464)			p.E168E(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	13		Ovarian(80;0.221)|Glioma(61;0.222)				TCCACATCTCCTCCAGCACCA	0.657																																							uc003bdq.2		NA																	1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(502-504)GAG>GAA		tubulin tyrosine ligase-like family, member 12							101.0	86.0	91.0					22																	43576790		2203	4300	6503	SO:0001819	synonymous_variant	23170				protein modification process		tubulin-tyrosine ligase activity	g.chr22:43576790C>T	D63487	CCDS14047.1	22q13.31	2013-02-14	2006-02-02		ENSG00000100304	ENSG00000100304		"""Tubulin tyrosine ligase-like family"""	28974	protein-coding gene	gene with protein product						15890843	Standard	NM_015140		Approved	KIAA0153	uc003bdp.3	Q14166	OTTHUMG00000150682	ENST00000216129.6:c.504G>A	22.37:g.43576790C>T						TTLL12_uc003bdr.1_Silent_p.E168E	p.E168E	NM_015140	NP_055955	Q14166	TTL12_HUMAN			3	536	-		Ovarian(80;0.221)|Glioma(61;0.222)	168					Q20WK5|Q9UGU3	Silent	SNP	ENST00000216129.6	37	c.504G>A	CCDS14047.1																																																																																				0.657	TTLL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319611.1	NM_015140		38	69	0	0	0	0.006999	0	38	69				
CELSR1	9620	broad.mit.edu	37	22	46795763	46795763	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr22:46795763C>A	ENST00000262738.3	-	10	5262	c.5263G>T	c.(5263-5265)Ggc>Tgc	p.G1755C		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1755	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)	p.G1755C(1)		breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		TCGGAGGGGCCGTGGGACACC	0.547																																							uc003bhw.1		NA																	1	Substitution - Missense(1)		lung(1)	lung(4)|breast(4)|pancreas(2)|skin(1)	11						c.(5263-5265)GGC>TGC		cadherin EGF LAG seven-pass G-type receptor 1							106.0	81.0	90.0					22																	46795763		2203	4300	6503	SO:0001583	missense	9620				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity	g.chr22:46795763C>A	AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	1850	protein-coding gene	gene with protein product	"""flamingo homolog 2 (Drosophila)"""	604523	"""cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"""			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.5263G>T	22.37:g.46795763C>A	ENSP00000262738:p.Gly1755Cys					CELSR1_uc011arc.1_Missense_Mutation_p.G76C	p.G1755C	NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)	10	5263	-		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)	1755			Extracellular (Potential).|Laminin G-like 2.		O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Missense_Mutation	SNP	ENST00000262738.3	37	c.5263G>T	CCDS14076.1	.	.	.	.	.	.	.	.	.	.	C	16.26	3.073009	0.55646	.	.	ENSG00000075275	ENST00000262738	T	0.77229	-1.08	5.63	5.63	0.86233	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.080302	0.50627	U	0.000107	D	0.89054	0.6606	M	0.81802	2.56	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76071	0.987;0.984	D	0.89758	0.3945	10	0.72032	D	0.01	.	19.2996	0.94138	0.0:1.0:0.0:0.0	.	76;1755	B7Z7U7;Q9NYQ6	.;CELR1_HUMAN	C	1755	ENSP00000262738:G1755C	ENSP00000262738:G1755C	G	-	1	0	CELSR1	45174427	0.185000	0.23213	0.330000	0.25442	0.092000	0.18411	1.204000	0.32296	2.664000	0.90586	0.563000	0.77884	GGC		0.547	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1	NM_014246		11	33	1	0	0.00185496	0.001855	0.00201036	11	33				
CELSR1	9620	broad.mit.edu	37	22	46931390	46931390	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr22:46931390C>A	ENST00000262738.3	-	1	1677	c.1678G>T	c.(1678-1680)Gac>Tac	p.D560Y	CELSR1_ENST00000497509.1_5'Flank|CELSR1_ENST00000395964.1_Missense_Mutation_p.D560Y	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	560	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)	p.D560Y(1)		breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		GGCTCGTTGTCGTTGACATCC	0.607																																							uc003bhw.1		NA																	1	Substitution - Missense(1)		lung(1)	lung(4)|breast(4)|pancreas(2)|skin(1)	11						c.(1678-1680)GAC>TAC		cadherin EGF LAG seven-pass G-type receptor 1							50.0	52.0	51.0					22																	46931390		2203	4300	6503	SO:0001583	missense	9620				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity	g.chr22:46931390C>A	AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	1850	protein-coding gene	gene with protein product	"""flamingo homolog 2 (Drosophila)"""	604523	"""cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"""			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.1678G>T	22.37:g.46931390C>A	ENSP00000262738:p.Asp560Tyr						p.D560Y	NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)	1	1678	-		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)	560			Extracellular (Potential).|Cadherin 3.		O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Missense_Mutation	SNP	ENST00000262738.3	37	c.1678G>T	CCDS14076.1	.	.	.	.	.	.	.	.	.	.	C	18.49	3.634428	0.67130	.	.	ENSG00000075275	ENST00000262738;ENST00000395964	T;T	0.72051	-0.62;-0.16	4.92	4.92	0.64577	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	0.000000	0.64402	U	0.000001	D	0.91102	0.7199	H	0.99286	4.5	0.58432	D	0.999994	D	0.89917	1.0	D	0.97110	1.0	D	0.94415	0.7635	10	0.51188	T	0.08	.	17.747	0.88423	0.0:1.0:0.0:0.0	.	560	Q9NYQ6	CELR1_HUMAN	Y	560	ENSP00000262738:D560Y;ENSP00000379293:D560Y	ENSP00000262738:D560Y	D	-	1	0	CELSR1	45310054	1.000000	0.71417	0.995000	0.50966	0.778000	0.44026	7.522000	0.81844	2.281000	0.76405	0.462000	0.41574	GAC		0.607	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1	NM_014246		9	35	1	0	0.00448238	0.004482	0.00478183	9	35				
BRD1	23774	broad.mit.edu	37	22	50197939	50197939	+	Silent	SNP	G	G	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr22:50197939G>A	ENST00000216267.8	-	2	1923	c.1437C>T	c.(1435-1437)taC>taT	p.Y479Y	BRD1_ENST00000404760.1_Silent_p.Y479Y|BRD1_ENST00000342989.5_Silent_p.Y74Y|BRD1_ENST00000404034.1_Silent_p.Y479Y|BRD1_ENST00000542442.1_Silent_p.Y172Y|BRD1_ENST00000457780.2_Silent_p.Y479Y	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN	bromodomain containing 1	479					histone H3 acetylation (GO:0043966)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleus (GO:0005634)	histone binding (GO:0042393)|zinc ion binding (GO:0008270)	p.Y479Y(1)|p.Y74Y(1)		endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		TGAGCAGCCAGTAGCTGTGGG	0.567																																							uc003biv.2		NA																	2	Substitution - coding silent(2)		lung(2)	pancreas(1)	1						c.(1435-1437)TAC>TAT		bromodomain containing protein 1							60.0	64.0	63.0					22																	50197939		2203	4300	6503	SO:0001819	synonymous_variant	23774				histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding	g.chr22:50197939G>A	AF005067	CCDS14080.1	22q13.33	2008-07-01	2002-01-14		ENSG00000100425	ENSG00000100425			1102	protein-coding gene	gene with protein product	"""BR140-like"""	604589	"""bromodomain-containing 1"""			10591208, 10602503	Standard	NM_014577		Approved	BRL, BRPF2	uc003biv.3	O95696	OTTHUMG00000150288	ENST00000216267.8:c.1437C>T	22.37:g.50197939G>A						BRD1_uc011arf.1_Silent_p.Y74Y|BRD1_uc011arg.1_Silent_p.Y533Y|BRD1_uc011arh.1_Silent_p.Y479Y|BRD1_uc003biu.3_Silent_p.Y479Y	p.Y479Y	NM_014577	NP_055392	O95696	BRD1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)	2	1924	-		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)	479					A6ZJA4	Silent	SNP	ENST00000216267.8	37	c.1437C>T	CCDS14080.1																																																																																				0.567	BRD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317402.1	NM_014577		11	32	0	0	0	0.000978	0	11	32				
CNTN6	27255	broad.mit.edu	37	3	1444003	1444003	+	Splice_Site	SNP	T	T	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr3:1444003T>A	ENST00000446702.2	+	22	3446	c.2819T>A	c.(2818-2820)aTt>aAt	p.I940N	CNTN6_ENST00000539053.1_Splice_Site_p.I868N|CNTN6_ENST00000350110.2_Splice_Site_p.I940N			Q9UQ52	CNTN6_HUMAN	contactin 6	940	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|Notch signaling pathway (GO:0007219)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.I940N(1)		breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		TTTATTCAGATTCTGTACCGG	0.348																																							uc003boz.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(3)|lung(2)|breast(2)|pancreas(1)	8						c.(2818-2820)ATT>AAT		contactin 6 precursor							70.0	73.0	72.0					3																	1444003		2203	4298	6501	SO:0001630	splice_region_variant	27255				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane		g.chr3:1444003T>A	AB003592	CCDS2557.1	3p26-p25	2013-02-11			ENSG00000134115	ENSG00000134115		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	2176	protein-coding gene	gene with protein product	"""neural adhesion molecule"""	607220				9486763	Standard	NM_014461		Approved	NB-3	uc003bpa.3	Q9UQ52	OTTHUMG00000119030	ENST00000446702.2:c.2818-1T>A	3.37:g.1444003T>A						CNTN6_uc011asj.1_Missense_Mutation_p.I868N|CNTN6_uc003bpa.2_Missense_Mutation_p.I940N	p.I940N	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)	22	3086	+		all_cancers(2;0.000164)|all_epithelial(2;0.107)	940			Fibronectin type-III 4.		Q2KHM2	Missense_Mutation	SNP	ENST00000446702.2	37	c.2819T>A	CCDS2557.1	.	.	.	.	.	.	.	.	.	.	T	25.3	4.622546	0.87460	.	.	ENSG00000134115	ENST00000446702;ENST00000539053;ENST00000350110	T;T;T	0.60920	0.15;0.15;0.15	5.6	5.6	0.85130	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000008	T	0.64778	0.2629	N	0.24115	0.695	0.54753	D	0.999988	D	0.71674	0.998	D	0.78314	0.991	T	0.69778	-0.5053	10	0.87932	D	0	.	15.7961	0.78412	0.0:0.0:0.0:1.0	.	940	Q9UQ52	CNTN6_HUMAN	N	940;868;940	ENSP00000407822:I940N;ENSP00000442791:I868N;ENSP00000341882:I940N	ENSP00000341882:I940N	I	+	2	0	CNTN6	1419003	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	7.477000	0.81069	2.131000	0.65755	0.533000	0.62120	ATT		0.348	CNTN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239235.2	NM_014461	Missense_Mutation	17	35	0	0	0	0.007413	0	17	35				
NUP210	23225	broad.mit.edu	37	3	13360750	13360750	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr3:13360750C>A	ENST00000254508.5	-	38	5541	c.5459G>T	c.(5458-5460)gGg>gTg	p.G1820V		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	1820					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)		p.G1820V(1)		NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					GACCGCTGTCCCAGCCAACAG	0.562																																							uc003bxv.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(3)|skin(3)|pancreas(1)|liver(1)	11						c.(5458-5460)GGG>GTG		nucleoporin 210 precursor							89.0	78.0	82.0					3																	13360750		2203	4300	6503	SO:0001583	missense	23225				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore		g.chr3:13360750C>A	AB020713	CCDS33704.1	3p25	2008-02-05			ENSG00000132182	ENSG00000132182			30052	protein-coding gene	gene with protein product		607703				2184032, 7504063	Standard	NM_024923		Approved	GP210, POM210, FLJ22389, KIAA0906	uc003bxv.1	Q8TEM1	OTTHUMG00000157268	ENST00000254508.5:c.5459G>T	3.37:g.13360750C>A	ENSP00000254508:p.Gly1820Val						p.G1820V	NM_024923	NP_079199	Q8TEM1	PO210_HUMAN			38	5542	-	all_neural(104;0.187)		1820			Helical; (Potential).		A6NN56|O94980|Q6NXG6|Q8NBJ1|Q9H6C8|Q9UFP3	Missense_Mutation	SNP	ENST00000254508.5	37	c.5459G>T	CCDS33704.1	.	.	.	.	.	.	.	.	.	.	C	14.14	2.445299	0.43429	.	.	ENSG00000132182	ENST00000254508	T	0.05081	3.5	5.11	4.23	0.50019	.	0.132408	0.49916	D	0.000126	T	0.18087	0.0434	M	0.73598	2.24	0.80722	D	1	D	0.67145	0.996	P	0.55011	0.766	T	0.04495	-1.0947	10	0.27082	T	0.32	.	15.7203	0.77705	0.0:0.8631:0.1369:0.0	.	1820	Q8TEM1	PO210_HUMAN	V	1820	ENSP00000254508:G1820V	ENSP00000254508:G1820V	G	-	2	0	NUP210	13335750	1.000000	0.71417	1.000000	0.80357	0.176000	0.22953	3.488000	0.53229	1.147000	0.42369	0.563000	0.77884	GGG		0.562	NUP210-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340085.1	NM_024923		9	6	1	0	0.000274275	0.004482	0.00030271	9	6				
C3orf20	84077	broad.mit.edu	37	3	14799156	14799156	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr3:14799156G>T	ENST00000253697.3	+	13	2671	c.2219G>T	c.(2218-2220)cGg>cTg	p.R740L	C3orf20_ENST00000412910.1_Missense_Mutation_p.R618L|C3orf20_ENST00000435614.1_Missense_Mutation_p.R618L	NM_032137.4	NP_115513.4	Q8ND61	CC020_HUMAN	chromosome 3 open reading frame 20	740						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)		p.R740L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						CACCAGCAGCGGGGCCGTGGC	0.637																																							uc003byy.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(2218-2220)CGG>CTG		hypothetical protein LOC84077							16.0	18.0	17.0					3																	14799156		2198	4296	6494	SO:0001583	missense	84077					cytoplasm|integral to membrane		g.chr3:14799156G>T	AL136781	CCDS33706.1, CCDS54555.1	3p25.1	2011-01-25			ENSG00000131379	ENSG00000131379			25320	protein-coding gene	gene with protein product						11230166	Standard	NM_032137		Approved	DKFZP434N1817	uc003byy.3	Q8ND61	OTTHUMG00000155545	ENST00000253697.3:c.2219G>T	3.37:g.14799156G>T	ENSP00000253697:p.Arg740Leu					C3orf20_uc003byz.2_Missense_Mutation_p.R618L|C3orf20_uc003bza.2_Missense_Mutation_p.R618L|C3orf20_uc003bzb.1_Missense_Mutation_p.R241L|C3orf20_uc011avj.1_Missense_Mutation_p.R67L	p.R740L	NM_032137	NP_115513	Q8ND61	CC020_HUMAN			13	2623	+			740					Q7L0U6|Q8NCP2|Q9H0I7	Missense_Mutation	SNP	ENST00000253697.3	37	c.2219G>T	CCDS33706.1	.	.	.	.	.	.	.	.	.	.	G	9.249	1.040152	0.19669	.	.	ENSG00000131379	ENST00000253697;ENST00000435614;ENST00000412910	T;T;T	0.08807	3.34;3.05;3.05	4.86	-0.421	0.12332	.	0.994393	0.08154	N	0.989565	T	0.07773	0.0195	L	0.40543	1.245	0.23624	N	0.997262	P;P	0.41748	0.761;0.761	B;B	0.38378	0.272;0.272	T	0.35822	-0.9773	10	0.56958	D	0.05	-10.0267	7.9721	0.30134	0.5512:0.0:0.4488:0.0	.	618;740	Q8ND61-2;Q8ND61	.;CC020_HUMAN	L	740;618;618	ENSP00000253697:R740L;ENSP00000402933:R618L;ENSP00000396081:R618L	ENSP00000253697:R740L	R	+	2	0	C3orf20	14774160	0.995000	0.38212	0.998000	0.56505	0.060000	0.15804	0.386000	0.20702	-0.043000	0.13513	0.297000	0.19635	CGG		0.637	C3orf20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340586.1	NM_032137		10	11	1	0	0.000978159	0.000978	0.00106576	10	11				
PDCD6IP	10015	broad.mit.edu	37	3	33906811	33906811	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr3:33906811C>T	ENST00000307296.3	+	17	2698	c.2321C>T	c.(2320-2322)cCa>cTa	p.P774L	PDCD6IP_ENST00000457054.2_Missense_Mutation_p.P779L			Q8WUM4	PDC6I_HUMAN	programmed cell death 6 interacting protein	774	Interaction with EIAV p9.|Pro-rich.|Self-association.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell division (GO:0051301)|protein transport (GO:0015031)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|immunological synapse (GO:0001772)|membrane (GO:0016020)|vesicle (GO:0031982)	calcium-dependent protein binding (GO:0048306)|protein homodimerization activity (GO:0042803)	p.P774L(1)		central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|skin(1)|stomach(1)	23						GCTACTGCTCCATCTCCAGTG	0.597																																							uc003cfx.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(2320-2322)CCA>CTA		programmed cell death 6 interacting protein							45.0	46.0	46.0					3																	33906811		2203	4300	6503	SO:0001583	missense	10015				apoptosis|cell cycle|cell division|interspecies interaction between organisms|protein transport	cytosol|melanosome|microtubule organizing center	calcium-dependent protein binding	g.chr3:33906811C>T	BC020066	CCDS2660.1, CCDS54561.1	3p22.3	2012-08-30	2001-11-29		ENSG00000170248	ENSG00000170248			8766	protein-coding gene	gene with protein product	"""ALG-2 interacting protein X"""	608074	"""programmed cell death 6-interacting protein"""			9880530	Standard	NM_001162429		Approved	Alix, AIP1, Hp95	uc003cfy.4	Q8WUM4	OTTHUMG00000130751	ENST00000307296.3:c.2321C>T	3.37:g.33906811C>T	ENSP00000307387:p.Pro774Leu					PDCD6IP_uc003cfy.2_Missense_Mutation_p.P779L|PDCD6IP_uc011axw.1_Missense_Mutation_p.P555L	p.P774L	NM_013374	NP_037506	Q8WUM4	PDC6I_HUMAN			17	2476	+			774			Pro-rich.|Interaction with EIAV p9.|Self-association.		C5MQH7|E9PFU1|Q6NUS1|Q9BX86|Q9NUN0|Q9P2H2|Q9UKL5	Missense_Mutation	SNP	ENST00000307296.3	37	c.2321C>T	CCDS2660.1	.	.	.	.	.	.	.	.	.	.	C	13.85	2.361549	0.41801	.	.	ENSG00000170248	ENST00000307296;ENST00000457054	T;T	0.46819	0.86;0.86	5.38	3.55	0.40652	.	1.566950	0.03912	N	0.282129	T	0.47340	0.1440	M	0.61703	1.905	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.28586	-1.0039	10	0.37606	T	0.19	0.0352	6.9621	0.24603	0.1283:0.6673:0.0:0.2044	.	555;779;774	B7Z5C1;E9PFU1;Q8WUM4	.;.;PDC6I_HUMAN	L	774;779	ENSP00000307387:P774L;ENSP00000411825:P779L	ENSP00000307387:P774L	P	+	2	0	PDCD6IP	33881815	0.086000	0.21541	0.022000	0.16811	0.031000	0.12232	2.522000	0.45572	1.400000	0.46741	0.655000	0.94253	CCA		0.597	PDCD6IP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253251.2			12	29	0	0	0	0.00245	0	12	29				
MYRIP	25924	broad.mit.edu	37	3	39942313	39942313	+	Silent	SNP	G	G	C			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr3:39942313G>C	ENST00000302541.6	+	2	348	c.6G>C	c.(4-6)ggG>ggC	p.G2G	MYRIP_ENST00000396217.3_5'UTR|MYRIP_ENST00000444716.1_Silent_p.G2G|MYRIP_ENST00000425621.1_Silent_p.G2G	NM_001284423.1|NM_001284426.1|NM_015460.2	NP_001271352.1|NP_001271355.1|NP_056275.2	Q8NFW9	MYRIP_HUMAN	myosin VIIA and Rab interacting protein	2					intracellular protein transport (GO:0006886)|positive regulation of insulin secretion (GO:0032024)	actin cytoskeleton (GO:0015629)|dense core granule (GO:0031045)|exocyst (GO:0000145)|melanosome (GO:0042470)|perinuclear region of cytoplasm (GO:0048471)|photoreceptor outer segment (GO:0001750)|synapse (GO:0045202)	zinc ion binding (GO:0008270)	p.G2G(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		TAACCATGGGGAGGAAGCTGG	0.398																																							uc003cka.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5						c.(4-6)GGG>GGC		myosin VIIA and Rab interacting protein							149.0	141.0	144.0					3																	39942313		2203	4300	6503	SO:0001819	synonymous_variant	25924				intracellular protein transport		actin binding|zinc ion binding	g.chr3:39942313G>C	AF396687	CCDS2689.1, CCDS68390.1, CCDS68391.1, CCDS68392.1	3p21.33	2010-08-20			ENSG00000170011	ENSG00000170011		"""A-kinase anchor proteins"""	19156	protein-coding gene	gene with protein product	"""synaptotagmin-like protein homologue lacking C2 domains-c"", ""rab effector MYRIP"", ""Slp homologue lacking C2 domains"""	611790				11964381, 12221080	Standard	NM_001284425		Approved	DKFZp586F1018, exophilin-8, MyRIP, SLAC2-C, SLAC2C	uc003cka.3	Q8NFW9	OTTHUMG00000131392	ENST00000302541.6:c.6G>C	3.37:g.39942313G>C						MYRIP_uc010hhu.2_RNA|MYRIP_uc010hhv.2_Silent_p.G2G|MYRIP_uc010hhw.2_5'UTR|MYRIP_uc010hhx.1_Silent_p.G2G	p.G2G	NM_015460	NP_056275	Q8NFW9	MYRIP_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)	2	141	+			2					B3KWM3|B3KWW4|B7Z2H1|B7Z9V3|G3XAI8|Q32M41|Q32M42|Q569F7|Q8IUF5|Q9Y3V4	Silent	SNP	ENST00000302541.6	37	c.6G>C	CCDS2689.1																																																																																				0.398	MYRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254181.2	NM_015460		59	45	0	0	0	0.00361	0	59	45				
ZNF619	285267	broad.mit.edu	37	3	40529172	40529172	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr3:40529172C>A	ENST00000314686.5	+	6	1528	c.1123C>A	c.(1123-1125)Cag>Aag	p.Q375K	ZNF619_ENST00000521353.1_Missense_Mutation_p.Q431K|ZNF619_ENST00000429348.2_Missense_Mutation_p.Q391K|ZNF619_ENST00000456778.1_Missense_Mutation_p.Q347K|ZNF619_ENST00000520737.1_3'UTR|ZNF619_ENST00000432264.2_Missense_Mutation_p.Q391K|ZNF619_ENST00000522736.1_Missense_Mutation_p.Q382K|ZNF619_ENST00000447116.2_Missense_Mutation_p.Q431K			Q8N2I2	ZN619_HUMAN	zinc finger protein 619	375					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.Q375K(1)		breast(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		TCTTCAGCACCAGAGGTTCCA	0.458																																							uc011azb.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1291-1293)CAG>AAG		zinc finger protein 619 isoform 1							63.0	67.0	66.0					3																	40529172		2203	4300	6503	SO:0001583	missense	285267				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr3:40529172C>A	AK075245	CCDS46801.1, CCDS46802.1, CCDS46803.1	3p21.33	2013-01-08			ENSG00000177873	ENSG00000177873		"""Zinc fingers, C2H2-type"", ""-"""	26910	protein-coding gene	gene with protein product							Standard	NM_001145083		Approved	FLJ90764	uc011azb.2	Q8N2I2	OTTHUMG00000131391	ENST00000314686.5:c.1123C>A	3.37:g.40529172C>A	ENSP00000322529:p.Gln375Lys					ZNF619_uc010hhz.2_Missense_Mutation_p.Q382K|ZNF619_uc003ckj.2_Missense_Mutation_p.Q375K|ZNF619_uc011azc.1_Missense_Mutation_p.Q391K|ZNF619_uc011azd.1_Missense_Mutation_p.Q347K|ZNF619_uc011aza.1_Missense_Mutation_p.Q333K	p.Q431K	NM_001145082	NP_001138554	E9PCD9	E9PCD9_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)	6	1569	+			431					B4E271|C9JRN5|D4PHA2|E9PCD9	Missense_Mutation	SNP	ENST00000314686.5	37	c.1291C>A		.	.	.	.	.	.	.	.	.	.	C	6.784	0.513581	0.12944	.	.	ENSG00000177873	ENST00000314686;ENST00000447116;ENST00000429348;ENST00000456778;ENST00000522736;ENST00000521353;ENST00000432264	T;T;T;T;T;T;T	0.15952	2.38;2.38;2.38;2.38;2.38;2.38;2.38	2.44	1.54	0.23209	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.13329	0.0323	L	0.31157	0.91	0.19775	N	0.99995	B;B;B;B;B;B	0.16396	0.002;0.003;0.003;0.017;0.003;0.002	B;B;B;B;B;B	0.14023	0.001;0.002;0.002;0.01;0.002;0.001	T	0.23762	-1.0179	9	0.54805	T	0.06	.	10.7913	0.46434	0.1922:0.8078:0.0:0.0	.	347;391;431;333;382;375	B4E271;C9JRN5;E9PCD9;B7Z9B3;Q17RW3;Q8N2I2	.;.;.;.;.;ZN619_HUMAN	K	375;431;391;347;382;431;391	ENSP00000322529:Q375K;ENSP00000411132:Q431K;ENSP00000398024:Q391K;ENSP00000397232:Q347K;ENSP00000428004:Q382K;ENSP00000430705:Q431K;ENSP00000388710:Q391K	ENSP00000322529:Q375K	Q	+	1	0	ZNF619	40504176	0.000000	0.05858	0.808000	0.32385	0.411000	0.31082	-0.226000	0.09139	-0.018000	0.14079	-1.357000	0.01221	CAG		0.458	ZNF619-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000254180.2	NM_173656		38	29	1	0	1.30015e-28	0.004878	2.39415e-28	38	29				
ZDHHC3	51304	broad.mit.edu	37	3	44975430	44975430	+	Missense_Mutation	SNP	C	C	G			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr3:44975430C>G	ENST00000424952.2	-	4	746	c.478G>C	c.(478-480)Gtc>Ctc	p.V160L	ZDHHC3_ENST00000296127.3_Missense_Mutation_p.V160L|ZDHHC3_ENST00000342790.4_Missense_Mutation_p.V194L	NM_001135179.1	NP_001128651.1	Q9NYG2	ZDHC3_HUMAN	zinc finger, DHHC-type containing 3	160					protein palmitoylation (GO:0018345)|protein targeting (GO:0006605)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)	p.V160L(1)|p.V26L(1)		endometrium(1)|large_intestine(3)|lung(4)	8				BRCA - Breast invasive adenocarcinoma(193;0.00943)|KIRC - Kidney renal clear cell carcinoma(197;0.053)|Kidney(197;0.0665)		CAGTTGTTGACCCAGGGACAG	0.532																																							uc003cod.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(478-480)GTC>CTC		zinc finger, DHHC-type containing 3 isoform 2							308.0	266.0	280.0					3																	44975430		2203	4300	6503	SO:0001583	missense	51304					Golgi membrane|integral to membrane	zinc ion binding	g.chr3:44975430C>G	AF247703	CCDS2724.1, CCDS46811.1	3p21.31	2010-02-09			ENSG00000163812	ENSG00000163812		"""Zinc fingers, DHHC-type"""	18470	protein-coding gene	gene with protein product	"""golgi-specific DHHC Zinc Finger Protein"""					19955568	Standard	NM_016598		Approved	ZNF373, GODZ	uc003cod.3	Q9NYG2	OTTHUMG00000133093	ENST00000424952.2:c.478G>C	3.37:g.44975430C>G	ENSP00000395502:p.Val160Leu					ZDHHC3_uc003cog.2_Missense_Mutation_p.V160L|ZDHHC3_uc011bad.1_Missense_Mutation_p.V160L	p.V160L	NM_016598	NP_057682	Q9NYG2	ZDHC3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00943)|KIRC - Kidney renal clear cell carcinoma(197;0.053)|Kidney(197;0.0665)	4	752	-			160			Cytoplasmic (Potential).|DHHC-type.		Q53A17|Q96BL0	Missense_Mutation	SNP	ENST00000424952.2	37	c.478G>C	CCDS46811.1	.	.	.	.	.	.	.	.	.	.	C	31	5.081825	0.94050	.	.	ENSG00000163812	ENST00000339420;ENST00000296127;ENST00000424952;ENST00000342790;ENST00000433512;ENST00000455235	T;T;T;T;T;T	0.35605	1.84;1.3;1.3;1.3;1.84;1.84	4.97	4.97	0.65823	Zinc finger, DHHC-type, palmitoyltransferase (2);	0.000000	0.85682	D	0.000000	T	0.50222	0.1603	L	0.58583	1.82	0.80722	D	1	P;P;P	0.41848	0.763;0.474;0.529	P;B;P	0.51016	0.656;0.238;0.521	T	0.45396	-0.9264	10	0.42905	T	0.14	.	18.5856	0.91188	0.0:1.0:0.0:0.0	.	160;160;160	E9PGS3;Q9NYG2-2;Q9NYG2	.;.;ZDHC3_HUMAN	L	26;160;160;194;8;8	ENSP00000404108:V26L;ENSP00000296127:V160L;ENSP00000395502:V160L;ENSP00000345268:V194L;ENSP00000416132:V8L;ENSP00000408294:V8L	ENSP00000296127:V160L	V	-	1	0	ZDHHC3	44950434	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.667000	0.83888	2.466000	0.83321	0.655000	0.94253	GTC		0.532	ZDHHC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347004.1	NM_016598		8	323	0	0	0	0.00308	0	8	323				
ALS2CL	259173	broad.mit.edu	37	3	46723032	46723032	+	Missense_Mutation	SNP	C	C	G			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr3:46723032C>G	ENST00000318962.4	-	12	1315	c.1232G>C	c.(1231-1233)tGt>tCt	p.C411S	ALS2CL_ENST00000415953.1_Missense_Mutation_p.C411S	NM_147129.3	NP_667340.2	Q60I27	AL2CL_HUMAN	ALS2 C-terminal like	411					endosome organization (GO:0007032)|protein localization (GO:0008104)	cytoplasmic membrane-bounded vesicle (GO:0016023)	GTPase activator activity (GO:0005096)|identical protein binding (GO:0042802)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.C411S(1)		NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		TCGCCAGTGACACTTGTAACA	0.612																																							uc003cqa.1		NA																	1	Substitution - Missense(1)		lung(1)	breast(2)|central_nervous_system(2)|skin(1)	5						c.(1231-1233)TGT>TCT		ALS2 C-terminal like isoform 1							139.0	123.0	129.0					3																	46723032		2203	4300	6503	SO:0001583	missense	259173				endosome organization|regulation of Rho protein signal transduction		GTPase activator activity|identical protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr3:46723032C>G	AK074118	CCDS2743.1, CCDS43080.1	3p21.31	2008-01-30			ENSG00000178038	ENSG00000178038			20605	protein-coding gene	gene with protein product		612402				15388334, 8889548, 17239822	Standard	NM_147129		Approved	FLJ36525, RN49018, DKFZp686I0110	uc003cqb.2	Q60I27	OTTHUMG00000128673	ENST00000318962.4:c.1232G>C	3.37:g.46723032C>G	ENSP00000313670:p.Cys411Ser					ALS2CL_uc003cpz.1_5'UTR|ALS2CL_uc003cqb.1_Missense_Mutation_p.C411S|ALS2CL_uc003cqc.1_RNA	p.C411S	NM_147129	NP_667340	Q60I27	AL2CL_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)	12	1422	-			411			MORN 3.		Q32MA1|Q6AI56|Q6ZNC5|Q6ZNC7|Q6ZTL4|Q86YD2|Q8N9U1|Q8NAL7	Missense_Mutation	SNP	ENST00000318962.4	37	c.1232G>C	CCDS2743.1	.	.	.	.	.	.	.	.	.	.	C	12.31	1.898298	0.33535	.	.	ENSG00000178038	ENST00000318962;ENST00000415953	T;T	0.41065	1.01;1.01	3.94	3.94	0.45596	.	0.395973	0.24623	N	0.036941	T	0.40423	0.1116	L	0.44542	1.39	0.80722	D	1	P	0.36683	0.565	B	0.40825	0.341	T	0.45011	-0.9290	10	0.62326	D	0.03	.	13.503	0.61469	0.0:1.0:0.0:0.0	.	411	Q60I27	AL2CL_HUMAN	S	411	ENSP00000313670:C411S;ENSP00000413223:C411S	ENSP00000313670:C411S	C	-	2	0	ALS2CL	46698036	1.000000	0.71417	1.000000	0.80357	0.760000	0.43138	5.904000	0.69886	2.031000	0.59945	0.455000	0.32223	TGT		0.612	ALS2CL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250567.3	NM_147129		33	18	0	0	0	0.003755	0	33	18				
SETD2	29072	broad.mit.edu	37	3	47158147	47158147	+	Nonsense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr3:47158147C>A	ENST00000409792.3	-	4	4594	c.4552G>T	c.(4552-4554)Gaa>Taa	p.E1518*		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1518	AWS. {ECO:0000255|PROSITE- ProRule:PRU00562}.				angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)	p.E1518*(1)|p.E1015*(1)		breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		AGACAATCTTCCCCACATGCT	0.338			"""N, F, S, Mis"""		clear cell renal carcinoma																																		uc003cqs.2		NA		Rec	yes		3	3p21.31	29072	N|F|S|Mis	SET domain containing 2			E			clear cell renal carcinoma		2	Substitution - Nonsense(2)		lung(2)	kidney(24)|ovary(5)|skin(1)|central_nervous_system(1)|breast(1)	32						c.(4552-4554)GAA>TAA		SET domain containing 2							127.0	127.0	127.0					3																	47158147		2203	4300	6503	SO:0001587	stop_gained	29072				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding	g.chr3:47158147C>A	AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"""Chromatin-modifying enzymes / K-methyltransferases"""	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.4552G>T	3.37:g.47158147C>A	ENSP00000386759:p.Glu1518*					SETD2_uc003cqv.2_Nonsense_Mutation_p.E1507*	p.E1518*	NM_014159	NP_054878	Q9BYW2	SETD2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)	4	4605	-		Acute lymphoblastic leukemia(5;0.0169)	1518			AWS.		O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Nonsense_Mutation	SNP	ENST00000409792.3	37	c.4552G>T	CCDS2749.2	.	.	.	.	.	.	.	.	.	.	C	45	11.807680	0.99605	.	.	ENSG00000181555	ENST00000451092;ENST00000543224;ENST00000409792	.	.	.	5.93	5.93	0.95920	.	0.000000	0.64402	D	0.000019	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	20.3495	0.98807	0.0:1.0:0.0:0.0	.	.	.	.	X	1518	.	ENSP00000386759:E1518X	E	-	1	0	SETD2	47133151	1.000000	0.71417	0.989000	0.46669	0.915000	0.54546	7.794000	0.85869	2.814000	0.96858	0.591000	0.81541	GAA		0.338	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159		48	65	1	0	1.56989e-16	0.00361	2.60883e-16	48	65				
DHX30	22907	broad.mit.edu	37	3	47870539	47870539	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr3:47870539C>T	ENST00000445061.1	+	6	688	c.281C>T	c.(280-282)cCc>cTc	p.P94L	DHX30_ENST00000446256.2_Missense_Mutation_p.P55L|DHX30_ENST00000348968.4_Missense_Mutation_p.P66L|DHX30_ENST00000457607.1_Missense_Mutation_p.P122L	NM_138615.2	NP_619520.1	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	94	DRBM.					cytoplasm (GO:0005737)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)	p.P94L(1)		endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		ATAAAATGGCCCAAGAGCGTG	0.498																																							uc003cru.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)	4						c.(280-282)CCC>CTC		DEAH (Asp-Glu-Ala-His) box polypeptide 30							62.0	56.0	58.0					3																	47870539		2203	4300	6503	SO:0001583	missense	22907					mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding	g.chr3:47870539C>T	AB020697	CCDS2759.1	3p24.3-p22.1	2013-07-16	2013-07-16	2003-06-13	ENSG00000132153	ENSG00000132153		"""DEAH-boxes"""	16716	protein-coding gene	gene with protein product			"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 30"", ""DEAH (Asp-Glu-Ala-His) box polypeptide 30"""	DDX30		10048485, 18022663	Standard	NM_138615		Approved	KIAA0890, FLJ11214	uc003cru.3	Q7L2E3	OTTHUMG00000133522	ENST00000445061.1:c.281C>T	3.37:g.47870539C>T	ENSP00000405620:p.Pro94Leu					DHX30_uc003crs.2_Missense_Mutation_p.P55L|DHX30_uc003crt.2_Missense_Mutation_p.P55L|DHX30_uc010hjr.1_Missense_Mutation_p.P122L	p.P94L	NM_138615	NP_619520	Q7L2E3	DHX30_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)	6	707	+			94			DRBM.		A8K5F1|O94965|Q7Z753|Q96CH4|Q9NUQ0	Missense_Mutation	SNP	ENST00000445061.1	37	c.281C>T	CCDS2759.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.702077	0.88924	.	.	ENSG00000132153	ENST00000446256;ENST00000445061;ENST00000348968;ENST00000457607	T;T;T;T	0.12361	2.83;2.77;2.83;2.69	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.35828	0.0945	L	0.61218	1.895	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	T	0.05370	-1.0889	10	0.87932	D	0	.	16.0035	0.80327	0.0:1.0:0.0:0.0	.	94;55;122	Q7L2E3;Q7L2E3-3;Q7L2E3-2	DHX30_HUMAN;.;.	L	55;94;66;122	ENSP00000392601:P55L;ENSP00000405620:P94L;ENSP00000343442:P66L;ENSP00000394682:P122L	ENSP00000343442:P66L	P	+	2	0	DHX30	47845543	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.991000	0.63883	2.466000	0.83321	0.557000	0.71058	CCC		0.498	DHX30-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257495.2	NM_138615		5	7	0	0	0	0.000602	0	5	7				
DNAH1	25981	broad.mit.edu	37	3	52432999	52432999	+	Missense_Mutation	SNP	T	T	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr3:52432999T>A	ENST00000420323.2	+	76	12484	c.12223T>A	c.(12223-12225)Tgg>Agg	p.W4075R		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	4140					cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.W4075R(1)|p.W4139R(1)		cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GCCTGAGCTCTGGAGTGCCAA	0.562																																							uc011bef.1		NA																	2	Substitution - Missense(2)		lung(2)	large_intestine(3)	3						c.(12223-12225)TGG>AGG		dynein, axonemal, heavy chain 1							76.0	84.0	81.0					3																	52432999		2088	4205	6293	SO:0001583	missense	25981				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr3:52432999T>A	U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"""Axonemal dyneins"""	2940	protein-coding gene	gene with protein product		603332	"""dynein, axonemal, heavy polypeptide 1"""			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.12223T>A	3.37:g.52432999T>A	ENSP00000401514:p.Trp4075Arg					DNAH1_uc003ddv.2_Missense_Mutation_p.W933R	p.W4075R	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	76	12484	+			4140					B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	ENST00000420323.2	37	c.12223T>A	CCDS46842.1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.353601	0.82243	.	.	ENSG00000114841	ENST00000420323;ENST00000273600	T	0.46819	0.86	4.34	4.34	0.51931	.	0.000000	0.64402	D	0.000005	T	0.80003	0.4544	H	0.98426	4.23	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.87581	0.2484	10	0.87932	D	0	.	13.6383	0.62235	0.0:0.0:0.0:1.0	.	4075;4140	C9JXH6;Q9P2D7-2	.;.	R	4075;828	ENSP00000401514:W4075R	ENSP00000273600:W828R	W	+	1	0	DNAH1	52408039	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.605000	0.67634	1.955000	0.56771	0.533000	0.62120	TGG		0.562	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512		19	33	0	0	0	0.006122	0	19	33				
CADPS	8618	broad.mit.edu	37	3	62467524	62467524	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr3:62467524G>T	ENST00000383710.4	-	22	3396	c.3047C>A	c.(3046-3048)cCc>cAc	p.P1016H	CADPS_ENST00000283269.9_Intron|CADPS_ENST00000357948.3_Intron	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	1016	Interaction with DRD2.|MHD1. {ECO:0000255|PROSITE- ProRule:PRU00587}.				catecholamine secretion (GO:0050432)|exocytosis (GO:0006887)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)|vesicle organization (GO:0016050)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)|synapse (GO:0045202)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)	p.P1016H(1)		breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		GTTCACATTGGGTAGGTTACT	0.433																																							uc003dll.2		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|ovary(1)	3						c.(3046-3048)CCC>CAC		Ca2+-dependent secretion activator isoform 1							223.0	210.0	214.0					3																	62467524		1900	4135	6035	SO:0001583	missense	8618				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding	g.chr3:62467524G>T	U36448	CCDS2898.1, CCDS2899.1, CCDS46858.1	3p21.1	2013-01-10	2008-08-28		ENSG00000163618	ENSG00000163618		"""Pleckstrin homology (PH) domain containing"""	1426	protein-coding gene	gene with protein product		604667				1516133	Standard	NM_183393		Approved	CAPS, KIAA1121, CAPS1	uc003dll.2	Q9ULU8	OTTHUMG00000158651	ENST00000383710.4:c.3047C>A	3.37:g.62467524G>T	ENSP00000373215:p.Pro1016His					CADPS_uc003dlj.1_5'UTR|CADPS_uc003dlk.1_Intron|CADPS_uc003dlm.2_Intron|CADPS_uc003dln.2_Intron	p.P1016H	NM_003716	NP_003707	Q9ULU8	CAPS1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)	22	3407	-		Lung SC(41;0.0452)	1016			MHD1.|Interaction with DRD2.		A6NF60|Q13339|Q6GQQ6|Q8N2Z5|Q8N3M7|Q8NFR0|Q96BC2	Missense_Mutation	SNP	ENST00000383710.4	37	c.3047C>A	CCDS46858.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.39|13.39	2.223391|2.223391	0.39300|0.39300	.|.	.|.	ENSG00000163618|ENSG00000163618	ENST00000383709;ENST00000383710|ENST00000473635	T|.	0.32753|.	1.44|.	5.28|5.28	5.28|5.28	0.74379|0.74379	Munc13 homology 1 (1);|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.74442|0.74442	0.3717|0.3717	L|L	0.60455|0.60455	1.87|1.87	0.80722|0.80722	D|D	1|1	B|.	0.10296|.	0.003|.	B|.	0.10450|.	0.005|.	T|T	0.76217|0.76217	-0.3040|-0.3040	10|7	0.66056|0.72032	D|D	0.02|0.01	.|.	19.2786|19.2786	0.94042|0.94042	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1016|.	Q9ULU8|.	CAPS1_HUMAN|.	H|T	1016|3	ENSP00000373215:P1016H|.	ENSP00000373214:P1016H|ENSP00000418889:P3T	P|P	-|-	2|1	0|0	CADPS|CADPS	62442564|62442564	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.405000|7.405000	0.80007|0.80007	2.641000|2.641000	0.89580|0.89580	0.563000|0.563000	0.77884|0.77884	CCC|CCA		0.433	CADPS-013	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351951.5	NM_003716, NM_183393, NM_183394		55	54	1	0	2.69953e-25	0.00361	4.9004e-25	55	54				
CADPS	8618	broad.mit.edu	37	3	62535709	62535709	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr3:62535709C>A	ENST00000383710.4	-	11	2184	c.1835G>T	c.(1834-1836)cGc>cTc	p.R612L	CADPS_ENST00000283269.9_Missense_Mutation_p.R612L|CADPS_ENST00000357948.3_Missense_Mutation_p.R612L	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	612	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				catecholamine secretion (GO:0050432)|exocytosis (GO:0006887)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)|vesicle organization (GO:0016050)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)|synapse (GO:0045202)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)	p.R612L(2)		breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		CCACAGGATGCGGTCTTGTTC	0.557																																							uc003dll.2		NA																	2	Substitution - Missense(2)		lung(2)	central_nervous_system(2)|ovary(1)	3						c.(1834-1836)CGC>CTC		Ca2+-dependent secretion activator isoform 1							164.0	146.0	152.0					3																	62535709		2203	4300	6503	SO:0001583	missense	8618				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding	g.chr3:62535709C>A	U36448	CCDS2898.1, CCDS2899.1, CCDS46858.1	3p21.1	2013-01-10	2008-08-28		ENSG00000163618	ENSG00000163618		"""Pleckstrin homology (PH) domain containing"""	1426	protein-coding gene	gene with protein product		604667				1516133	Standard	NM_183393		Approved	CAPS, KIAA1121, CAPS1	uc003dll.2	Q9ULU8	OTTHUMG00000158651	ENST00000383710.4:c.1835G>T	3.37:g.62535709C>A	ENSP00000373215:p.Arg612Leu					CADPS_uc003dlk.1_Missense_Mutation_p.R116L|CADPS_uc003dlm.2_Missense_Mutation_p.R612L|CADPS_uc003dln.2_Missense_Mutation_p.R612L	p.R612L	NM_003716	NP_003707	Q9ULU8	CAPS1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)	11	2195	-		Lung SC(41;0.0452)	612			PH.		A6NF60|Q13339|Q6GQQ6|Q8N2Z5|Q8N3M7|Q8NFR0|Q96BC2	Missense_Mutation	SNP	ENST00000383710.4	37	c.1835G>T	CCDS46858.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.2|28.2	4.897021|4.897021	0.91962|0.91962	.|.	.|.	ENSG00000163618|ENSG00000163618	ENST00000478434|ENST00000383709;ENST00000383710;ENST00000357948;ENST00000283269;ENST00000542833	.|T;T;T;T	.|0.75704	.|0.65;0.62;0.62;-0.96	4.71|4.71	4.71|4.71	0.59529|0.59529	.|Pleckstrin homology-type (1);Pleckstrin homology domain (2);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.85124|0.85124	0.5625|0.5625	M|M	0.66939|0.66939	2.045|2.045	0.80722|0.80722	D|D	1|1	.|D;P;D;D	.|0.69078	.|0.97;0.764;0.997;0.97	.|P;B;D;D	.|0.80764	.|0.798;0.381;0.994;0.943	D|D	0.86596|0.86596	0.1863|0.1863	5|10	.|0.72032	.|D	.|0.01	.|.	18.2011|18.2011	0.89838|0.89838	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|612;612;612;612	.|Q9ULU8-2;Q9ULU8-3;Q9ULU8;Q9ULU8-4	.|.;.;CAPS1_HUMAN;.	S|L	43|612;612;612;612;107	.|ENSP00000373215:R612L;ENSP00000350632:R612L;ENSP00000283269:R612L;ENSP00000439528:R107L	.|ENSP00000283269:R612L	A|R	-|-	1|2	0|0	CADPS|CADPS	62510749|62510749	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	7.609000|7.609000	0.82925|0.82925	2.612000|2.612000	0.88384|0.88384	0.585000|0.585000	0.79938|0.79938	GCA|CGC		0.557	CADPS-013	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351951.5	NM_003716, NM_183393, NM_183394		74	63	1	0	3.52879e-18	0.00361	6.03081e-18	74	63				
CNTN3	5067	broad.mit.edu	37	3	74334493	74334493	+	Silent	SNP	A	A	G			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr3:74334493A>G	ENST00000263665.6	-	19	2694	c.2667T>C	c.(2665-2667)ccT>ccC	p.P889P		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	889	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.P889P(1)		NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		TGGCGCTAAAAGGCCCAGCGC	0.473																																							uc003dpm.1		NA																	1	Substitution - coding silent(1)		lung(1)	breast(3)|ovary(1)|skin(1)	5						c.(2665-2667)CCT>CCC		contactin 3 precursor							133.0	134.0	134.0					3																	74334493		2203	4300	6503	SO:0001819	synonymous_variant	5067				cell adhesion	anchored to membrane|plasma membrane	protein binding	g.chr3:74334493A>G	AB040929	CCDS33790.1	3p12.3	2013-02-11			ENSG00000113805	ENSG00000113805		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2173	protein-coding gene	gene with protein product		601325		PANG		8661054, 8586965	Standard	XM_005264757		Approved	BIG-1	uc003dpm.1	Q9P232	OTTHUMG00000158813	ENST00000263665.6:c.2667T>C	3.37:g.74334493A>G							p.P889P	NM_020872	NP_065923	Q9P232	CNTN3_HUMAN		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)	19	2747	-		Lung NSC(201;0.138)|Lung SC(41;0.21)	889			Fibronectin type-III 3.		B9EK50|Q9H039	Silent	SNP	ENST00000263665.6	37	c.2667T>C	CCDS33790.1																																																																																				0.473	CNTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352306.1	NM_020872		38	121	0	0	0	0.007835	0	38	121				
CNTN3	5067	broad.mit.edu	37	3	74411127	74411127	+	Silent	SNP	C	C	G			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr3:74411127C>G	ENST00000263665.6	-	10	1305	c.1278G>C	c.(1276-1278)ctG>ctC	p.L426L		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	426	Ig-like C2-type 5.				cell adhesion (GO:0007155)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.L426L(1)		NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		CCAAGCTGACCAGGCTGCCCA	0.502																																							uc003dpm.1		NA																	1	Substitution - coding silent(1)		lung(1)	breast(3)|ovary(1)|skin(1)	5						c.(1276-1278)CTG>CTC		contactin 3 precursor							80.0	84.0	82.0					3																	74411127		2203	4300	6503	SO:0001819	synonymous_variant	5067				cell adhesion	anchored to membrane|plasma membrane	protein binding	g.chr3:74411127C>G	AB040929	CCDS33790.1	3p12.3	2013-02-11			ENSG00000113805	ENSG00000113805		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2173	protein-coding gene	gene with protein product		601325		PANG		8661054, 8586965	Standard	XM_005264757		Approved	BIG-1	uc003dpm.1	Q9P232	OTTHUMG00000158813	ENST00000263665.6:c.1278G>C	3.37:g.74411127C>G							p.L426L	NM_020872	NP_065923	Q9P232	CNTN3_HUMAN		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)	10	1358	-		Lung NSC(201;0.138)|Lung SC(41;0.21)	426			Ig-like C2-type 5.		B9EK50|Q9H039	Silent	SNP	ENST00000263665.6	37	c.1278G>C	CCDS33790.1																																																																																				0.502	CNTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352306.1	NM_020872		36	38	0	0	0	0.004878	0	36	38				
CNTN3	5067	broad.mit.edu	37	3	74413689	74413689	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr3:74413689G>T	ENST00000263665.6	-	9	1169	c.1142C>A	c.(1141-1143)tCt>tAt	p.S381Y		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	381	Ig-like C2-type 4.				cell adhesion (GO:0007155)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.S381Y(1)		NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		GAACATGCCAGAATCAGTCAC	0.368																																							uc003dpm.1		NA																	1	Substitution - Missense(1)		lung(1)	breast(3)|ovary(1)|skin(1)	5						c.(1141-1143)TCT>TAT		contactin 3 precursor							197.0	178.0	184.0					3																	74413689		2203	4300	6503	SO:0001583	missense	5067				cell adhesion	anchored to membrane|plasma membrane	protein binding	g.chr3:74413689G>T	AB040929	CCDS33790.1	3p12.3	2013-02-11			ENSG00000113805	ENSG00000113805		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2173	protein-coding gene	gene with protein product		601325		PANG		8661054, 8586965	Standard	XM_005264757		Approved	BIG-1	uc003dpm.1	Q9P232	OTTHUMG00000158813	ENST00000263665.6:c.1142C>A	3.37:g.74413689G>T	ENSP00000263665:p.Ser381Tyr						p.S381Y	NM_020872	NP_065923	Q9P232	CNTN3_HUMAN		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)	9	1222	-		Lung NSC(201;0.138)|Lung SC(41;0.21)	381			Ig-like C2-type 4.		B9EK50|Q9H039	Missense_Mutation	SNP	ENST00000263665.6	37	c.1142C>A	CCDS33790.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.973931	0.74246	.	.	ENSG00000113805	ENST00000263665	T	0.69685	-0.42	5.36	5.36	0.76844	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.062207	0.64402	D	0.000003	T	0.82061	0.4955	M	0.82193	2.58	0.42876	D	0.994159	P	0.48911	0.917	P	0.58780	0.845	D	0.84979	0.0887	10	0.87932	D	0	.	19.0989	0.93266	0.0:0.0:1.0:0.0	.	381	Q9P232	CNTN3_HUMAN	Y	381	ENSP00000263665:S381Y	ENSP00000263665:S381Y	S	-	2	0	CNTN3	74496379	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.066000	0.64351	2.492000	0.84095	0.467000	0.42956	TCT		0.368	CNTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352306.1	NM_020872		17	54	1	0	8.28177e-16	0.007413	1.35641e-15	17	54				
OR5K4	403278	broad.mit.edu	37	3	98073296	98073296	+	Missense_Mutation	SNP	A	A	G			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr3:98073296A>G	ENST00000354924.2	+	1	599	c.599A>G	c.(598-600)tAt>tGt	p.Y200C	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005517.1	NP_001005517.1	A6NMS3	OR5K4_HUMAN	olfactory receptor, family 5, subfamily K, member 4	200						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Y200C(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	21						CTAATGATATATATCTTTTCA	0.333																																							uc011bgv.1		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(598-600)TAT>TGT		olfactory receptor, family 5, subfamily K,							73.0	78.0	76.0					3																	98073296		2203	4300	6503	SO:0001583	missense	403278				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:98073296A>G		CCDS33802.1	3q11.2	2013-09-23			ENSG00000196098	ENSG00000196098		"""GPCR / Class A : Olfactory receptors"""	31291	protein-coding gene	gene with protein product							Standard	NM_001005517		Approved		uc011bgv.2	A6NMS3	OTTHUMG00000160081	ENST00000354924.2:c.599A>G	3.37:g.98073296A>G	ENSP00000347003:p.Tyr200Cys						p.Y200C	NM_001005517	NP_001005517	A6NMS3	OR5K4_HUMAN			1	599	+			200			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000354924.2	37	c.599A>G	CCDS33802.1	.	.	.	.	.	.	.	.	.	.	A	8.246	0.807972	0.16467	.	.	ENSG00000196098	ENST00000354924	T	0.00158	8.65	4.97	-0.948	0.10379	GPCR, rhodopsin-like superfamily (1);	0.309854	0.17809	U	0.161261	T	0.00271	0.0008	L	0.49126	1.545	0.09310	N	0.999991	D	0.67145	0.996	D	0.64506	0.926	T	0.49254	-0.8959	10	0.87932	D	0	-4.5503	9.937	0.41556	0.4453:0.0:0.0:0.5547	.	200	A6NMS3	OR5K4_HUMAN	C	200	ENSP00000347003:Y200C	ENSP00000347003:Y200C	Y	+	2	0	OR5K4	99555986	0.000000	0.05858	0.385000	0.26158	0.087000	0.18053	-0.593000	0.05740	0.055000	0.16094	0.491000	0.48974	TAT		0.333	OR5K4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359114.1			11	49	0	0	0	0.000978	0	11	49				
OR5K1	26339	broad.mit.edu	37	3	98188804	98188804	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr3:98188804C>A	ENST00000332650.5	+	1	481	c.384C>A	c.(382-384)aaC>aaA	p.N128K		NM_001004736.2	NP_001004736.2	Q8NHB7	OR5K1_HUMAN	olfactory receptor, family 5, subfamily K, member 1	128						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.N128K(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CCATATGCAACCCACTGCAGT	0.468																																							uc003dsm.2		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(382-384)AAC>AAA		olfactory receptor, family 5, subfamily K,							123.0	124.0	123.0					3																	98188804		2203	4300	6503	SO:0001583	missense	26339				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:98188804C>A	X64984	CCDS43115.1	3q11.2	2013-09-23			ENSG00000232382	ENSG00000232382		"""GPCR / Class A : Olfactory receptors"""	8349	protein-coding gene	gene with protein product						1370859	Standard	NM_001004736		Approved	HTPCRX10, HSHTPCRX10	uc003dsm.3	Q8NHB7	OTTHUMG00000160048	ENST00000332650.5:c.384C>A	3.37:g.98188804C>A	ENSP00000373193:p.Asn128Lys						p.N128K	NM_001004736	NP_001004736	Q8NHB7	OR5K1_HUMAN			1	384	+			128			Cytoplasmic (Potential).		B9EGY5|Q6IF46	Missense_Mutation	SNP	ENST00000332650.5	37	c.384C>A	CCDS43115.1	.	.	.	.	.	.	.	.	.	.	C	2.650	-0.282178	0.05642	.	.	ENSG00000232382	ENST00000332650	T	0.00397	7.57	5.33	2.3	0.28687	GPCR, rhodopsin-like superfamily (1);	1.245860	0.05677	N	0.589696	T	0.00241	0.0007	L	0.27053	0.805	0.20196	N	0.999922	B	0.06786	0.001	B	0.06405	0.002	T	0.40327	-0.9569	10	0.19147	T	0.46	0.9037	3.7454	0.08545	0.1673:0.5354:0.0:0.2973	.	128	Q8NHB7	OR5K1_HUMAN	K	128	ENSP00000373193:N128K	ENSP00000373193:N128K	N	+	3	2	OR5K1	99671494	0.000000	0.05858	0.305000	0.25099	0.682000	0.39822	-5.118000	0.00149	0.145000	0.18977	0.563000	0.77884	AAC		0.468	OR5K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359019.1			55	51	1	0	1.39843e-22	0.00361	2.49423e-22	55	51				
NR1I2	8856	broad.mit.edu	37	3	119533825	119533825	+	Splice_Site	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr3:119533825G>T	ENST00000337940.4	+	6	959		c.e6-1		NR1I2_ENST00000393716.2_Splice_Site|NR1I2_ENST00000466380.1_Splice_Site	NM_022002.2	NP_071285.1	O75469	NR1I2_HUMAN	nuclear receptor subfamily 1, group I, member 2						drug export (GO:0046618)|exogenous drug catabolic process (GO:0042738)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|steroid metabolic process (GO:0008202)|transcription initiation from RNA polymerase II promoter (GO:0006367)|xenobiotic metabolic process (GO:0006805)|xenobiotic transport (GO:0042908)	nucleoplasm (GO:0005654)	drug binding (GO:0008144)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.?(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.175)	Docetaxel(DB01248)|Erlotinib(DB00530)|Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Paclitaxel(DB01229)|Rifampicin(DB01045)|Rifaximin(DB01220)|Rilpivirine(DB08864)|Vitamin E(DB00163)	CTTGCTGCCAGGGACTTGCCC	0.602																																							uc003edj.2		NA																	1	Unknown(1)		lung(1)	ovary(2)	2						c.e6-1		nuclear receptor subfamily 1, group I, member 2	Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Rifampin(DB01045)|Vitamin E(DB00163)						44.0	40.0	42.0					3																	119533825		2203	4300	6503	SO:0001630	splice_region_variant	8856				drug export|exogenous drug catabolic process|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid metabolic process|xenobiotic metabolic process|xenobiotic transport	nucleoplasm	drug binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding	g.chr3:119533825G>T	AF061056	CCDS2995.1, CCDS43136.1, CCDS54627.1	3q12-q13.3	2013-03-25			ENSG00000144852	ENSG00000144852		"""Nuclear hormone receptors"""	7968	protein-coding gene	gene with protein product	"""pregnane X receptor"", ""orphan nuclear receptor PXR"""	603065				9727070, 9770465	Standard	NM_003889		Approved	ONR1, PXR, BXR, SXR, PAR2	uc003edk.3	O75469	OTTHUMG00000159400	ENST00000337940.4:c.912-1G>T	3.37:g.119533825G>T						NR1I2_uc003edi.2_Splice_Site_p.R228_splice|NR1I2_uc003edk.2_Splice_Site_p.R304_splice|NR1I2_uc003edl.2_Splice_Site_p.R153_splice	p.R265_splice	NM_003889	NP_003880	O75469	NR1I2_HUMAN		GBM - Glioblastoma multiforme(114;0.175)	6	2634	+								Q006P5|Q008C8|Q96AC7|Q9UJ22|Q9UJ23|Q9UJ24|Q9UJ25|Q9UJ26|Q9UJ27|Q9UNW4	Splice_Site	SNP	ENST00000337940.4	37	c.795_splice	CCDS2995.1	.	.	.	.	.	.	.	.	.	.	G	19.88	3.908756	0.72868	.	.	ENSG00000144852	ENST00000393716;ENST00000466380;ENST00000337940	.	.	.	4.31	4.31	0.51392	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.6555	0.68831	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NR1I2	121016515	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	8.610000	0.90902	2.393000	0.81446	0.655000	0.94253	.		0.602	NR1I2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355126.1		Intron	14	42	1	0	3.27435e-08	0.00245	4.22524e-08	14	42				
GPR156	165829	broad.mit.edu	37	3	119900182	119900182	+	Nonsense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr3:119900182G>T	ENST00000464295.1	-	8	1168	c.723C>A	c.(721-723)taC>taA	p.Y241*	GPR156_ENST00000315843.3_Nonsense_Mutation_p.Y241*|GPR156_ENST00000461057.1_Nonsense_Mutation_p.Y237*			Q8NFN8	GP156_HUMAN	G protein-coupled receptor 156	241						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled GABA receptor activity (GO:0004965)	p.Y241*(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32				GBM - Glioblastoma multiforme(114;0.19)		GGCCAGCCAGGTAGGCACCAT	0.562																																							uc011bjf.1		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(1)|skin(1)	2						c.(721-723)TAC>TAA		G protein-coupled receptor 156							61.0	58.0	59.0					3																	119900182		2203	4300	6503	SO:0001587	stop_gained	165829					integral to membrane|plasma membrane	G-protein coupled receptor activity|GABA-B receptor activity	g.chr3:119900182G>T	AF488739	CCDS2997.1, CCDS54629.1	3q13.33	2012-08-21			ENSG00000175697	ENSG00000175697		"""GPCR / Class C : Orphans"""	20844	protein-coding gene	gene with protein product		610464				12591167	Standard	NM_153002		Approved	PGR28, GABABL	uc011bjf.2	Q8NFN8	OTTHUMG00000159406	ENST00000464295.1:c.723C>A	3.37:g.119900182G>T	ENSP00000417261:p.Tyr241*					GPR156_uc011bjg.1_Nonsense_Mutation_p.Y237*	p.Y241*	NM_153002	NP_694547	Q8NFN8	GP156_HUMAN		GBM - Glioblastoma multiforme(114;0.19)	7	723	-			241			Helical; (Potential).		B7ZL66|E9PFZ4|Q14CM1|Q86SN6	Nonsense_Mutation	SNP	ENST00000464295.1	37	c.723C>A	CCDS2997.1	.	.	.	.	.	.	.	.	.	.	G	37	6.231021	0.97394	.	.	ENSG00000175697	ENST00000464295;ENST00000315843;ENST00000461057	.	.	.	6.01	2.31	0.28768	.	0.000000	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-18.683	9.8767	0.41209	0.2716:0.0:0.7284:0.0	.	.	.	.	X	241;241;237	.	.	Y	-	3	2	GPR156	121382872	1.000000	0.71417	0.999000	0.59377	0.951000	0.60555	2.944000	0.49034	0.158000	0.19367	-0.136000	0.14681	TAC		0.562	GPR156-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355139.1	NM_153002		25	97	1	0	1.38267e-23	0.005443	2.50104e-23	25	97				
IQCB1	9657	broad.mit.edu	37	3	121489381	121489381	+	Missense_Mutation	SNP	C	C	G			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr3:121489381C>G	ENST00000310864.6	-	15	1822	c.1608G>C	c.(1606-1608)gaG>gaC	p.E536D	IQCB1_ENST00000349820.6_Missense_Mutation_p.E403D	NM_001023570.2	NP_001018864.2	Q15051	IQCB1_HUMAN	IQ motif containing B1	536					cilium assembly (GO:0042384)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)	calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)	p.E536D(1)		NS(1)|biliary_tract(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)	30				GBM - Glioblastoma multiforme(114;0.0983)		TTAGGAAGAGCTCAGGTTCTT	0.522																																							uc010hre.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1606-1608)GAG>GAC		IQ motif containing B1 isoform a							181.0	175.0	177.0					3																	121489381		2203	4300	6503	SO:0001583	missense	9657				cilium assembly|maintenance of organ identity|photoreceptor cell maintenance	centrosome|photoreceptor connecting cilium	calmodulin binding	g.chr3:121489381C>G	D25278	CCDS33836.1, CCDS33837.1	3q21.1	2014-01-28	2004-09-02		ENSG00000173226	ENSG00000173226			28949	protein-coding gene	gene with protein product	"""nephrocystin-5"""	609237	"""IQ calmodulin-binding motif containing 1"""			15723066	Standard	NM_001023571		Approved	KIAA0036, NPHP5, SLSN5	uc010hre.1	Q15051	OTTHUMG00000128677	ENST00000310864.6:c.1608G>C	3.37:g.121489381C>G	ENSP00000311505:p.Glu536Asp					IQCB1_uc003eek.2_Missense_Mutation_p.E403D|IQCB1_uc010hrf.1_RNA	p.E536D	NM_001023570	NP_001018864	Q15051	IQCB1_HUMAN		GBM - Glioblastoma multiforme(114;0.0983)	15	1823	-			536					Q3KS08|Q3KS09|Q5DKQ7|Q8NI79|Q9BS08	Missense_Mutation	SNP	ENST00000310864.6	37	c.1608G>C	CCDS33837.1	.	.	.	.	.	.	.	.	.	.	C	11.30	1.597668	0.28445	.	.	ENSG00000173226	ENST00000310864;ENST00000349820	T;T	0.77489	-1.1;-1.1	5.34	-3.55	0.04639	.	0.397307	0.29609	N	0.011670	T	0.52158	0.1717	L	0.27053	0.805	0.27423	N	0.954249	B;B	0.33637	0.064;0.42	B;B	0.28232	0.02;0.087	T	0.53215	-0.8470	10	0.12103	T	0.63	-8.3774	6.5711	0.22539	0.1371:0.2711:0.0:0.5918	.	536;403	Q15051;Q15051-2	IQCB1_HUMAN;.	D	536;403	ENSP00000311505:E536D;ENSP00000323756:E403D	ENSP00000311505:E536D	E	-	3	2	IQCB1	122972071	0.546000	0.26457	0.940000	0.37924	0.855000	0.48748	-0.586000	0.05787	-0.601000	0.05783	-0.912000	0.02778	GAG		0.522	IQCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250573.1	NM_014642		6	374	0	0	0	0.001168	0	6	374				
SEMA5B	54437	broad.mit.edu	37	3	122629686	122629686	+	Splice_Site	SNP	C	C	G			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr3:122629686C>G	ENST00000357599.3	-	22	3684		c.e22+1		SEMA5B_ENST00000451055.2_Splice_Site|SEMA5B_ENST00000195173.4_Splice_Site	NM_001031702.3|NM_001256348.1	NP_001026872.2|NP_001243277.1	Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B						cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.?(2)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		aaGGCTCCCACCTTGAATTCC	0.532																																							uc003efz.1		NA																	2	Unknown(2)		lung(2)	ovary(2)|breast(2)|pancreas(2)|central_nervous_system(1)	7						c.e22+1		semaphorin 5B isoform 1							59.0	58.0	59.0					3																	122629686		2203	4300	6503	SO:0001630	splice_region_variant	54437				cell differentiation|nervous system development	integral to membrane	receptor activity	g.chr3:122629686C>G	AB040878	CCDS35491.1, CCDS58848.1, CCDS74995.1	3q21.1	2008-07-18			ENSG00000082684	ENSG00000082684		"""Semaphorins"""	10737	protein-coding gene	gene with protein product		609298		SEMAG		8817451	Standard	NM_001256346		Approved	SemG, KIAA1445, FLJ10372	uc031sbm.1	Q9P283	OTTHUMG00000140392	ENST00000357599.3:c.3297+1G>C	3.37:g.122629686C>G						SEMA5B_uc011bju.1_Splice_Site_p.K1005_splice|SEMA5B_uc003ega.1_Splice_Site|SEMA5B_uc003efy.1_Splice_Site_p.K77_splice	p.K1099_splice	NM_001031702	NP_001026872	Q9P283	SEM5B_HUMAN		GBM - Glioblastoma multiforme(114;0.0367)	22	3601	-								A8K5U2|B7Z393|F8W9U8|Q6DD89|Q6UY12|Q9NW17	Splice_Site	SNP	ENST00000357599.3	37	c.3297_splice	CCDS35491.1	.	.	.	.	.	.	.	.	.	.	C	19.05	3.751433	0.69533	.	.	ENSG00000082684	ENST00000357599;ENST00000451541;ENST00000418793;ENST00000451055	.	.	.	4.14	4.14	0.48551	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5433	0.76074	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SEMA5B	124112376	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	6.867000	0.75511	2.151000	0.67156	0.462000	0.41574	.		0.532	SEMA5B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000277165.1	NM_001031702	Intron	32	24	0	0	0	0.003271	0	32	24				
ADCY5	111	broad.mit.edu	37	3	123166346	123166346	+	Silent	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr3:123166346G>T	ENST00000462833.1	-	1	2259	c.1047C>A	c.(1045-1047)gcC>gcA	p.A349A		NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	349					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenosine receptor signaling pathway (GO:0001973)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)	p.A349A(1)		breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		TGAGCACTGCGGCCCGCATGC	0.682																																							uc003egh.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(4)	4						c.(1045-1047)GCC>GCA		adenylate cyclase 5							24.0	24.0	24.0					3																	123166346		2201	4296	6497	SO:0001819	synonymous_variant	111				activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	g.chr3:123166346G>T	U65473	CCDS3022.1, CCDS56274.1	3q21.1	2013-02-04			ENSG00000173175	ENSG00000173175	4.6.1.1	"""Adenylate cyclases"""	236	protein-coding gene	gene with protein product		600293				10481931	Standard	NM_183357		Approved	AC5	uc003egh.2	O95622	OTTHUMG00000159517	ENST00000462833.1:c.1047C>A	3.37:g.123166346G>T							p.A349A	NM_183357	NP_899200	O95622	ADCY5_HUMAN		GBM - Glioblastoma multiforme(114;0.0342)	1	1047	-			349					B7Z8A6|Q7RTV7|Q8NFM3	Silent	SNP	ENST00000462833.1	37	c.1047C>A	CCDS3022.1																																																																																				0.682	ADCY5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355889.4	XM_171048		10	28	1	0	2.68362e-12	0.001368	4.01561e-12	10	28				
C3orf22	152065	broad.mit.edu	37	3	126270897	126270897	+	Missense_Mutation	SNP	G	G	T	rs145199781	byFrequency	TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr3:126270897G>T	ENST00000318225.2	-	3	536	c.158C>A	c.(157-159)aCg>aAg	p.T53K		NM_152533.1	NP_689746.1	Q8N5N4	CC022_HUMAN	chromosome 3 open reading frame 22	53								p.T53K(1)		large_intestine(1)|lung(3)|ovary(2)|prostate(1)	7				GBM - Glioblastoma multiforme(114;0.147)		CAGCTGCACCGTGTTCGAGTC	0.622																																							uc003ejb.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(157-159)ACG>AAG		hypothetical protein LOC152065							109.0	92.0	98.0					3																	126270897		2203	4300	6503	SO:0001583	missense	152065							g.chr3:126270897G>T		CCDS3040.1	3q21.3	2011-09-30			ENSG00000180697	ENSG00000180697			28534	protein-coding gene	gene with protein product						12477932	Standard	NM_152533		Approved	MGC34728	uc003ejb.3	Q8N5N4	OTTHUMG00000162731	ENST00000318225.2:c.158C>A	3.37:g.126270897G>T	ENSP00000316644:p.Thr53Lys						p.T53K	NM_152533	NP_689746	Q8N5N4	CC022_HUMAN		GBM - Glioblastoma multiforme(114;0.147)	3	487	-			53					B3KUS9	Missense_Mutation	SNP	ENST00000318225.2	37	c.158C>A	CCDS3040.1	.	.	.	.	.	.	.	.	.	.	G	0.007	-1.965876	0.00461	.	.	ENSG00000180697	ENST00000318225	.	.	.	3.0	-4.21	0.03812	.	.	.	.	.	T	0.07999	0.0200	N	0.04508	-0.205	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.29701	-1.0003	8	0.02654	T	1	-10.5129	0.2438	0.00196	0.2866:0.1998:0.1476:0.3661	.	53	Q8N5N4	CC022_HUMAN	K	53	.	ENSP00000316644:T53K	T	-	2	0	C3orf22	127753587	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.235000	0.02928	-1.205000	0.02645	-2.733000	0.00129	ACG		0.622	C3orf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370231.2	NM_152533		15	83	1	0	4.93089e-13	0.00245	7.56662e-13	15	83				
IFT122	55764	broad.mit.edu	37	3	129239079	129239079	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr3:129239079C>T	ENST00000348417.2	+	30	3774	c.3697C>T	c.(3697-3699)Cgc>Tgc	p.R1233C	IFT122_ENST00000504021.1_Missense_Mutation_p.R1110C|IFT122_ENST00000347300.2_Missense_Mutation_p.R1174C|IFT122_ENST00000296266.3_Missense_Mutation_p.R1284C|IFT122_ENST00000431818.2_Missense_Mutation_p.R1083C|IFT122_ENST00000349441.2_Missense_Mutation_p.R1123C|IFT122_ENST00000507564.1_Missense_Mutation_p.R1226C|IFT122_ENST00000440957.2_Missense_Mutation_p.R1024C	NM_052989.1	NP_443715.1	Q9HBG6	IF122_HUMAN	intraflagellar transport 122	1233					camera-type eye morphogenesis (GO:0048593)|ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|cilium morphogenesis (GO:0060271)|embryonic body morphogenesis (GO:0010172)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic heart tube left/right pattern formation (GO:0060971)|establishment of protein localization to organelle (GO:0072594)|intraciliary anterograde transport (GO:0035720)|intraciliary retrograde transport (GO:0035721)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|neural tube closure (GO:0001843)|protein localization to cilium (GO:0061512)|signal transduction downstream of smoothened (GO:0007227)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|intraciliary transport particle A (GO:0030991)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|primary cilium (GO:0072372)		p.R1284C(2)		breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						CCCCTACTGCCGCAGGTGCAA	0.582																																							uc003emm.2		NA																	2	Substitution - Missense(2)		lung(1)|endometrium(1)	ovary(1)|skin(1)	2						c.(3697-3699)CGC>TGC		WD repeat domain 10 isoform 2							77.0	63.0	68.0					3																	129239079		2203	4300	6503	SO:0001583	missense	55764				camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium		g.chr3:129239079C>T	AF244930	CCDS3059.1, CCDS3060.1, CCDS3061.1, CCDS3062.1, CCDS63770.1, CCDS63772.1, CCDS63773.1	3q21	2014-07-03	2014-07-03	2005-11-02	ENSG00000163913	ENSG00000163913		"""WD repeat domain containing"", ""Intraflagellar transport homologs"""	13556	protein-coding gene	gene with protein product		606045	"""WD repeat domain 10"", ""intraflagellar transport 122 homolog (Chlamydomonas)"""	WDR10		11242542	Standard	NM_052985		Approved	WDR140, WDR10p, SPG	uc003emm.3	Q9HBG6	OTTHUMG00000159516	ENST00000348417.2:c.3697C>T	3.37:g.129239079C>T	ENSP00000324005:p.Arg1233Cys					IFT122_uc003eml.2_Missense_Mutation_p.R1284C|IFT122_uc003emn.2_Missense_Mutation_p.R1174C|IFT122_uc003emo.2_Missense_Mutation_p.R1123C|IFT122_uc003emp.2_Missense_Mutation_p.R1083C|IFT122_uc010htc.2_Missense_Mutation_p.R1226C|IFT122_uc011bky.1_Missense_Mutation_p.R1024C|IFT122_uc003emq.2_Missense_Mutation_p.R1073C|IFT122_uc003emr.2_Missense_Mutation_p.R986C|IFT122_uc011bla.1_Missense_Mutation_p.R1007C|IFT122_uc010hte.2_Missense_Mutation_p.R559C|IFT122_uc003ems.2_Missense_Mutation_p.R615C	p.R1233C	NM_052989	NP_443715	Q9HBG6	IF122_HUMAN			30	3903	+			1233					B3KW53|B4DEY9|B4DPW7|E7EQF4|E9PDG2|E9PDX2|G3XAB1|H7C3C0|Q53G36|Q8TC06|Q9BTB9|Q9BTY4|Q9HAT9|Q9HBG5|Q9NV68|Q9UF80	Missense_Mutation	SNP	ENST00000348417.2	37	c.3697C>T	CCDS3061.1	.	.	.	.	.	.	.	.	.	.	C	33	5.200346	0.94997	.	.	ENSG00000163913	ENST00000347300;ENST00000296266;ENST00000507564;ENST00000431818;ENST00000504021;ENST00000349441;ENST00000348417;ENST00000446384;ENST00000440957	T;T;T;T;T;T;T;T	0.71461	0.1;-0.57;-0.41;-0.36;0.28;0.26;0.08;-0.32	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	D	0.86814	0.6023	M	0.84585	2.705	0.80722	D	1	D;D;D;D;D;D;D;D;D;D	0.89917	0.999;1.0;0.998;1.0;1.0;1.0;1.0;1.0;0.998;0.999	P;D;P;D;D;D;D;D;P;P	0.87578	0.855;0.96;0.65;0.998;0.992;0.995;0.992;0.997;0.72;0.855	D	0.87833	0.2646	10	0.87932	D	0	-23.6646	20.1054	0.97890	0.0:1.0:0.0:0.0	.	1024;559;1226;621;1110;1075;1123;1174;1233;1284	E9PDG2;B3KUD1;E7EQF4;B3KT43;B4DEY9;B4DPW7;Q9BTY4;Q9HBG6-3;Q9HBG6;G3XAB1	.;.;.;.;.;.;.;.;IF122_HUMAN;.	C	1174;1284;1226;1083;1110;1123;1233;1075;1024	ENSP00000323973:R1174C;ENSP00000296266:R1284C;ENSP00000425536:R1226C;ENSP00000410946:R1083C;ENSP00000422179:R1110C;ENSP00000324165:R1123C;ENSP00000324005:R1233C;ENSP00000401569:R1024C	ENSP00000296266:R1284C	R	+	1	0	IFT122	130721769	1.000000	0.71417	0.998000	0.56505	0.927000	0.56198	6.038000	0.70964	2.757000	0.94681	0.655000	0.94253	CGC		0.582	IFT122-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355852.1	NM_018262		8	15	0	0	0	0.006214	0	8	15				
COL6A5	256076	broad.mit.edu	37	3	130188091	130188091	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr3:130188091G>T	ENST00000432398.2	+	38	7737	c.7243G>T	c.(7243-7245)Gct>Tct	p.A2415S	COL6A5_ENST00000265379.6_Missense_Mutation_p.A2415S	NM_153264.5	NP_694996.5	A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	2415	Nonhelical region.|VWFA 10. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.A454S(1)|p.A2415S(1)		endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						TGTAATATCTGCTGGCGAAAC	0.413																																							uc010htj.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(7243-7245)GCT>TCT		collagen, type XXIX, alpha 1							121.0	103.0	109.0					3																	130188091		1854	4104	5958	SO:0001583	missense	256076				axon guidance|cell adhesion	collagen		g.chr3:130188091G>T	AK093199		3q21.3	2013-01-16	2010-05-24	2010-05-24	ENSG00000172752	ENSG00000172752		"""Collagens"""	26674	protein-coding gene	gene with protein product	"""von Willebrand factor A domain containing 4"""	611916	"""collagen, type XXIX, alpha 1"""	COL29A1		17850181	Standard	NM_153264		Approved	FLJ35880, VWA4	uc010htk.2	A8TX70	OTTHUMG00000159712	ENST00000432398.2:c.7243G>T	3.37:g.130188091G>T	ENSP00000390895:p.Ala2415Ser					COL29A1_uc010hti.1_RNA|COL29A1_uc010htk.1_Missense_Mutation_p.A454S	p.A2415S	NM_153264	NP_694996	A8TX70	CO6A5_HUMAN			38	7737	+			2415			VWFA 10.|Nonhelical region.		A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36	Missense_Mutation	SNP	ENST00000432398.2	37	c.7243G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.108|9.108	1.005961|1.005961	0.19199|0.19199	.|.	.|.	ENSG00000172752|ENSG00000172752	ENST00000432398;ENST00000265379;ENST00000373157;ENST00000512482|ENST00000512836	D;D;D;D|.	0.82711|.	-1.64;-1.64;-1.64;-1.64|.	5.13|5.13	4.25|4.25	0.50352|0.50352	von Willebrand factor, type A (3);|.	0.128223|.	0.35555|.	N|.	0.003129|.	T|T	0.48926|0.48926	0.1527|0.1527	M|M	0.71206|0.71206	2.165|2.165	0.21782|0.21782	N|N	0.999546|0.999546	D;D|.	0.69078|.	0.997;0.991|.	D;D|.	0.70227|.	0.968;0.915|.	T|T	0.43393|0.43393	-0.9394|-0.9394	10|5	0.11485|.	T|.	0.65|.	.|.	7.2028|7.2028	0.25891|0.25891	0.0883:0.0:0.7405:0.1712|0.0883:0.0:0.7405:0.1712	.|.	2415;2415|.	A8TX70;A8TX70-2|.	CO6A5_HUMAN;.|.	S|F	2415;2415;358;250|666	ENSP00000390895:A2415S;ENSP00000265379:A2415S;ENSP00000362250:A358S;ENSP00000424968:A250S|.	ENSP00000265379:A2415S|.	A|C	+|+	1|2	0|0	COL6A5|COL6A5	131670781|131670781	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.039000|0.039000	0.13416|0.13416	2.560000|2.560000	0.45896|0.45896	2.388000|2.388000	0.81334|0.81334	0.655000|0.655000	0.94253|0.94253	GCT|TGC		0.413	COL6A5-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_153264		27	77	1	0	1.17739e-12	0.005443	1.79062e-12	27	77				
COL6A6	131873	broad.mit.edu	37	3	130290119	130290119	+	Silent	SNP	C	C	G			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr3:130290119C>G	ENST00000358511.6	+	6	2890	c.2859C>G	c.(2857-2859)ccC>ccG	p.P953P	COL6A6_ENST00000453409.2_Silent_p.P953P	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	953	Nonhelical region.|VWFA 5. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.P953P(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						GTGCCAATCCCGTGGAGCTGT	0.507																																							uc010htl.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(6)|central_nervous_system(1)|pancreas(1)	8						c.(2857-2859)CCC>CCG		collagen type VI alpha 6 precursor							58.0	56.0	57.0					3																	130290119		1973	4167	6140	SO:0001819	synonymous_variant	131873				axon guidance|cell adhesion	collagen		g.chr3:130290119C>G	AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"""Collagens"""	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.2859C>G	3.37:g.130290119C>G							p.P953P	NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN			6	2890	+			953			VWFA 5.|Nonhelical region.		A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Silent	SNP	ENST00000358511.6	37	c.2859C>G	CCDS46911.1																																																																																				0.507	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	NM_001102608		29	56	0	0	0	0.009535	0	29	56				
PIK3R4	30849	broad.mit.edu	37	3	130427168	130427168	+	Missense_Mutation	SNP	C	C	A	rs151220675		TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr3:130427168C>A	ENST00000356763.3	-	10	3057	c.2500G>T	c.(2500-2502)Gtt>Ttt	p.V834F		NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	834					innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	axoneme (GO:0005930)|cytosol (GO:0005829)|late endosome (GO:0005770)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V834F(2)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						TTGGTTTTAACAAGATCAACT	0.388																																							uc003enj.2		NA																	2	Substitution - Missense(2)	p.V834F(1)	lung(1)|skin(1)	ovary(3)|lung(2)|breast(2)|skin(2)|stomach(1)|central_nervous_system(1)|kidney(1)	12						c.(2500-2502)GTT>TTT		phosphoinositide-3-kinase, regulatory subunit 4							199.0	179.0	186.0					3																	130427168		2203	4300	6503	SO:0001583	missense	30849				fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr3:130427168C>A	Y08991	CCDS3067.1	3q22.1	2013-01-10	2008-02-04		ENSG00000196455	ENSG00000196455		"""WD repeat domain containing"""	8982	protein-coding gene	gene with protein product		602610				8999962	Standard	NM_014602		Approved	VPS15, p150	uc003enj.3	Q99570	OTTHUMG00000159645	ENST00000356763.3:c.2500G>T	3.37:g.130427168C>A	ENSP00000349205:p.Val834Phe						p.V834F	NM_014602	NP_055417	Q99570	PI3R4_HUMAN			10	3081	-			834					Q2TBF4	Missense_Mutation	SNP	ENST00000356763.3	37	c.2500G>T	CCDS3067.1	.	.	.	.	.	.	.	.	.	.	C	15.22	2.769345	0.49680	.	.	ENSG00000196455	ENST00000356763;ENST00000508273	T;T	0.51574	0.96;0.7	5.47	4.6	0.57074	.	0.123779	0.53938	D	0.000045	T	0.38904	0.1058	L	0.50333	1.59	0.54753	D	0.999984	B	0.31485	0.325	B	0.26310	0.068	T	0.32428	-0.9907	10	0.54805	T	0.06	-23.8423	8.9864	0.35997	0.0:0.7767:0.0:0.2233	.	834	Q99570	PI3R4_HUMAN	F	834;193	ENSP00000349205:V834F;ENSP00000427302:V193F	ENSP00000349205:V834F	V	-	1	0	PIK3R4	131909858	1.000000	0.71417	0.998000	0.56505	0.969000	0.65631	1.878000	0.39608	1.313000	0.45069	-0.244000	0.11960	GTT		0.388	PIK3R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356668.1	NM_014602		21	241	1	0	3.10358e-05	0.002299	3.62498e-05	21	241				
PIK3R4	30849	broad.mit.edu	37	3	130435261	130435261	+	Silent	SNP	A	A	C			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr3:130435261A>C	ENST00000356763.3	-	9	2867	c.2310T>G	c.(2308-2310)ctT>ctG	p.L770L		NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	770					innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	axoneme (GO:0005930)|cytosol (GO:0005829)|late endosome (GO:0005770)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.L770L(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						ACTTCTTCAGAAGCTGTGCTA	0.398																																							uc003enj.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)|lung(2)|breast(2)|skin(2)|stomach(1)|central_nervous_system(1)|kidney(1)	12						c.(2308-2310)CTT>CTG		phosphoinositide-3-kinase, regulatory subunit 4							90.0	95.0	93.0					3																	130435261		2203	4300	6503	SO:0001819	synonymous_variant	30849				fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr3:130435261A>C	Y08991	CCDS3067.1	3q22.1	2013-01-10	2008-02-04		ENSG00000196455	ENSG00000196455		"""WD repeat domain containing"""	8982	protein-coding gene	gene with protein product		602610				8999962	Standard	NM_014602		Approved	VPS15, p150	uc003enj.3	Q99570	OTTHUMG00000159645	ENST00000356763.3:c.2310T>G	3.37:g.130435261A>C							p.L770L	NM_014602	NP_055417	Q99570	PI3R4_HUMAN			9	2891	-			770					Q2TBF4	Silent	SNP	ENST00000356763.3	37	c.2310T>G	CCDS3067.1																																																																																				0.398	PIK3R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356668.1	NM_014602		70	60	0	0	0	0.00361	0	70	60				
ACPP	55	broad.mit.edu	37	3	132075604	132075604	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr3:132075604G>T	ENST00000336375.5	+	10	1133	c.1043G>T	c.(1042-1044)aGc>aTc	p.S348I	ACPP_ENST00000351273.7_Missense_Mutation_p.S348I|ACPP_ENST00000475741.1_Missense_Mutation_p.S315I	NM_001099.4	NP_001090.2	P15309	PPAP_HUMAN	acid phosphatase, prostate	348					adenosine metabolic process (GO:0046085)|dephosphorylation (GO:0016311)|nucleotide metabolic process (GO:0009117)|positive regulation of adenosine receptor signaling pathway (GO:0060168)|purine nucleobase metabolic process (GO:0006144)|regulation of sensory perception of pain (GO:0051930)|thiamine metabolic process (GO:0006772)	apical part of cell (GO:0045177)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|Golgi cisterna (GO:0031985)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|lysosomal membrane (GO:0005765)|multivesicular body (GO:0005771)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|vesicle membrane (GO:0012506)	5'-nucleotidase activity (GO:0008253)|acid phosphatase activity (GO:0003993)|choline binding (GO:0033265)|identical protein binding (GO:0042802)|lysophosphatidic acid phosphatase activity (GO:0052642)|phosphatase activity (GO:0016791)|thiamine phosphate phosphatase activity (GO:0042131)	p.S348I(2)		NS(1)|breast(1)|endometrium(2)|large_intestine(5)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	27						CCTGGCTGCAGCCCCAGCTGT	0.557																																							uc010htp.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1042-1044)AGC>ATC		acid phosphatase, prostate short isoform							161.0	140.0	147.0					3																	132075604		2203	4300	6503	SO:0001583	missense	55					extracellular region|lysosomal membrane	5'-nucleotidase activity|acid phosphatase activity	g.chr3:132075604G>T		CCDS3073.1, CCDS46916.1	3q22.1	2012-05-16			ENSG00000014257	ENSG00000014257	3.1.3.2		125	protein-coding gene	gene with protein product		171790					Standard	NM_001099		Approved	ACP3, ACP-3	uc003eop.4	P15309	OTTHUMG00000159650	ENST00000336375.5:c.1043G>T	3.37:g.132075604G>T	ENSP00000337471:p.Ser348Ile					ACPP_uc003eon.3_Missense_Mutation_p.S315I|ACPP_uc003eop.3_Missense_Mutation_p.S348I	p.S348I	NM_001099	NP_001090	P15309	PPAP_HUMAN			10	1133	+			348					D3DNC6|Q5FBY0|Q96KY0|Q96QK9|Q96QM0	Missense_Mutation	SNP	ENST00000336375.5	37	c.1043G>T	CCDS3073.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.60|13.60	2.286115|2.286115	0.40394|0.40394	.|.	.|.	ENSG00000014257|ENSG00000014257	ENST00000507647|ENST00000336375;ENST00000475741;ENST00000351273	.|T;T;T	.|0.19394	.|2.15;2.15;2.15	5.67|5.67	3.87|3.87	0.44632|0.44632	.|.	.|0.163818	.|0.43579	.|D	.|0.000554	T|T	0.24509|0.24509	0.0594|0.0594	L|L	0.52905|0.52905	1.665|1.665	0.21499|0.21499	N|N	0.999661|0.999661	.|D;D;P	.|0.62365	.|0.984;0.991;0.948	.|B;P;B	.|0.45449	.|0.288;0.481;0.235	T|T	0.07462|0.07462	-1.0771|-1.0771	5|10	.|0.46703	.|T	.|0.11	.|.	12.702|12.702	0.57038|0.57038	0.0:0.6391:0.3609:0.0|0.0:0.6391:0.3609:0.0	.|.	.|348;348;315	.|P15309;P15309-2;Q5FBY0	.|PPAP_HUMAN;.;.	S|I	33|348;315;348	.|ENSP00000337471:S348I;ENSP00000417744:S315I;ENSP00000323036:S348I	.|ENSP00000337471:S348I	A|S	+|+	1|2	0|0	ACPP|ACPP	133558294|133558294	0.692000|0.692000	0.27719|0.27719	0.391000|0.391000	0.26233|0.26233	0.034000|0.034000	0.12701|0.12701	1.054000|1.054000	0.30455|0.30455	0.741000|0.741000	0.32674|0.32674	-0.165000|-0.165000	0.13383|0.13383	GCC|AGC		0.557	ACPP-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000356699.2	NM_001099		7	143	1	0	3.86212e-05	0.008291	4.42498e-05	7	143				
NPHP3	27031	broad.mit.edu	37	3	132407565	132407565	+	Silent	SNP	A	A	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr3:132407565A>T	ENST00000337331.5	-	21	3140	c.3054T>A	c.(3052-3054)gcT>gcA	p.A1018A	NPHP3_ENST00000326682.8_3'UTR	NM_153240.4	NP_694972.3	Q7Z494	NPHP3_HUMAN	nephronophthisis 3 (adolescent)	1018					atrial septum development (GO:0003283)|cilium morphogenesis (GO:0060271)|convergent extension involved in gastrulation (GO:0060027)|determination of intestine left/right asymmetry (GO:0071908)|determination of left/right symmetry (GO:0007368)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|determination of stomach left/right asymmetry (GO:0071909)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|establishment or maintenance of cell polarity (GO:0007163)|extracellular matrix organization (GO:0030198)|heart looping (GO:0001947)|kidney development (GO:0001822)|kidney morphogenesis (GO:0060993)|lipid metabolic process (GO:0006629)|lung development (GO:0030324)|maintenance of organ identity (GO:0048496)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|photoreceptor cell maintenance (GO:0045494)|regulation of cAMP metabolic process (GO:0030814)|regulation of planar cell polarity pathway involved in neural tube closure (GO:2000167)|regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)|ureter development (GO:0072189)|Wnt signaling pathway (GO:0016055)	cilium (GO:0005929)|primary cilium (GO:0072372)		p.A1018A(1)		NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CCGCACCATAAGCATTTTCTG	0.413																																							uc003epe.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(3052-3054)GCT>GCA		nephrocystin 3							124.0	127.0	126.0					3																	132407565		2203	4300	6503	SO:0001819	synonymous_variant	27031				maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway	cilium	protein binding	g.chr3:132407565A>T	AB056657	CCDS3078.1	3q22	2014-07-18			ENSG00000113971	ENSG00000113971		"""Tetratricopeptide (TTC) repeat domain containing"""	7907	protein-coding gene	gene with protein product	"""nephrocystin-3"", ""Meckel syndrome, type 7"", ""cilia and flagella associated protein 31"""	608002				12872122, 15381417	Standard	NM_153240		Approved	NPH3, KIAA2000, FLJ30691, FLJ36696, MKS7, SLSN3, CFAP31	uc003epe.2	Q7Z494	OTTHUMG00000159713	ENST00000337331.5:c.3054T>A	3.37:g.132407565A>T						NPHP3_uc003epd.1_Silent_p.A260A	p.A1018A	NM_153240	NP_694972	Q7Z494	NPHP3_HUMAN			21	3131	-			1018			TPR 5.		Q5JPE3|Q5JPE6|Q68D99|Q6NVH3|Q7Z492|Q7Z493|Q8N9R2|Q8NCM5|Q96N70|Q96NK2	Silent	SNP	ENST00000337331.5	37	c.3054T>A	CCDS3078.1																																																																																				0.413	NPHP3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357020.2	NM_153240		25	259	0	0	0	0.005443	0	25	259				
IL20RB	53833	broad.mit.edu	37	3	136701172	136701172	+	Missense_Mutation	SNP	A	A	G			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr3:136701172A>G	ENST00000329582.4	+	3	635	c.386A>G	c.(385-387)cAt>cGt	p.H129R	IL20RB_ENST00000484501.1_Intron|IL20RB-AS1_ENST00000462176.2_RNA|IL20RB_ENST00000309741.5_Missense_Mutation_p.H82R	NM_144717.3	NP_653318.2	Q6UXL0	I20RB_HUMAN	interleukin 20 receptor beta	129	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				homeostasis of number of cells within a tissue (GO:0048873)|immune response-inhibiting signal transduction (GO:0002765)|inflammatory response to antigenic stimulus (GO:0002437)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of type IV hypersensitivity (GO:0001808)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-4 production (GO:0032753)	integral component of membrane (GO:0016021)		p.H129R(2)		kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14						ATCCTGAAGCATCCCTTTAAT	0.507																																							uc003eri.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(385-387)CAT>CGT		interleukin 20 receptor beta precursor							107.0	93.0	98.0					3																	136701172		2203	4300	6503	SO:0001583	missense	53833					integral to membrane	receptor activity	g.chr3:136701172A>G	BC033292	CCDS3093.1	3q22.3	2013-02-11			ENSG00000174564	ENSG00000174564		"""Interleukins and interleukin receptors"", ""Fibronectin type III domain containing"""	6004	protein-coding gene	gene with protein product		605621	"""fibronectin type III domain containing 6"""	FNDC6		11163236, 16703417	Standard	NM_144717		Approved	DIRS1, IL-20R2, MGC34923	uc003eri.2	Q6UXL0	OTTHUMG00000159779	ENST00000329582.4:c.386A>G	3.37:g.136701172A>G	ENSP00000328133:p.His129Arg					IL20RB_uc003erj.1_RNA|IL20RB_uc010hud.1_5'UTR	p.H129R	NM_144717	NP_653318	Q6UXL0	I20RB_HUMAN			3	635	+			129			Fibronectin type-III 1.|Extracellular (Potential).		B4DL40|Q6P438|Q8IYY5|Q8TAJ7	Missense_Mutation	SNP	ENST00000329582.4	37	c.386A>G	CCDS3093.1	.	.	.	.	.	.	.	.	.	.	A	0.133	-1.111024	0.01813	.	.	ENSG00000174564	ENST00000329582;ENST00000309741	T;T	0.73469	-0.75;-0.75	4.91	1.0	0.19881	Fibronectin, type III (2);Immunoglobulin-like fold (1);	1.410560	0.04333	N	0.352758	T	0.57359	0.2048	L	0.27053	0.805	0.09310	N	1	B	0.27625	0.183	B	0.19666	0.026	T	0.36432	-0.9748	10	0.13108	T	0.6	-0.4581	5.0057	0.14286	0.5308:0.3712:0.098:0.0	.	129	Q6UXL0	I20RB_HUMAN	R	129;82	ENSP00000328133:H129R;ENSP00000311979:H82R	ENSP00000311979:H82R	H	+	2	0	IL20RB	138183862	0.000000	0.05858	0.010000	0.14722	0.157000	0.22087	0.025000	0.13577	0.259000	0.21709	0.402000	0.26972	CAT		0.507	IL20RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357277.2	NM_144717		14	41	0	0	0	0.00245	0	14	41				
CLSTN2	64084	broad.mit.edu	37	3	140265370	140265370	+	Silent	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr3:140265370C>A	ENST00000458420.3	+	10	1711	c.1521C>A	c.(1519-1521)acC>acA	p.T507T		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	507					homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)	p.T507T(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						GAGAAGTCACCAAACCACAGT	0.522										HNSCC(16;0.037)																											GBM(45;858 913 3709 36904 37282)	GBM(45;858 913 3709 36904 37282)	uc003etn.2		NA																	1	Substitution - coding silent(1)		lung(1)	skin(3)|large_intestine(2)|pancreas(1)|central_nervous_system(1)	7						c.(1519-1521)ACC>ACA		calsyntenin 2 precursor							67.0	64.0	65.0					3																	140265370		2203	4300	6503	SO:0001819	synonymous_variant	64084				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding	g.chr3:140265370C>A	AJ278018	CCDS3112.1	3q23	2011-07-01			ENSG00000158258	ENSG00000158258		"""Cadherins / Cadherin-related"""	17448	protein-coding gene	gene with protein product	"""cadherin-related family member 13"""	611323				12498782	Standard	NM_022131		Approved	CSTN2, CS2, FLJ39113, CDHR13	uc003etn.3	Q9H4D0	OTTHUMG00000160139	ENST00000458420.3:c.1521C>A	3.37:g.140265370C>A		HNSCC(16;0.037)				CLSTN2_uc003etm.2_Silent_p.T507T	p.T507T	NM_022131	NP_071414	Q9H4D0	CSTN2_HUMAN			10	1711	+			507			Extracellular (Potential).		B2RCW5|D3DNF4|Q3SX54|Q3ZB76|Q5UE56|Q96HZ2|Q9BSS0	Silent	SNP	ENST00000458420.3	37	c.1521C>A	CCDS3112.1																																																																																				0.522	CLSTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359393.3	NM_022131		17	42	1	0	4.96729e-08	0.008871	6.3776e-08	17	42				
ZIC1	7545	broad.mit.edu	37	3	147128064	147128064	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr3:147128064G>C	ENST00000282928.4	+	1	894	c.165G>C	c.(163-165)gaG>gaC	p.E55D		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	55					adult walking behavior (GO:0007628)|brain development (GO:0007420)|cell differentiation (GO:0030154)|inner ear morphogenesis (GO:0042472)|pattern specification process (GO:0007389)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord development (GO:0021510)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E55D(1)		central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						GTTCGCACGAGCTGGCTTCGG	0.711																																							uc003ewe.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(163-165)GAG>GAC		zinc finger protein of the cerebellum 1							26.0	29.0	28.0					3																	147128064		2197	4292	6489	SO:0001583	missense	7545				behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:147128064G>C	D76435	CCDS3136.1	3q24	2013-01-08	2011-05-19		ENSG00000152977	ENSG00000152977		"""Zinc fingers, C2H2-type"""	12872	protein-coding gene	gene with protein product		600470	"""Zic family member 1 (odd-paired Drosophila homolog)"", ""Zic family member 1 (odd-paired homolog, Drosophila)"""			8542595	Standard	NM_003412		Approved	ZIC, ZNF201	uc003ewe.3	Q15915	OTTHUMG00000159456	ENST00000282928.4:c.165G>C	3.37:g.147128064G>C	ENSP00000282928:p.Glu55Asp						p.E55D	NM_003412	NP_003403	Q15915	ZIC1_HUMAN			1	884	+			55					Q2M3N1	Missense_Mutation	SNP	ENST00000282928.4	37	c.165G>C	CCDS3136.1	.	.	.	.	.	.	.	.	.	.	G	0.230	-1.022026	0.02061	.	.	ENSG00000152977	ENST00000282928	T	0.11604	2.76	4.04	2.19	0.27852	.	0.058894	0.64402	D	0.000002	T	0.02807	0.0084	N	0.02315	-0.6	0.32718	N	0.510692	B	0.02656	0.0	B	0.04013	0.001	T	0.42716	-0.9435	10	0.02654	T	1	.	5.2226	0.15377	0.1916:0.1684:0.64:0.0	.	55	Q15915	ZIC1_HUMAN	D	55	ENSP00000282928:E55D	ENSP00000282928:E55D	E	+	3	2	ZIC1	148610754	1.000000	0.71417	1.000000	0.80357	0.850000	0.48378	1.190000	0.32126	0.189000	0.20188	-0.417000	0.06048	GAG		0.711	ZIC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355497.1	NM_003412		4	38	0	0	0	0.001168	0	4	38				
ZIC1	7545	broad.mit.edu	37	3	147128846	147128846	+	Missense_Mutation	SNP	C	C	G			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr3:147128846C>G	ENST00000282928.4	+	1	1676	c.947C>G	c.(946-948)tCc>tGc	p.S316C		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	316					adult walking behavior (GO:0007628)|brain development (GO:0007420)|cell differentiation (GO:0030154)|inner ear morphogenesis (GO:0042472)|pattern specification process (GO:0007389)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord development (GO:0021510)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S316C(1)		central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						TTCGCGCGCTCCGAGAATTTA	0.552																																							uc003ewe.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(946-948)TCC>TGC		zinc finger protein of the cerebellum 1							52.0	56.0	55.0					3																	147128846		2203	4300	6503	SO:0001583	missense	7545				behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:147128846C>G	D76435	CCDS3136.1	3q24	2013-01-08	2011-05-19		ENSG00000152977	ENSG00000152977		"""Zinc fingers, C2H2-type"""	12872	protein-coding gene	gene with protein product		600470	"""Zic family member 1 (odd-paired Drosophila homolog)"", ""Zic family member 1 (odd-paired homolog, Drosophila)"""			8542595	Standard	NM_003412		Approved	ZIC, ZNF201	uc003ewe.3	Q15915	OTTHUMG00000159456	ENST00000282928.4:c.947C>G	3.37:g.147128846C>G	ENSP00000282928:p.Ser316Cys						p.S316C	NM_003412	NP_003403	Q15915	ZIC1_HUMAN			1	1666	+			316			C2H2-type 3.		Q2M3N1	Missense_Mutation	SNP	ENST00000282928.4	37	c.947C>G	CCDS3136.1	.	.	.	.	.	.	.	.	.	.	C	19.47	3.833894	0.71373	.	.	ENSG00000152977	ENST00000282928	D	0.96232	-3.95	3.89	3.89	0.44902	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.96914	0.8992	L	0.58101	1.795	0.80722	D	1	D	0.53619	0.961	P	0.58780	0.845	D	0.97700	1.0184	10	0.87932	D	0	.	16.2006	0.82071	0.0:1.0:0.0:0.0	.	316	Q15915	ZIC1_HUMAN	C	316	ENSP00000282928:S316C	ENSP00000282928:S316C	S	+	2	0	ZIC1	148611536	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	5.736000	0.68597	1.862000	0.54008	0.561000	0.74099	TCC		0.552	ZIC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355497.1	NM_003412		19	22	0	0	0	0.006122	0	19	22				
CPA3	1359	broad.mit.edu	37	3	148614351	148614351	+	Missense_Mutation	SNP	A	A	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr3:148614351A>T	ENST00000296046.3	+	11	1163	c.1111A>T	c.(1111-1113)Atc>Ttc	p.I371F	RP11-680B3.2_ENST00000488190.1_RNA	NM_001870.2	NP_001861.2	P15088	CBPA3_HUMAN	carboxypeptidase A3 (mast cell)	371					angiotensin maturation (GO:0002003)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|secretory granule (GO:0030141)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.I371F(1)		NS(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			TGACCTGGGCATCAAACACAC	0.403																																							uc003ewm.2		NA																	1	Substitution - Missense(1)		lung(1)	breast(1)|skin(1)	2						c.(1111-1113)ATC>TTC		carboxypeptidase A3 precursor							80.0	82.0	81.0					3																	148614351		2203	4299	6502	SO:0001583	missense	1359				proteolysis	stored secretory granule|transport vesicle	metallocarboxypeptidase activity|zinc ion binding	g.chr3:148614351A>T		CCDS3138.1	3q24	2012-02-10			ENSG00000163751	ENSG00000163751	3.4.17.1		2298	protein-coding gene	gene with protein product	"""mast cell carboxypeptidase A"", ""tissue carboxypeptidase A"""	114851					Standard	NM_001870		Approved		uc003ewm.3	P15088	OTTHUMG00000159526	ENST00000296046.3:c.1111A>T	3.37:g.148614351A>T	ENSP00000296046:p.Ile371Phe						p.I371F	NM_001870	NP_001861	P15088	CBPA3_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)		11	1163	+			371					Q96E94	Missense_Mutation	SNP	ENST00000296046.3	37	c.1111A>T	CCDS3138.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.066703	0.76301	.	.	ENSG00000163751	ENST00000296046	T	0.12361	2.69	5.52	5.52	0.82312	Peptidase M14, carboxypeptidase A (2);	0.060127	0.64402	D	0.000003	T	0.37046	0.0989	M	0.71296	2.17	0.46654	D	0.999146	D	0.89917	1.0	D	0.81914	0.995	T	0.14200	-1.0481	10	0.87932	D	0	.	14.6257	0.68618	1.0:0.0:0.0:0.0	.	371	P15088	CBPA3_HUMAN	F	371	ENSP00000296046:I371F	ENSP00000296046:I371F	I	+	1	0	CPA3	150097041	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.748000	0.62148	2.106000	0.64143	0.482000	0.46254	ATC		0.403	CPA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355974.1	NM_001870		24	97	0	0	0	0.007291	0	24	97				
IGSF10	285313	broad.mit.edu	37	3	151156246	151156246	+	Silent	SNP	G	G	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr3:151156246G>A	ENST00000282466.3	-	6	6102	c.6103C>T	c.(6103-6105)Ctg>Ttg	p.L2035L	IGSF10_ENST00000495443.1_5'UTR	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	2035					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)		p.L2035L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GCAGGTTTCAGTCTTAGGCTA	0.433																																							uc011bod.1		NA																	1	Substitution - coding silent(1)		lung(1)	skin(7)|ovary(5)|central_nervous_system(1)	13						c.(6103-6105)CTG>TTG		immunoglobulin superfamily, member 10 precursor							146.0	139.0	142.0					3																	151156246		2203	4300	6503	SO:0001819	synonymous_variant	285313				cell differentiation|multicellular organismal development|ossification	extracellular region		g.chr3:151156246G>A	AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"""Immunoglobulin superfamily / I-set domain containing"""	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.6103C>T	3.37:g.151156246G>A						IGSF10_uc011bob.1_Silent_p.L62L|IGSF10_uc011boc.1_Silent_p.L14L	p.L2035L	NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		6	6103	-			2035					Q86YJ9|Q8N772|Q8NA84	Silent	SNP	ENST00000282466.3	37	c.6103C>T	CCDS3160.1																																																																																				0.433	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357782.1	NM_178822		30	133	0	0	0	0.008361	0	30	133				
IGSF10	285313	broad.mit.edu	37	3	151162958	151162958	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr3:151162958G>T	ENST00000282466.3	-	4	4810	c.4811C>A	c.(4810-4812)aCc>aAc	p.T1604N		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	1604					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)		p.T1604N(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AACAAGAGTGGTGGCCTCGGA	0.428																																							uc011bod.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(7)|ovary(5)|central_nervous_system(1)	13						c.(4810-4812)ACC>AAC		immunoglobulin superfamily, member 10 precursor							200.0	180.0	187.0					3																	151162958		2203	4300	6503	SO:0001583	missense	285313				cell differentiation|multicellular organismal development|ossification	extracellular region		g.chr3:151162958G>T	AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"""Immunoglobulin superfamily / I-set domain containing"""	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.4811C>A	3.37:g.151162958G>T	ENSP00000282466:p.Thr1604Asn						p.T1604N	NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		4	4811	-			1604					Q86YJ9|Q8N772|Q8NA84	Missense_Mutation	SNP	ENST00000282466.3	37	c.4811C>A	CCDS3160.1	.	.	.	.	.	.	.	.	.	.	G	10.73	1.433994	0.25813	.	.	ENSG00000152580	ENST00000282466;ENST00000544042	T	0.69561	-0.41	5.76	-0.033	0.13902	.	0.625415	0.14088	N	0.342208	T	0.35508	0.0934	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.13710	-1.0499	10	0.14656	T	0.56	.	2.6691	0.05062	0.1608:0.125:0.473:0.2412	.	1604	Q6WRI0	IGS10_HUMAN	N	1604;231	ENSP00000282466:T1604N	ENSP00000282466:T1604N	T	-	2	0	IGSF10	152645648	0.000000	0.05858	0.001000	0.08648	0.022000	0.10575	0.102000	0.15272	0.043000	0.15746	0.650000	0.86243	ACC		0.428	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357782.1	NM_178822		31	148	1	0	7.11191e-15	0.002836	1.14283e-14	31	148				
IGSF10	285313	broad.mit.edu	37	3	151162966	151162966	+	Silent	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr3:151162966G>T	ENST00000282466.3	-	4	4802	c.4803C>A	c.(4801-4803)tcC>tcA	p.S1601S		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	1601					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)		p.S1601S(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TGGTGGCCTCGGACAGGCCTG	0.443																																							uc011bod.1		NA																	1	Substitution - coding silent(1)		lung(1)	skin(7)|ovary(5)|central_nervous_system(1)	13						c.(4801-4803)TCC>TCA		immunoglobulin superfamily, member 10 precursor							186.0	169.0	175.0					3																	151162966		2203	4300	6503	SO:0001819	synonymous_variant	285313				cell differentiation|multicellular organismal development|ossification	extracellular region		g.chr3:151162966G>T	AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"""Immunoglobulin superfamily / I-set domain containing"""	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.4803C>A	3.37:g.151162966G>T							p.S1601S	NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		4	4803	-			1601					Q86YJ9|Q8N772|Q8NA84	Silent	SNP	ENST00000282466.3	37	c.4803C>A	CCDS3160.1																																																																																				0.443	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357782.1	NM_178822		31	139	1	0	2.61193e-14	0.009535	4.15147e-14	31	139				
MME	4311	broad.mit.edu	37	3	154802043	154802044	+	Missense_Mutation	DNP	CA	CA	AG			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	CA	CA	-	-	CA	CA	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr3:154802043_154802044CA>AG	ENST00000460393.1	+	2	207_208	c.87_88CA>AG	c.(85-90)atCAgc>atAGgc	p.S30G	MME_ENST00000360490.2_Missense_Mutation_p.S30G|MME_ENST00000493237.1_Missense_Mutation_p.S30G|MME_ENST00000492661.1_Missense_Mutation_p.S30G|MME_ENST00000462745.1_Missense_Mutation_p.S30G|MME_ENST00000382989.3_Missense_Mutation_p.S30G	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	30					angiotensin maturation (GO:0002003)|beta-amyloid metabolic process (GO:0050435)|cellular protein metabolic process (GO:0044267)|cellular response to cytokine stimulus (GO:0071345)|cellular response to UV-A (GO:0071492)|cellular response to UV-B (GO:0071493)|creatinine metabolic process (GO:0046449)|kidney development (GO:0001822)|peptide metabolic process (GO:0006518)|proteolysis (GO:0006508)|replicative senescence (GO:0090399)|sensory perception of pain (GO:0019233)	axon (GO:0030424)|brush border (GO:0005903)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuron projection terminus (GO:0044306)|plasma membrane (GO:0005886)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)	endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)|zinc ion binding (GO:0008270)	p.S30G(1)		central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)|Liraglutide(DB06655)	CACTGGAGATCAGCCTCTCGGT	0.48																																							uc010hvr.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(85-90)ATCAGC>ATAGGC		membrane metallo-endopeptidase	Candoxatril(DB00616)																																			SO:0001583	missense	4311				cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	g.chr3:154802043_154802044CA>AG		CCDS3172.1	3q25.2	2012-01-31	2007-02-21		ENSG00000196549	ENSG00000196549	3.4.24.11	"""CD molecules"""	7154	protein-coding gene	gene with protein product	"""neutral endopeptidase"", ""enkephalinase"", ""neprilysin"""	120520					Standard	NM_007287		Approved	CALLA, CD10, NEP	uc003fad.1	P08473	OTTHUMG00000158455	Exception_encountered	3.37:g.154802043_154802044delinsAG	ENSP00000418525:p.Ser30Gly					MME_uc003fab.1_Missense_Mutation_p.S30G|MME_uc003fac.1_Missense_Mutation_p.S30G|MME_uc003fad.1_Missense_Mutation_p.S30G|MME_uc003fae.1_Missense_Mutation_p.S30G	p.S30G	NM_007289	NP_009220	P08473	NEP_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		2	298_299	+		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	30			Helical; Signal-anchor for type II membrane protein; (Potential).		A8K6U6|D3DNJ9|Q3MIX4	Missense_Mutation	DNP	ENST00000460393.1	37	c.87_88CA>AG	CCDS3172.1																																																																																				0.480	MME-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351076.1	NM_000902		43	115	0	0	0	0.004672	0	43	115				
MFSD1	64747	broad.mit.edu	37	3	158522150	158522150	+	Missense_Mutation	SNP	A	A	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr3:158522150A>T	ENST00000264266.8	+	2	268	c.206A>T	c.(205-207)cAa>cTa	p.Q69L	RP11-379F4.9_ENST00000607044.1_RNA|MFSD1_ENST00000415822.2_Missense_Mutation_p.Q118L|MFSD1_ENST00000392813.4_Nonsense_Mutation_p.K117*			Q9H3U5	MFSD1_HUMAN	major facilitator superfamily domain containing 1	69					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)		p.Q118L(1)|p.Q69L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	26			Lung(72;0.00372)|LUSC - Lung squamous cell carcinoma(72;0.00523)			CTTCAGACTCAAGTTAAACGA	0.368																																					Pancreas(62;1186 1654 36636 37908)	Pancreas(62;1186 1654 36636 37908)	uc003fcl.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(205-207)CAA>CTA		major facilitator superfamily domain containing							127.0	124.0	125.0					3																	158522150		2202	4300	6502	SO:0001583	missense	64747				transmembrane transport	integral to membrane		g.chr3:158522150A>T	BC017661	CCDS3185.1, CCDS3185.2, CCDS54666.1	3q25.32	2005-11-17			ENSG00000118855	ENSG00000118855			25874	protein-coding gene	gene with protein product							Standard	NM_022736		Approved	FLJ14153, UG0581B09	uc003fcl.2	Q9H3U5	OTTHUMG00000158835	ENST00000264266.8:c.206A>T	3.37:g.158522150A>T	ENSP00000264266:p.Gln69Leu					MFSD1_uc003fcm.1_RNA|MFSD1_uc003fcn.1_Nonsense_Mutation_p.K10*|MFSD1_uc011bow.1_Nonsense_Mutation_p.K68*|MFSD1_uc011box.1_5'UTR	p.Q69L	NM_022736	NP_073573	Q9H3U5	MFSD1_HUMAN	Lung(72;0.00372)|LUSC - Lung squamous cell carcinoma(72;0.00523)		2	236	+			69					B4DGJ8|B4DMR8|B4DU49|B4DWU1|C9JS94|J3KQL7|Q05C07|Q5XKJ1|Q8IVS1|Q8IXG4|Q9H7X1	Missense_Mutation	SNP	ENST00000264266.8	37	c.206A>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	36|36	5.808156|5.808156	0.96967|0.96967	.|.	.|.	ENSG00000118855|ENSG00000118855	ENST00000392813|ENST00000486568;ENST00000491804;ENST00000415822;ENST00000264266;ENST00000361159;ENST00000474670;ENST00000482835	.|T;T;T;T;T	.|0.79247	.|0.46;0.52;0.52;0.52;-1.25	5.86|5.86	5.86|5.86	0.93980|0.93980	.|Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	.|0.052845	.|0.85682	.|D	.|0.000000	.|T	.|0.75517	.|0.3860	M|M	0.71581|0.71581	2.175|2.175	0.58432|0.58432	D|D	0.999999|0.999999	.|B	.|0.10296	.|0.003	.|B	.|0.12837	.|0.008	.|T	.|0.70502	.|-0.4854	.|10	0.34782|0.13853	T|T	0.22|0.58	-10.5887|-10.5887	15.2364|15.2364	0.73436|0.73436	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|69	.|Q9H3U5	.|MFSD1_HUMAN	X|L	117|53;82;118;69;69;42;58	.|ENSP00000417414:Q53L;ENSP00000403117:Q118L;ENSP00000264266:Q69L;ENSP00000419708:Q42L;ENSP00000418503:Q58L	ENSP00000376560:K117X|ENSP00000264266:Q69L	K|Q	+|+	1|2	0|0	MFSD1|MFSD1	160004844|160004844	1.000000|1.000000	0.71417|0.71417	0.927000|0.927000	0.36925|0.36925	0.884000|0.884000	0.51177|0.51177	7.164000|7.164000	0.77533|0.77533	2.244000|2.244000	0.73946|0.73946	0.528000|0.528000	0.53228|0.53228	AAG|CAA		0.368	MFSD1-018	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470730.1	NM_022736		16	34	0	0	0	0.008871	0	16	34				
SI	6476	broad.mit.edu	37	3	164737500	164737500	+	Missense_Mutation	SNP	G	G	A	rs138397431	byFrequency	TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr3:164737500G>A	ENST00000264382.3	-	28	3375	c.3313C>T	c.(3313-3315)Cgc>Tgc	p.R1105C		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1105	Sucrase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)	p.R1105C(1)		NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	GATGGCAGGCGAGTCGATATT	0.383										HNSCC(35;0.089)																													uc003fei.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14						c.(3313-3315)CGC>TGC		sucrase-isomaltase	Acarbose(DB00284)	G	CYS/ARG	2,4404	4.2+/-10.8	0,2,2201	95.0	93.0	93.0		3313	3.6	0.8	3	dbSNP_134	93	0,8598		0,0,4299	no	missense	SI	NM_001041.3	180	0,2,6500	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging	1105/1828	164737500	2,13002	2203	4299	6502	SO:0001583	missense	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164737500G>A	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.3313C>T	3.37:g.164737500G>A	ENSP00000264382:p.Arg1105Cys	HNSCC(35;0.089)					p.R1105C	NM_001041	NP_001032	P14410	SUIS_HUMAN			28	3375	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	1105			Sucrase.|Lumenal.		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	c.3313C>T	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	G	16.35	3.098618	0.56183	4.54E-4	0.0	ENSG00000090402	ENST00000264382	D	0.86030	-2.06	4.46	3.59	0.41128	Glycoside hydrolase-type carbohydrate-binding (1);	0.345734	0.27720	N	0.018138	D	0.93164	0.7823	M	0.94142	3.5	0.40301	D	0.978609	D	0.89917	1.0	D	0.87578	0.998	D	0.92835	0.6283	10	0.87932	D	0	.	7.5537	0.27812	0.084:0.0:0.7523:0.1637	.	1105	P14410	SUIS_HUMAN	C	1105	ENSP00000264382:R1105C	ENSP00000264382:R1105C	R	-	1	0	SI	166220194	0.996000	0.38824	0.837000	0.33122	0.797000	0.45037	3.844000	0.55873	1.086000	0.41228	0.591000	0.81541	CGC		0.383	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		5	60	0	0	0	0.000602	0	5	60				
FNDC3B	64778	broad.mit.edu	37	3	172065095	172065095	+	Missense_Mutation	SNP	A	A	C			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr3:172065095A>C	ENST00000336824.4	+	21	2557	c.2458A>C	c.(2458-2460)Acc>Ccc	p.T820P	FNDC3B_ENST00000415807.2_Missense_Mutation_p.T820P|FNDC3B_ENST00000416957.1_Missense_Mutation_p.T820P	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	820	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell migration (GO:0016477)|negative regulation of osteoblast differentiation (GO:0045668)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of fibroblast proliferation (GO:0048146)|substrate adhesion-dependent cell spreading (GO:0034446)|Type II pneumocyte differentiation (GO:0060510)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)	p.T820P(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		TGGGACAGACACCCGTTTTGA	0.443																																							uc003fhy.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)	3						c.(2458-2460)ACC>CCC		fibronectin type III domain containing 3B							118.0	114.0	115.0					3																	172065095		2203	4300	6503	SO:0001583	missense	64778					endoplasmic reticulum|integral to membrane		g.chr3:172065095A>C	AF543840	CCDS3217.1	3q26.31	2013-11-06			ENSG00000075420	ENSG00000075420		"""Fibronectin type III domain containing"""	24670	protein-coding gene	gene with protein product		611909				15527760	Standard	NM_022763		Approved	FAD104, DKFZp762K137, FLJ23399, PRO4979, YVTM2421	uc003fhy.3	Q53EP0	OTTHUMG00000156761	ENST00000336824.4:c.2458A>C	3.37:g.172065095A>C	ENSP00000338523:p.Thr820Pro					FNDC3B_uc003fhz.3_Missense_Mutation_p.T820P	p.T820P	NM_022763	NP_073600	Q53EP0	FND3B_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)	21	2630	+	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		820			Fibronectin type-III 6.		B2RB36|B3KXR8|D3DNQ7|Q5U5T8|Q6PIJ3|Q6UXG1|Q6UXZ5|Q8IXB2|Q8NBU7|Q96D78|Q9H5I7|Q9NSQ8	Missense_Mutation	SNP	ENST00000336824.4	37	c.2458A>C	CCDS3217.1	.	.	.	.	.	.	.	.	.	.	A	11.18	1.563417	0.27915	.	.	ENSG00000075420	ENST00000415807;ENST00000336824;ENST00000416957	T;T;T	0.57907	0.37;0.37;0.37	6.03	2.25	0.28309	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.335476	0.38272	N	0.001757	T	0.51941	0.1704	M	0.85041	2.73	0.80722	D	1	B	0.12013	0.005	B	0.23852	0.049	T	0.40572	-0.9556	10	0.30854	T	0.27	-5.564	6.0435	0.19748	0.6089:0.2606:0.1305:0.0	.	820	Q53EP0	FND3B_HUMAN	P	820	ENSP00000411242:T820P;ENSP00000338523:T820P;ENSP00000389094:T820P	ENSP00000338523:T820P	T	+	1	0	FNDC3B	173547789	0.998000	0.40836	0.947000	0.38551	0.597000	0.36814	3.198000	0.51035	0.142000	0.18901	0.533000	0.62120	ACC		0.443	FNDC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345618.2	NM_022763		32	78	0	0	0	0.002445	0	32	78				
FNDC3B	64778	broad.mit.edu	37	3	172065099	172065099	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr3:172065099G>T	ENST00000336824.4	+	21	2561	c.2462G>T	c.(2461-2463)cGt>cTt	p.R821L	FNDC3B_ENST00000415807.2_Missense_Mutation_p.R821L|FNDC3B_ENST00000416957.1_Missense_Mutation_p.R821L	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	821	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell migration (GO:0016477)|negative regulation of osteoblast differentiation (GO:0045668)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of fibroblast proliferation (GO:0048146)|substrate adhesion-dependent cell spreading (GO:0034446)|Type II pneumocyte differentiation (GO:0060510)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)	p.R821L(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		ACAGACACCCGTTTTGAAATA	0.448																																							uc003fhy.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)	3						c.(2461-2463)CGT>CTT		fibronectin type III domain containing 3B							111.0	107.0	108.0					3																	172065099		2203	4300	6503	SO:0001583	missense	64778					endoplasmic reticulum|integral to membrane		g.chr3:172065099G>T	AF543840	CCDS3217.1	3q26.31	2013-11-06			ENSG00000075420	ENSG00000075420		"""Fibronectin type III domain containing"""	24670	protein-coding gene	gene with protein product		611909				15527760	Standard	NM_022763		Approved	FAD104, DKFZp762K137, FLJ23399, PRO4979, YVTM2421	uc003fhy.3	Q53EP0	OTTHUMG00000156761	ENST00000336824.4:c.2462G>T	3.37:g.172065099G>T	ENSP00000338523:p.Arg821Leu					FNDC3B_uc003fhz.3_Missense_Mutation_p.R821L	p.R821L	NM_022763	NP_073600	Q53EP0	FND3B_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)	21	2634	+	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		821			Fibronectin type-III 6.		B2RB36|B3KXR8|D3DNQ7|Q5U5T8|Q6PIJ3|Q6UXG1|Q6UXZ5|Q8IXB2|Q8NBU7|Q96D78|Q9H5I7|Q9NSQ8	Missense_Mutation	SNP	ENST00000336824.4	37	c.2462G>T	CCDS3217.1	.	.	.	.	.	.	.	.	.	.	G	11.31	1.599811	0.28534	.	.	ENSG00000075420	ENST00000415807;ENST00000336824;ENST00000416957	T;T;T	0.58506	0.33;0.33;0.33	6.03	4.24	0.50183	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.560738	0.23258	N	0.050168	T	0.35799	0.0944	N	0.13168	0.305	0.80722	D	1	B	0.06786	0.001	B	0.17433	0.018	T	0.12630	-1.0540	10	0.11794	T	0.64	-8.1066	9.6482	0.39881	0.1292:0.1159:0.7549:0.0	.	821	Q53EP0	FND3B_HUMAN	L	821	ENSP00000411242:R821L;ENSP00000338523:R821L;ENSP00000389094:R821L	ENSP00000338523:R821L	R	+	2	0	FNDC3B	173547793	1.000000	0.71417	0.997000	0.53966	0.571000	0.35966	4.935000	0.63498	1.564000	0.49628	-0.137000	0.14449	CGT		0.448	FNDC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345618.2	NM_022763		32	77	1	0	2.80507e-11	0.002445	4.07793e-11	32	77				
EIF4G1	1981	broad.mit.edu	37	3	184049277	184049277	+	Silent	SNP	G	G	C			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr3:184049277G>C	ENST00000346169.2	+	30	4549	c.4278G>C	c.(4276-4278)ctG>ctC	p.L1426L	EIF4G1_ENST00000342981.4_Silent_p.L1427L|EIF4G1_ENST00000382330.3_Silent_p.L1433L|EIF4G1_ENST00000319274.6_Silent_p.L1426L|EIF4G1_ENST00000427845.1_Silent_p.L1340L|EIF4G1_ENST00000350481.5_Silent_p.L1262L|EIF4G1_ENST00000352767.3_Silent_p.L1433L|EIF4G1_ENST00000424196.1_Silent_p.L1433L|EIF4G1_ENST00000441154.1_Silent_p.L1263L|EIF4G1_ENST00000414031.1_Silent_p.L1386L|EIF4G1_ENST00000392537.2_Silent_p.L1339L|EIF4G1_ENST00000434061.2_Silent_p.L1231L|EIF4G1_ENST00000411531.1_Silent_p.L1387L|EIF4G1_ENST00000435046.2_Silent_p.L1230L|EIF2B5_ENST00000444495.1_Intron	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	1426					cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|lung development (GO:0030324)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|response to ethanol (GO:0045471)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)	p.L1426L(1)		central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AGTATACCCTGGGAGAGGAGT	0.577																																							uc003fnp.2		NA																	1	Substitution - coding silent(1)		lung(1)	lung(2)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7						c.(4276-4278)CTG>CTC		eukaryotic translation initiation factor 4							94.0	110.0	105.0					3																	184049277		2202	4300	6502	SO:0001819	synonymous_variant	1981				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	g.chr3:184049277G>C	D12686	CCDS3259.1, CCDS3260.1, CCDS3261.1, CCDS46970.1, CCDS46970.2, CCDS54687.1, CCDS54688.1	3q27.1	2013-09-19			ENSG00000114867	ENSG00000114867		"""Parkinson disease"""	3296	protein-coding gene	gene with protein product		600495		EIF4G, EIF4F		1429670, 9372926, 21907011	Standard	NM_182917		Approved	p220, PARK18	uc010hxy.3	Q04637	OTTHUMG00000156784	ENST00000346169.2:c.4278G>C	3.37:g.184049277G>C						EIF4G1_uc003fnt.2_Silent_p.L1137L|EIF4G1_uc003fnq.2_Silent_p.L1339L|EIF4G1_uc003fnr.2_Silent_p.L1262L|EIF4G1_uc010hxx.2_Silent_p.L1433L|EIF4G1_uc003fns.2_Silent_p.L1386L|EIF4G1_uc010hxy.2_Silent_p.L1433L|EIF4G1_uc003fnv.3_Silent_p.L1427L|EIF4G1_uc003fnu.3_Silent_p.L1426L|EIF4G1_uc003fnw.2_Silent_p.L1433L|EIF4G1_uc003fnx.2_Silent_p.L1231L|EIF4G1_uc003fny.3_Silent_p.L1230L|EIF4G1_uc003foa.2_Silent_p.L98L	p.L1426L	NM_198241	NP_937884	Q04637	IF4G1_HUMAN	Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		30	4476	+	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		1426					D3DNT2|D3DNT4|D3DNT5|E9PFM1|G5E9S1|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	Silent	SNP	ENST00000346169.2	37	c.4278G>C	CCDS3259.1																																																																																				0.577	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000345733.1	NM_182917		6	236	0	0	0	0.001168	0	6	236				
ZNF595	152687	broad.mit.edu	37	4	59439	59439	+	Silent	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr4:59439G>T	ENST00000509152.2	+	2	305	c.120G>T	c.(118-120)ctG>ctT	p.L40L	ZNF595_ENST00000339368.6_3'UTR|ZNF595_ENST00000526473.2_Silent_p.L40L			Q8IYB9	ZN595_HUMAN	zinc finger protein 595	40	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.L40L(1)		endometrium(5)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)	20		all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173)		ACAGGAACCTGGTCTCCCTGG	0.443																																							uc003fzv.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(118-120)CTG>CTT		zinc finger protein 595							372.0	404.0	393.0					4																	59439		2203	4298	6501	SO:0001819	synonymous_variant	152687				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr4:59439G>T	BX537887	CCDS75075.1, CCDS75076.1, CCDS75077.1	4p16.3	2013-01-08				ENSG00000272602		"""Zinc fingers, C2H2-type"", ""-"""	27196	protein-coding gene	gene with protein product						12477932	Standard	NM_182524		Approved	FLJ31740		Q8IYB9		ENST00000509152.2:c.120G>T	4.37:g.59439G>T						ZNF595_uc003fzu.1_RNA|ZNF718_uc003fzt.3_Silent_p.L40L|ZNF595_uc010iay.1_RNA|ZNF595_uc011bus.1_5'UTR|ZNF595_uc011but.1_Intron	p.L40L	NM_182524	NP_872330	Q7Z3I0	Q7Z3I0_HUMAN		Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173)	2	276	+		all_cancers(4;0.0738)|all_epithelial(65;0.139)	40						Silent	SNP	ENST00000509152.2	37	c.120G>T																																																																																					0.443	ZNF595-004	PUTATIVE	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000357817.2	NM_182524		30	404	1	0	3.1745e-13	0.008361	4.90822e-13	30	404				
SH3BP2	6452	broad.mit.edu	37	4	2826407	2826407	+	Missense_Mutation	SNP	A	A	C			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr4:2826407A>C	ENST00000356331.5	+	4	568	c.307A>C	c.(307-309)Aag>Cag	p.K103Q	SH3BP2_ENST00000515183.1_3'UTR|SH3BP2_ENST00000452765.2_Missense_Mutation_p.K103Q|SH3BP2_ENST00000511747.1_Missense_Mutation_p.K103Q|SH3BP2_ENST00000442312.2_Missense_Mutation_p.K131Q|SH3BP2_ENST00000503393.2_Missense_Mutation_p.K160Q|SH3BP2_ENST00000435136.2_Missense_Mutation_p.K103Q	NM_003023.4	NP_003014.3	P78314	3BP2_HUMAN	SH3-domain binding protein 2	103	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)		SH3/SH2 adaptor activity (GO:0005070)	p.K103Q(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	20				UCEC - Uterine corpus endometrioid carcinoma (64;0.164)		CCATATCAGCAAGAAGCACCG	0.637									Cherubism																														uc003gfi.3		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(307-309)AAG>CAG		SH3-domain binding protein 2 isoform a							96.0	89.0	91.0					4																	2826407		2203	4300	6503	SO:0001583	missense	6452	Cherubism	Familial Cancer Database	Familial Benign Giant-cell Tumor of the Jaw, Familial Multilocular Cystic Disease	signal transduction		SH3 domain binding|SH3/SH2 adaptor activity	g.chr4:2826407A>C	BC022996	CCDS33944.1, CCDS54715.1, CCDS54716.1	4p16.3	2013-02-14				ENSG00000087266		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	10825	protein-coding gene	gene with protein product		602104	"""Cherubism"""			9299232, 11381256	Standard	NM_003023		Approved	RES4-23, CRBM	uc003gfj.4	P78314		ENST00000356331.5:c.307A>C	4.37:g.2826407A>C	ENSP00000348685:p.Lys103Gln					SH3BP2_uc010icn.2_Missense_Mutation_p.K103Q|SH3BP2_uc011bvp.1_Missense_Mutation_p.K131Q|SH3BP2_uc003gfj.3_Missense_Mutation_p.K160Q|SH3BP2_uc003gfk.3_Missense_Mutation_p.K103Q|SH3BP2_uc003gfl.3_Missense_Mutation_p.K36Q|SH3BP2_uc003gfm.3_5'Flank	p.K103Q	NM_001122681	NP_001116153	P78314	3BP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.164)	4	427	+			103			PH.		A6NNC2|B2R5R6|B4DT04|D3DVR0|D6R919|O00500|O15373|P78315	Missense_Mutation	SNP	ENST00000356331.5	37	c.307A>C	CCDS33944.1	.	.	.	.	.	.	.	.	.	.	a	19.93	3.918649	0.73098	.	.	ENSG00000087266	ENST00000452765;ENST00000503219;ENST00000504294;ENST00000508385;ENST00000512014;ENST00000513095;ENST00000442312;ENST00000502260;ENST00000435136;ENST00000511747;ENST00000503393;ENST00000356331	T;T;T;T;T;T;T;T;T;T;T;T	0.12672	2.66;2.66;2.66;2.66;2.66;2.66;2.66;2.66;2.66;2.66;2.66;2.66	4.86	4.86	0.63082	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.102768	0.64402	D	0.000004	T	0.27489	0.0675	L	0.39397	1.21	0.80722	D	1	P;D;P;P	0.76494	0.878;0.999;0.924;0.484	P;D;P;P	0.70935	0.745;0.971;0.543;0.536	T	0.01192	-1.1423	10	0.49607	T	0.09	-8.4673	14.1544	0.65407	1.0:0.0:0.0:0.0	.	131;131;160;103	B4DT04;B7Z9B6;D6R919;P78314	.;.;.;3BP2_HUMAN	Q	103;103;103;103;103;103;131;103;103;103;160;103	ENSP00000409746:K103Q;ENSP00000422796:K103Q;ENSP00000423275:K103Q;ENSP00000424917:K103Q;ENSP00000424105:K103Q;ENSP00000423823:K103Q;ENSP00000388152:K131Q;ENSP00000425537:K103Q;ENSP00000403231:K103Q;ENSP00000424846:K103Q;ENSP00000422168:K160Q;ENSP00000348685:K103Q	ENSP00000348685:K103Q	K	+	1	0	SH3BP2	2796205	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.414000	0.90238	1.837000	0.53436	0.525000	0.51046	AAG		0.637	SH3BP2-007	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000362406.2	NM_003023		34	55	0	0	0	0.00623	0	34	55				
TRMT44	152992	broad.mit.edu	37	4	8467229	8467229	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr4:8467229G>T	ENST00000389737.4	+	8	1435	c.1435G>T	c.(1435-1437)Ggc>Tgc	p.G479C	TRMT44_ENST00000513449.2_Missense_Mutation_p.G238C	NM_152544.2	NP_689757.2	Q8IYL2	TRM44_HUMAN	tRNA methyltransferase 44 homolog (S. cerevisiae)	479					tRNA processing (GO:0008033)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)	p.G87C(1)|p.G479C(1)									TAAAGAAGTGGGCTTCACCTG	0.488																																							uc003glg.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(748-750)GGC>TGC		hypothetical protein LOC152992 isoform 2							110.0	109.0	109.0					4																	8467229		2203	4300	6503	SO:0001583	missense	152992				tRNA processing	cytoplasm	methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr4:8467229G>T	AK093044	CCDS3402.1, CCDS3402.2	4p16.1	2012-06-12	2012-06-12	2012-06-12	ENSG00000155275	ENSG00000155275			26653	protein-coding gene	gene with protein product	"""tRNA methyltransferase 44 homolog (S. cerevisiae)"""	614309	"""chromosome 4 open reading frame 23"", ""methyltransferase like 19"""	C4orf23, METTL19		21658913	Standard	NM_152544		Approved	FLJ35725, TRM44	uc003glg.2	Q8IYL2	OTTHUMG00000160935	ENST00000389737.4:c.1435G>T	4.37:g.8467229G>T	ENSP00000374387:p.Gly479Cys					C4orf23_uc003glf.1_Missense_Mutation_p.G238C|C4orf23_uc003glh.1_Missense_Mutation_p.G87C	p.G250C	NM_152544	NP_689757	Q8IYL2	TRM44_HUMAN			8	936	+			479					Q8NA95	Missense_Mutation	SNP	ENST00000389737.4	37	c.748G>T	CCDS3402.2	.	.	.	.	.	.	.	.	.	.	G	11.10	1.539516	0.27563	.	.	ENSG00000155275	ENST00000513449;ENST00000389737;ENST00000285635	T;T	0.46063	0.88;0.88	4.62	4.62	0.57501	.	0.116020	0.64402	D	0.000013	T	0.40743	0.1129	L	0.42744	1.35	0.45837	D	0.998707	B;B	0.33212	0.402;0.284	B;B	0.34722	0.17;0.188	T	0.46938	-0.9155	10	0.87932	D	0	-40.123	17.6544	0.88174	0.0:0.0:1.0:0.0	.	479;238	Q8IYL2;Q8IYL2-2	TRM44_HUMAN;.	C	238;479;87	ENSP00000424643:G238C;ENSP00000374387:G479C	ENSP00000285635:G87C	G	+	1	0	METTL19	8518129	1.000000	0.71417	0.994000	0.49952	0.598000	0.36846	4.962000	0.63687	2.370000	0.80446	0.650000	0.86243	GGC		0.488	TRMT44-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000359197.2	NM_152544		38	57	1	0	3.66854e-30	0.007835	6.80445e-30	38	57				
GBA3	57733	broad.mit.edu	37	4	22749027	22749027	+	RNA	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr4:22749027G>T	ENST00000503442.1	+	0	377				GBA3_ENST00000508166.1_RNA|GBA3_ENST00000511446.2_RNA	NM_001128432.2	NP_001121904.1	Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)						carbohydrate metabolic process (GO:0005975)|glycoside catabolic process (GO:0016139)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide catabolic process (GO:0046477)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytosol (GO:0005829)	beta-galactosidase activity (GO:0004565)|beta-glucosidase activity (GO:0008422)|glycosylceramidase activity (GO:0017042)	p.G132V(1)		breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						GACCAAGGAGGTTGGTTGTCA	0.403																																							uc003gqp.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(394-396)GGT>GTT		cytosolic beta-glucosidase isoform a							143.0	142.0	142.0					4																	22749027		1860	4093	5953			57733				glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity	g.chr4:22749027G>T	AB017913		4p15.2	2013-05-09	2013-05-09		ENSG00000249948	ENSG00000249948	3.2.1.21		19069	protein-coding gene	gene with protein product	"""klotho-related protein"""	606619	"""glucosidase, beta, acid 3 (cytosolic)"""			11389701	Standard	NM_020973		Approved	GLUC, KLrP	uc031sdv.1	Q9H227	OTTHUMG00000160448		4.37:g.22749027G>T						GBA3_uc010iep.2_Intron|GBA3_uc011bxo.1_Missense_Mutation_p.G133V	p.G132V	NM_020973	NP_066024	Q9H227	GBA3_HUMAN			3	486	+			132					Q32LY7|Q3MIH4|Q53GG8|Q6NSF4|Q8NHT8|Q9H3T4|Q9H4C6	Missense_Mutation	SNP	ENST00000503442.1	37	c.395G>T																																																																																					0.403	GBA3-003	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000360620.2			64	107	1	0	1.22119e-34	0.00361	2.30269e-34	64	107				
SLC34A2	10568	broad.mit.edu	37	4	25675965	25675965	+	Missense_Mutation	SNP	G	G	T	rs116219115	byFrequency	TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr4:25675965G>T	ENST00000382051.3	+	11	1314	c.1264G>T	c.(1264-1266)Gtc>Ttc	p.V422F	SLC34A2_ENST00000504570.1_Missense_Mutation_p.V421F|SLC34A2_ENST00000503434.1_Missense_Mutation_p.V421F	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	422					aging (GO:0007568)|cellular phosphate ion homeostasis (GO:0030643)|in utero embryonic development (GO:0001701)|ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|response to estradiol (GO:0032355)|response to estrogen (GO:0043627)|response to fructose (GO:0009750)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	phosphate ion binding (GO:0042301)|sodium ion binding (GO:0031402)|sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:phosphate symporter activity (GO:0005436)	p.V422F(1)	SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				GGCCATCCTCGTCGGGGCAGG	0.577			T	ROS1	NSCLC																																		uc003grr.2		NA		Dom	yes		4	4p15.2	10568		"""solute carrier family 34 (sodium phosphate), member 2"""			E					1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(1)|kidney(1)	5						c.(1264-1266)GTC>TTC		solute carrier family 34 (sodium phosphate),							185.0	144.0	158.0					4																	25675965		2203	4300	6503	SO:0001583	missense	10568				cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity	g.chr4:25675965G>T	AF111856	CCDS3435.1, CCDS54750.1	4p15.2	2013-07-17	2013-07-17		ENSG00000157765	ENSG00000157765		"""Solute carriers"""	11020	protein-coding gene	gene with protein product		604217	"""solute carrier family 34 (sodium phosphate), member 2"""			10329428, 10610722	Standard	NM_006424		Approved	NAPI-3B	uc003grr.3	O95436	OTTHUMG00000097757	ENST00000382051.3:c.1264G>T	4.37:g.25675965G>T	ENSP00000371483:p.Val422Phe					SLC34A2_uc003grs.2_Missense_Mutation_p.V421F|SLC34A2_uc010iev.2_Missense_Mutation_p.V421F	p.V422F	NM_006424	NP_006415	O95436	NPT2B_HUMAN			11	1345	+		Breast(46;0.0503)	422			Helical; Name=M5; (Potential).		A5PL17|Q8N2K2|Q8WYA9|Q9P0V7	Missense_Mutation	SNP	ENST00000382051.3	37	c.1264G>T	CCDS3435.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.426075	0.83667	.	.	ENSG00000157765	ENST00000504570;ENST00000382051;ENST00000503434	D;D;D	0.86562	-2.14;-2.14;-2.14	5.2	5.2	0.72013	.	0.058798	0.64402	D	0.000003	D	0.93184	0.7829	M	0.75884	2.315	0.80722	D	1	D;P	0.64830	0.994;0.816	D;P	0.68192	0.956;0.614	D	0.93632	0.6957	10	0.72032	D	0.01	-21.6672	19.0968	0.93255	0.0:0.0:1.0:0.0	.	421;422	O95436-2;O95436	.;NPT2B_HUMAN	F	421;422;421	ENSP00000425501:V421F;ENSP00000371483:V422F;ENSP00000423021:V421F	ENSP00000371483:V422F	V	+	1	0	SLC34A2	25285063	1.000000	0.71417	0.845000	0.33349	0.638000	0.38207	9.869000	0.99810	2.596000	0.87737	0.561000	0.74099	GTC		0.577	SLC34A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214990.1	NM_006424		29	58	1	0	8.88839e-20	0.002096	1.53705e-19	29	58				
CCKAR	886	broad.mit.edu	37	4	26483736	26483736	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr4:26483736G>T	ENST00000295589.3	-	5	1005	c.811C>A	c.(811-813)Ctg>Atg	p.L271M		NM_000730.2	NP_000721.1	P32238	CCKAR_HUMAN	cholecystokinin A receptor	271					axonogenesis (GO:0007409)|cholecystokinin signaling pathway (GO:0038188)|digestion (GO:0007586)|feeding behavior (GO:0007631)|forebrain development (GO:0030900)|neuron migration (GO:0001764)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|response to nutrient (GO:0007584)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cholecystokinin receptor activity (GO:0004951)	p.L271M(2)		NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29		Breast(46;0.0503)			Ceruletide(DB00403)	GTCTTTTGCAGGTAACACCCA	0.602																																							uc003gse.1		NA																	2	Substitution - Missense(2)		lung(2)	lung(3)|pancreas(1)	4						c.(811-813)CTG>ATG		cholecystokinin A receptor	Ceruletide(DB00403)						73.0	77.0	76.0					4																	26483736		2203	4300	6503	SO:0001583	missense	886				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient	integral to plasma membrane	cholecystokinin receptor activity	g.chr4:26483736G>T	L19315	CCDS3438.1	4p15.2	2013-09-20			ENSG00000163394	ENSG00000163394		"""GPCR / Class A : Cholecystokinin receptors"""	1570	protein-coding gene	gene with protein product		118444					Standard	NM_000730		Approved		uc003gse.1	P32238	OTTHUMG00000128567	ENST00000295589.3:c.811C>A	4.37:g.26483736G>T	ENSP00000295589:p.Leu271Met						p.L271M	NM_000730	NP_000721	P32238	CCKAR_HUMAN			5	964	-		Breast(46;0.0503)	271			Cytoplasmic (Potential).		B2R9Z5	Missense_Mutation	SNP	ENST00000295589.3	37	c.811C>A	CCDS3438.1	.	.	.	.	.	.	.	.	.	.	G	12.94	2.088900	0.36855	.	.	ENSG00000163394	ENST00000295589	T	0.54071	0.59	5.22	3.45	0.39498	GPCR, rhodopsin-like superfamily (1);	0.070970	0.64402	D	0.000019	T	0.64114	0.2569	L	0.60455	1.87	0.41573	D	0.988696	D	0.71674	0.998	D	0.75020	0.985	T	0.60005	-0.7347	10	0.33141	T	0.24	.	10.2393	0.43301	0.0743:0.1371:0.7887:0.0	.	271	P32238	CCKAR_HUMAN	M	271	ENSP00000295589:L271M	ENSP00000295589:L271M	L	-	1	2	CCKAR	26092834	1.000000	0.71417	0.998000	0.56505	0.040000	0.13550	1.189000	0.32114	0.566000	0.29273	0.462000	0.41574	CTG		0.602	CCKAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250418.2			30	106	1	0	7.11191e-15	0.002836	1.14283e-14	30	106				
GRXCR1	389207	broad.mit.edu	37	4	42895638	42895638	+	Silent	SNP	C	C	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr4:42895638C>T	ENST00000399770.2	+	1	355	c.355C>T	c.(355-357)Cta>Tta	p.L119L	RN7SKP82_ENST00000516786.1_RNA	NM_001080476.2	NP_001073945.1	A8MXD5	GRCR1_HUMAN	glutaredoxin, cysteine rich 1	119					auditory receptor cell differentiation (GO:0042491)|cell redox homeostasis (GO:0045454)|inner ear receptor cell development (GO:0060119)|inner ear receptor stereocilium organization (GO:0060122)|negative regulation of phosphatase activity (GO:0010923)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of sound (GO:0007605)|vestibular receptor cell development (GO:0060118)	kinocilium (GO:0060091)|stereocilium (GO:0032420)	electron carrier activity (GO:0009055)|protein disulfide oxidoreductase activity (GO:0015035)	p.L119L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						TGGCCAGGCTCTATTTAACAA	0.433																																							uc003gwt.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(355-357)CTA>TTA		glutaredoxin, cysteine rich 1							103.0	103.0	103.0					4																	42895638		1937	4139	6076	SO:0001819	synonymous_variant	389207				cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development	kinocilium|stereocilium	electron carrier activity|protein disulfide oxidoreductase activity	g.chr4:42895638C>T		CCDS43225.1	4p14	2014-06-12			ENSG00000215203	ENSG00000215203			31673	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 88"""	613283	"""deafness, autosomal recessive 25"""	DFNB25		20137778	Standard	NM_001080476		Approved	PPP1R88	uc003gwt.3	A8MXD5	OTTHUMG00000160434	ENST00000399770.2:c.355C>T	4.37:g.42895638C>T							p.L119L	NM_001080476	NP_001073945	A8MXD5	GRCR1_HUMAN			1	355	+			119						Silent	SNP	ENST00000399770.2	37	c.355C>T	CCDS43225.1																																																																																				0.433	GRXCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360576.1	NM_001080476		73	90	0	0	0	0.00361	0	73	90				
GABRA2	2555	broad.mit.edu	37	4	46252334	46252334	+	Silent	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr4:46252334G>T	ENST00000510861.1	-	10	1520	c.1347C>A	c.(1345-1347)gtC>gtA	p.V449V	GABRA2_ENST00000540012.1_Silent_p.V454V|GABRA2_ENST00000356504.1_Silent_p.V449V|GABRA2_ENST00000381620.4_Silent_p.V449V|GABRA2_ENST00000514090.1_Silent_p.V449V|GABRA2_ENST00000507069.1_Silent_p.V509V			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	449					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|neurotransmitter transport (GO:0006836)|regulation of neurotransmitter levels (GO:0001505)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of synaptic vesicle membrane (GO:0030285)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.V449V(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zolpidem(DB00425)|Zopiclone(DB01198)	TTCAAGGACTGACCCCTAATA	0.338																																							uc003gxc.3		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(2)	4						c.(1345-1347)GTC>GTA		gamma-aminobutyric acid A receptor, alpha 2	Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						74.0	79.0	77.0					4																	46252334		2202	4294	6496	SO:0001819	synonymous_variant	2555				gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr4:46252334G>T		CCDS3471.1	4p12	2012-06-22			ENSG00000151834	ENSG00000151834		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4076	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 2"""	137140					Standard	NM_000807		Approved		uc010igc.2	P47869	OTTHUMG00000044266	ENST00000510861.1:c.1347C>A	4.37:g.46252334G>T						GABRA2_uc010igc.2_Silent_p.V449V|GABRA2_uc011bzc.1_Silent_p.V454V	p.V449V	NM_001114175	NP_001107647	P47869	GBRA2_HUMAN			9	2020	-			449					A8K0U7|B7Z1H8|Q59G14	Silent	SNP	ENST00000510861.1	37	c.1347C>A	CCDS3471.1																																																																																				0.338	GABRA2-005	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360848.2			8	60	1	0	0.00448238	0.004482	0.00478183	8	60				
ATP10D	57205	broad.mit.edu	37	4	47556860	47556860	+	Missense_Mutation	SNP	A	A	G			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr4:47556860A>G	ENST00000273859.3	+	11	2022	c.1753A>G	c.(1753-1755)Atc>Gtc	p.I585V	AC092597.3_ENST00000508081.1_RNA	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	585					cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.I585V(1)		NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						TTTGTACATTATCGACTTTTT	0.413																																							uc003gxk.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(1753-1755)ATC>GTC		ATPase, class V, type 10D							117.0	116.0	117.0					4																	47556860		2203	4300	6503	SO:0001583	missense	57205				ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr4:47556860A>G	AB040920	CCDS3476.1	4p12	2010-04-20	2007-09-19		ENSG00000145246	ENSG00000145246		"""ATPases / P-type"""	13549	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10D"""			12532265	Standard	NM_020453		Approved	ATPVD, KIAA1487	uc003gxk.1	Q9P241	OTTHUMG00000160784	ENST00000273859.3:c.1753A>G	4.37:g.47556860A>G	ENSP00000273859:p.Ile585Val					ATP10D_uc003gxl.1_Intron	p.I585V	NM_020453	NP_065186	Q9P241	AT10D_HUMAN			11	1917	+			585			Cytoplasmic (Potential).		A2RRC8|D6REN2|Q8NC70|Q96SR3	Missense_Mutation	SNP	ENST00000273859.3	37	c.1753A>G	CCDS3476.1	.	.	.	.	.	.	.	.	.	.	A	0.037	-1.300060	0.01364	.	.	ENSG00000145246	ENST00000273859	T	0.63417	-0.04	5.19	-1.41	0.08941	HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.707951	0.12962	N	0.424940	T	0.41581	0.1165	N	0.21373	0.66	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.24440	-1.0160	10	0.16420	T	0.52	-2.8334	10.2996	0.43644	0.5507:0.0:0.4493:0.0	.	585	Q9P241	AT10D_HUMAN	V	585	ENSP00000273859:I585V	ENSP00000273859:I585V	I	+	1	0	ATP10D	47251617	0.002000	0.14202	0.075000	0.20258	0.015000	0.08874	0.154000	0.16343	-0.159000	0.11021	-1.151000	0.01829	ATC		0.413	ATP10D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216900.1	NM_020453		6	131	0	0	0	0.001984	0	6	131				
ATP10D	57205	broad.mit.edu	37	4	47559954	47559954	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr4:47559954G>C	ENST00000273859.3	+	12	2367	c.2098G>C	c.(2098-2100)Ggt>Cgt	p.G700R	AC092597.3_ENST00000508081.1_RNA	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	700					cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.G700R(1)		NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						GAAACAACACGGTGATGCAGG	0.582																																							uc003gxk.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(2098-2100)GGT>CGT		ATPase, class V, type 10D							64.0	60.0	62.0					4																	47559954		2203	4300	6503	SO:0001583	missense	57205				ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr4:47559954G>C	AB040920	CCDS3476.1	4p12	2010-04-20	2007-09-19		ENSG00000145246	ENSG00000145246		"""ATPases / P-type"""	13549	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10D"""			12532265	Standard	NM_020453		Approved	ATPVD, KIAA1487	uc003gxk.1	Q9P241	OTTHUMG00000160784	ENST00000273859.3:c.2098G>C	4.37:g.47559954G>C	ENSP00000273859:p.Gly700Arg					ATP10D_uc003gxl.1_Intron	p.G700R	NM_020453	NP_065186	Q9P241	AT10D_HUMAN			12	2262	+			700			Cytoplasmic (Potential).		A2RRC8|D6REN2|Q8NC70|Q96SR3	Missense_Mutation	SNP	ENST00000273859.3	37	c.2098G>C	CCDS3476.1	.	.	.	.	.	.	.	.	.	.	G	9.761	1.169996	0.21621	.	.	ENSG00000145246	ENST00000273859	T	0.37752	1.18	5.24	-10.3	0.00346	HAD-like domain (1);	1.331280	0.04100	N	0.312672	T	0.11665	0.0284	N	0.02011	-0.69	0.09310	N	0.999999	B	0.09022	0.002	B	0.13407	0.009	T	0.19095	-1.0316	10	0.15952	T	0.53	0.0	9.7995	0.40755	0.3267:0.0:0.5017:0.1716	.	700	Q9P241	AT10D_HUMAN	R	700	ENSP00000273859:G700R	ENSP00000273859:G700R	G	+	1	0	ATP10D	47254711	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.605000	0.05661	-1.779000	0.01280	-0.415000	0.06103	GGT		0.582	ATP10D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216900.1	NM_020453		29	33	0	0	0	0.00632	0	29	33				
LNX1	84708	broad.mit.edu	37	4	54439849	54439849	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr4:54439849G>C	ENST00000263925.7	-	2	635	c.321C>G	c.(319-321)ttC>ttG	p.F107L	LNX1_ENST00000504605.1_5'Flank|FIP1L1_ENST00000507166.1_Intron	NM_001126328.2	NP_001119800.1	Q8TBB1	LNX1_HUMAN	ligand of numb-protein X 1, E3 ubiquitin protein ligase	107					protein homooligomerization (GO:0051260)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.F107L(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|endometrium(3)|large_intestine(11)|lung(6)|ovary(3)|urinary_tract(4)	32	all_neural(26;0.153)		GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134)			AGTGCTCCCTGAATGGGCAGG	0.577																																							uc003hag.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(2)	4						c.(319-321)TTC>TTG		ligand of numb-protein X 1 isoform a							49.0	42.0	44.0					4																	54439849		1568	3582	5150	SO:0001583	missense	84708					cytoplasm	zinc ion binding	g.chr4:54439849G>C	AF237782	CCDS3492.1, CCDS47057.1	4q12	2013-01-09	2012-02-23	2005-11-04	ENSG00000072201	ENSG00000072201		"""RING-type (C3HC4) zinc fingers"""	6657	protein-coding gene	gene with protein product		609732	"""ligand of numb-protein X"", ""ligand of numb-protein X 1"""	LNX		11521506, 11782429	Standard	NM_032622		Approved	MPDZ, PDZRN2	uc003hag.5	Q8TBB1	OTTHUMG00000102099	ENST00000263925.7:c.321C>G	4.37:g.54439849G>C	ENSP00000263925:p.Phe107Leu					PDGFRA_uc003haa.2_Intron|LNX1_uc003hah.3_RNA	p.F107L	NM_001126328	NP_001119800	Q8TBB1	LNX1_HUMAN	GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134)		2	577	-	all_neural(26;0.153)		107					Q4W5K7|Q8N4C2|Q96MJ7|Q9BY20	Missense_Mutation	SNP	ENST00000263925.7	37	c.321C>G	CCDS47057.1	.	.	.	.	.	.	.	.	.	.	G	10.18	1.279867	0.23392	.	.	ENSG00000072201	ENST00000263925;ENST00000513421	T;T	0.11604	4.44;2.76	5.81	3.17	0.36434	.	0.093131	0.85682	D	0.000000	T	0.26231	0.0640	M	0.61703	1.905	0.50313	D	0.999868	D	0.69078	0.997	D	0.75020	0.985	T	0.00353	-1.1795	10	0.25751	T	0.34	.	12.4798	0.55836	0.2287:0.0:0.7713:0.0	.	107	Q8TBB1	LNX1_HUMAN	L	107	ENSP00000263925:F107L;ENSP00000426445:F107L	ENSP00000263925:F107L	F	-	3	2	LNX1	54134606	1.000000	0.71417	0.016000	0.15963	0.003000	0.03518	3.602000	0.54066	0.116000	0.18110	-1.583000	0.00853	TTC		0.577	LNX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219934.2			4	7	0	0	0	0.001168	0	4	7				
KDR	3791	broad.mit.edu	37	4	55981512	55981512	+	Missense_Mutation	SNP	T	T	C			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr4:55981512T>C	ENST00000263923.4	-	4	720	c.425A>G	c.(424-426)aAa>aGa	p.K142R		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	142	Ig-like C2-type 2.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion homeostasis (GO:0055074)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic hemopoiesis (GO:0035162)|endothelial cell differentiation (GO:0045446)|endothelium development (GO:0003158)|extracellular matrix organization (GO:0030198)|lung alveolus development (GO:0048286)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vasculogenesis (GO:2001214)|protein autophosphorylation (GO:0046777)|regulation of cell shape (GO:0008360)|signal transduction by phosphorylation (GO:0023014)|surfactant homeostasis (GO:0043129)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sorting endosome (GO:0097443)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|Hsp90 protein binding (GO:0051879)|integrin binding (GO:0005178)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.K142R(1)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Axitinib(DB06626)|Cabozantinib(DB08875)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	AGTTTTGTTTTTGTTCTCAGT	0.358			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)																													uc003has.2		NA		Dom	yes		4	4q11-q12	3791	Mis	vascular endothelial growth factor receptor 2			E			NSCLC|angiosarcoma		1	Substitution - Missense(1)		lung(1)	lung(16)|soft_tissue(4)|central_nervous_system(4)|large_intestine(2)|stomach(2)|skin(2)|ovary(2)|kidney(1)	33						c.(424-426)AAA>AGA		kinase insert domain receptor precursor	Sorafenib(DB00398)|Sunitinib(DB01268)						107.0	100.0	103.0					4																	55981512		2203	4300	6503	SO:0001583	missense	3791	Familial_Infantile_Hemangioma			angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity	g.chr4:55981512T>C	AF035121	CCDS3497.1	4q11-q12	2013-01-29			ENSG00000128052	ENSG00000128052	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6307	protein-coding gene	gene with protein product		191306				1417831	Standard	NM_002253		Approved	FLK1, VEGFR, VEGFR2, CD309	uc003has.3	P35968	OTTHUMG00000128734	ENST00000263923.4:c.425A>G	4.37:g.55981512T>C	ENSP00000263923:p.Lys142Arg	TSP Lung(20;0.16)				KDR_uc003hat.1_Missense_Mutation_p.K142R|KDR_uc011bzx.1_Missense_Mutation_p.K142R	p.K142R	NM_002253	NP_002244	P35968	VGFR2_HUMAN	Epithelial(7;0.189)		4	727	-	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		142			Ig-like C2-type 2.|Extracellular (Potential).		A2RRS0|B5A925|C5IFA0|O60723|Q14178	Missense_Mutation	SNP	ENST00000263923.4	37	c.425A>G	CCDS3497.1	.	.	.	.	.	.	.	.	.	.	T	14.77	2.633341	0.47049	.	.	ENSG00000128052	ENST00000263923	T	0.29917	1.55	5.75	5.75	0.90469	Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000005	T	0.22475	0.0542	L	0.27053	0.805	0.43107	D	0.994801	P;P	0.44627	0.701;0.839	B;B	0.40901	0.343;0.218	T	0.04481	-1.0948	10	0.13470	T	0.59	.	14.622	0.68594	0.0:0.0:0.0:1.0	.	142;142	P35968-2;P35968	.;VGFR2_HUMAN	R	142	ENSP00000263923:K142R	ENSP00000263923:K142R	K	-	2	0	KDR	55676269	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.606000	0.61126	2.187000	0.69744	0.533000	0.62120	AAA		0.358	KDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250645.1			18	27	0	0	0	0.008871	0	18	27				
TMPRSS11F	389208	broad.mit.edu	37	4	68964603	68964603	+	Splice_Site	SNP	A	A	G			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr4:68964603A>G	ENST00000356291.2	-	2	223		c.e2+1			NM_207407.2	NP_997290.2	Q6ZWK6	TM11F_HUMAN	transmembrane protease, serine 11F							extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)	p.?(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4)	39						CTGGATACTTACCCTCAACAA	0.353																																							uc003hdt.1		NA																	1	Unknown(1)		lung(1)	ovary(1)	1						c.e2+1		transmembrane protease, serine 11F							146.0	125.0	132.0					4																	68964603		2203	4300	6503	SO:0001630	splice_region_variant	389208				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	g.chr4:68964603A>G	AK122625	CCDS3520.1	4q13.2	2010-04-13			ENSG00000198092	ENSG00000198092		"""Serine peptidases / Transmembrane"""	29994	protein-coding gene	gene with protein product							Standard	NM_207407		Approved	FLJ16046	uc003hdt.1	Q6ZWK6	OTTHUMG00000129307	ENST00000356291.2:c.163+1T>C	4.37:g.68964603A>G							p.D55_splice	NM_207407	NP_997290	Q6ZWK6	TM11F_HUMAN			2	212	-								A8MXX2	Splice_Site	SNP	ENST00000356291.2	37	c.163_splice	CCDS3520.1	.	.	.	.	.	.	.	.	.	.	A	16.51	3.144621	0.57044	.	.	ENSG00000198092	ENST00000356291	.	.	.	5.3	5.3	0.74995	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.624	0.51134	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TMPRSS11F	68647198	1.000000	0.71417	1.000000	0.80357	0.733000	0.41908	4.118000	0.57884	2.020000	0.59435	0.477000	0.44152	.		0.353	TMPRSS11F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251439.1	NM_207407	Intron	34	50	0	0	0	0.003755	0	34	50				
UGT2B27P	54569	broad.mit.edu	37	4	69885521	69885521	+	IGR	SNP	T	T	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr4:69885521T>A								UGT2A3 (68012 upstream) : UGT2B7 (31672 downstream)																							TAACAACAGGTACGTAGGAAG	0.383																																						Melanoma(133;755 1763 25578 26334 46021)	uc011cao.1		NA																	0				skin(3)|ovary(2)	5						c.(466-468)GTA>GTT		RecName: Full=UDP-glucuronosyltransferase 2B28;          Short=UDPGT 2B28;          EC=2.4.1.17; Flags: Precursor;							48.0	40.0	42.0					4																	69885521		692	1590	2282	SO:0001628	intergenic_variant	7365				lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:69885521T>A																													4.37:g.69885521T>A						UGT2B10_uc011can.1_Intron	p.V156V			P36537	UDB10_HUMAN			4	604	-			193						Silent	SNP		37	c.468A>T																																																																																				0	0.383									24	42	0	0	0	0.005443	0	24	42				
UGT2B28	54490	broad.mit.edu	37	4	70156417	70156418	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr4:70156417_70156418CC>AA	ENST00000335568.5	+	5	1200_1201	c.1198_1199CC>AA	c.(1198-1200)CCt>AAt	p.P400N	UGT2B28_ENST00000511240.1_Intron	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28	400					metabolic process (GO:0008152)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)	p.P400N(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31						TTGGGATCAACCTGATAACATT	0.45																																							uc003hej.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1198-1200)CCT>AAT		UDP glucuronosyltransferase 2 family,	Flunitrazepam(DB01544)																																			SO:0001583	missense	54490				xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:70156417_70156418CC>AA	AF177272	CCDS3528.1, CCDS56330.1	4q13.3	2011-02-09	2005-07-20		ENSG00000135226	ENSG00000135226		"""UDP glucuronosyltransferases"""	13479	protein-coding gene	gene with protein product		606497	"""UDP glycosyltransferase 2 family, polypeptide B28"""			11300766	Standard	NM_053039		Approved		uc003hej.3	Q9BY64	OTTHUMG00000129401	Exception_encountered	4.37:g.70156417_70156418delinsAA	ENSP00000334276:p.Pro400Asn					UGT2B28_uc010ihr.2_Intron	p.P400N	NM_053039	NP_444267	Q9BY64	UDB28_HUMAN			5	1200_1201	+			400					B5BUM0|Q9BY62|Q9BY63	Missense_Mutation	DNP	ENST00000335568.5	37	c.1198_1199CC>AA	CCDS3528.1																																																																																				0.450	UGT2B28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251557.2	NM_053039		45	140	0	0	0	0.004672	0	45	140				
CABS1	85438	broad.mit.edu	37	4	71200971	71200971	+	Missense_Mutation	SNP	A	A	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr4:71200971A>T	ENST00000273936.5	+	1	289	c.215A>T	c.(214-216)aAg>aTg	p.K72M		NM_033122.3	NP_149113.3	Q96KC9	CABS1_HUMAN	calcium-binding protein, spermatid-specific 1	72					spermatogenesis (GO:0007283)	mitochondrial inner membrane (GO:0005743)|motile cilium (GO:0031514)	calcium ion binding (GO:0005509)	p.K72M(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(4)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						ACAGCTAAAAAGGAAAAACTC	0.373																																							uc003hff.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(214-216)AAG>ATG		testis development protein NYD-SP26							73.0	76.0	75.0					4																	71200971		2203	4298	6501	SO:0001583	missense	85438					flagellum	calcium ion binding	g.chr4:71200971A>T	AF380838	CCDS3539.1	4q13.3	2013-10-11	2011-01-25	2011-01-25	ENSG00000145309	ENSG00000145309			30710	protein-coding gene	gene with protein product	"""casein-like phosphoprotein"""		"""chromosome 4 open reading frame 35"""	C4orf35		19208547, 19271754	Standard	NM_033122		Approved	NYD-SP26, FLJ32897, CLPH	uc003hff.3	Q96KC9	OTTHUMG00000129405	ENST00000273936.5:c.215A>T	4.37:g.71200971A>T	ENSP00000273936:p.Lys72Met						p.K72M	NM_033122	NP_149113	Q96KC9	CABS1_HUMAN			1	301	+		all_hematologic(202;0.196)	72					B2RCB5|Q86UE0|Q96M17	Missense_Mutation	SNP	ENST00000273936.5	37	c.215A>T	CCDS3539.1	.	.	.	.	.	.	.	.	.	.	A	14.33	2.502639	0.44455	.	.	ENSG00000145309	ENST00000273936	T	0.37752	1.18	4.56	4.56	0.56223	.	0.000000	0.37906	N	0.001883	T	0.46464	0.1394	L	0.34521	1.04	0.34247	D	0.678366	D	0.89917	1.0	D	0.91635	0.999	T	0.60120	-0.7325	10	0.72032	D	0.01	-28.7127	10.4869	0.44729	1.0:0.0:0.0:0.0	.	72	Q96KC9	CABS1_HUMAN	M	72	ENSP00000273936:K72M	ENSP00000273936:K72M	K	+	2	0	CABS1	71235560	1.000000	0.71417	0.980000	0.43619	0.287000	0.27160	3.571000	0.53841	2.054000	0.61138	0.533000	0.62120	AAG		0.373	CABS1-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251561.3	NM_033122		53	69	0	0	0	0.00361	0	53	69				
SOWAHB	345079	broad.mit.edu	37	4	77817998	77817998	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr4:77817998G>T	ENST00000334306.2	-	1	1004	c.1005C>A	c.(1003-1005)ttC>ttA	p.F335L		NM_001029870.1	NP_001025041.1	A6NEL2	SWAHB_HUMAN	sosondowah ankyrin repeat domain family member B	335								p.F335L(1)									GCAGCTGGAGGAAGTTGTCTG	0.642																																							uc003hki.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1003-1005)TTC>TTA		ankyrin repeat domain 56							39.0	48.0	45.0					4																	77817998		2203	4299	6502	SO:0001583	missense	345079							g.chr4:77817998G>T		CCDS34017.1	4q21.1	2013-01-10	2012-01-12	2012-01-12	ENSG00000186212	ENSG00000186212		"""Ankyrin repeat domain containing"""	32958	protein-coding gene	gene with protein product			"""ankyrin repeat domain 56"""	ANKRD56		22234889	Standard	NM_001029870		Approved		uc003hki.3	A6NEL2	OTTHUMG00000160876	ENST00000334306.2:c.1005C>A	4.37:g.77817998G>T	ENSP00000334879:p.Phe335Leu						p.F335L	NM_001029870	NP_001025041	A6NEL2	ANR56_HUMAN			1	1005	-			335					B2RP29	Missense_Mutation	SNP	ENST00000334306.2	37	c.1005C>A	CCDS34017.1	.	.	.	.	.	.	.	.	.	.	G	19.89	3.911737	0.72983	.	.	ENSG00000186212	ENST00000334306	T	0.07216	3.21	4.44	4.44	0.53790	.	.	.	.	.	T	0.06826	0.0174	L	0.29908	0.895	0.28135	N	0.930059	B	0.28636	0.218	B	0.25759	0.063	T	0.22068	-1.0227	9	0.15952	T	0.53	-11.6904	12.4972	0.55935	0.0:0.1697:0.8303:0.0	.	335	A6NEL2	ANR56_HUMAN	L	335	ENSP00000334879:F335L	ENSP00000334879:F335L	F	-	3	2	ANKRD56	78037022	0.780000	0.28664	0.984000	0.44739	0.762000	0.43233	1.170000	0.31883	2.295000	0.77249	0.561000	0.74099	TTC		0.642	SOWAHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362762.1	NM_001029870		14	41	1	0	4.93089e-13	0.00245	7.56662e-13	14	41				
FRAS1	80144	broad.mit.edu	37	4	79399131	79399131	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr4:79399131G>C	ENST00000264895.6	+	55	8454	c.8014G>C	c.(8014-8016)Gat>Cat	p.D2672H		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	2668	Calx-beta 2.				cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)	p.D2673H(1)|p.D2672H(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						CGATACCGAGGATGAACCCAC	0.453																																							uc003hlb.2		NA																	2	Substitution - Missense(2)		lung(2)	large_intestine(5)	5						c.(8014-8016)GAT>CAT		Fraser syndrome 1							96.0	94.0	95.0					4																	79399131		1909	4135	6044	SO:0001583	missense	80144				cell communication	integral to membrane|plasma membrane	metal ion binding	g.chr4:79399131G>C	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000264895.6:c.8014G>C	4.37:g.79399131G>C	ENSP00000264895:p.Asp2672His						p.D2672H	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN			55	8454	+			2667			Extracellular (Potential).|Calx-beta 2.		A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	ENST00000264895.6	37	c.8014G>C	CCDS54771.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.12|16.12	3.033819|3.033819	0.54896|0.54896	.|.	.|.	ENSG00000138759|ENSG00000138759	ENST00000264895|ENST00000512123	T|.	0.55234|.	0.53|.	5.69|5.69	5.69|5.69	0.88448|0.88448	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.75932|0.75932	0.3917|0.3917	M|M	0.67569|0.67569	2.06|2.06	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	T|T	0.72707|0.72707	-0.4212|-0.4212	10|5	0.87932|.	D|.	0|.	.|.	20.181|20.181	0.98201|0.98201	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	2672|.	E9PHH6|.	.|.	H|A	2672|900	ENSP00000264895:D2672H|.	ENSP00000264895:D2672H|.	D|G	+|+	1|2	0|0	FRAS1|FRAS1	79618155|79618155	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.059000|0.059000	0.15707|0.15707	9.165000|9.165000	0.94761|0.94761	2.840000|2.840000	0.97914|0.97914	0.655000|0.655000	0.94253|0.94253	GAT|GGA		0.453	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				5	6	0	0	0	0.000602	0	5	6				
ANXA3	306	broad.mit.edu	37	4	79503387	79503387	+	Silent	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr4:79503387G>T	ENST00000264908.6	+	5	634	c.255G>T	c.(253-255)gtG>gtT	p.V85V	ANXA3_ENST00000503570.2_Silent_p.V46V|ANXA3_ENST00000512884.1_Silent_p.V46V	NM_005139.2	NP_005130.1	P12429	ANXA3_HUMAN	annexin A3	85					defense response to bacterium (GO:0042742)|neutrophil degranulation (GO:0043312)|phagocytosis (GO:0006909)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|specific granule (GO:0042581)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|phospholipase A2 inhibitor activity (GO:0019834)	p.V85V(1)		NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						ATCTCATGGTGGCCCTAGTGA	0.448																																					GBM(2;126 157 27790 28920 42492)	GBM(2;126 157 27790 28920 42492)	uc003hld.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(253-255)GTG>GTT		annexin A3							85.0	83.0	84.0					4																	79503387		2203	4300	6503	SO:0001819	synonymous_variant	306				defense response to bacterium|neutrophil degranulation|phagocytosis|positive regulation of angiogenesis|positive regulation of endothelial cell migration|positive regulation of sequence-specific DNA binding transcription factor activity	phagocytic vesicle membrane|plasma membrane|specific granule	calcium ion binding|calcium-dependent phospholipid binding|phospholipase A2 inhibitor activity	g.chr4:79503387G>T	M63310	CCDS3584.1	4q21.21	2009-07-10			ENSG00000138772	ENSG00000138772	3.1.4.43	"""Annexins"""	541	protein-coding gene	gene with protein product		106490		ANX3		1830024	Standard	XM_005262973		Approved		uc003hld.3	P12429	OTTHUMG00000130198	ENST00000264908.6:c.255G>T	4.37:g.79503387G>T						ANXA3_uc003hle.2_Silent_p.V46V|ANXA3_uc010ijk.2_Silent_p.V46V	p.V85V	NM_005139	NP_005130	P12429	ANXA3_HUMAN			5	565	+			85			Annexin 1.		B2R9W6|Q6LET2	Silent	SNP	ENST00000264908.6	37	c.255G>T	CCDS3584.1																																																																																				0.448	ANXA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252516.3	NM_005139		9	54	1	0	1.12685e-05	0.004482	1.32678e-05	9	54				
GK2	2712	broad.mit.edu	37	4	80328582	80328582	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr4:80328582C>T	ENST00000358842.3	-	1	790	c.773G>A	c.(772-774)gGg>gAg	p.G258E		NM_033214.2	NP_149991.2	Q01415	GALK2_HUMAN	glycerol kinase 2	0					carbohydrate metabolic process (GO:0005975)|galactose metabolic process (GO:0006012)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|galactokinase activity (GO:0004335)|N-acetylgalactosamine kinase activity (GO:0033858)	p.G258E(1)		autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						ACATTGGTCCCCCAAACACCC	0.458																																							uc003hlu.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)	4						c.(772-774)GGG>GAG		glycerol kinase 2							97.0	93.0	94.0					4																	80328582		2203	4300	6503	SO:0001583	missense	2712				glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity	g.chr4:80328582C>T	BC029820	CCDS3585.1	4q13	2008-02-05	2002-10-03	2002-10-04	ENSG00000196475	ENSG00000196475		"""Glycerol kinases"""	4291	protein-coding gene	gene with protein product		600148	"""glycerol kinase pseudogene 2"""	GKP2		7987308	Standard	NM_033214		Approved	GKTA	uc003hlu.3	Q14410	OTTHUMG00000130199	ENST00000358842.3:c.773G>A	4.37:g.80328582C>T	ENSP00000351706:p.Gly258Glu						p.G258E	NM_033214	NP_149991	Q14410	GLPK2_HUMAN			1	791	-			258					Q7Z4Q4	Missense_Mutation	SNP	ENST00000358842.3	37	c.773G>A	CCDS3585.1	.	.	.	.	.	.	.	.	.	.	C	19.77	3.889381	0.72524	.	.	ENSG00000196475	ENST00000358842	T	0.62941	-0.01	3.92	3.92	0.45320	Carbohydrate kinase, FGGY, N-terminal (1);	0.110120	0.64402	D	0.000009	D	0.85982	0.5824	H	0.97940	4.11	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90716	0.4631	10	0.87932	D	0	-9.1028	14.2359	0.65927	0.0:1.0:0.0:0.0	.	258	Q14410	GLPK2_HUMAN	E	258	ENSP00000351706:G258E	ENSP00000351706:G258E	G	-	2	0	GK2	80547606	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	5.266000	0.65525	2.496000	0.84212	0.585000	0.79938	GGG		0.458	GK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252517.2	NM_033214		17	95	0	0	0	0.00499	0	17	95				
ARHGAP24	83478	broad.mit.edu	37	4	86844845	86844845	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr4:86844845C>T	ENST00000395184.1	+	4	779	c.313C>T	c.(313-315)Ctc>Ttc	p.L105F	ARHGAP24_ENST00000503995.1_Missense_Mutation_p.L105F|ARHGAP24_ENST00000395183.2_Missense_Mutation_p.L10F	NM_001025616.2	NP_001020787.2	Q8N264	RHG24_HUMAN	Rho GTPase activating protein 24	105	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				activation of Rac GTPase activity (GO:0032863)|angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of ruffle assembly (GO:1900028)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|wound healing, spreading of epidermal cells (GO:0035313)	cell projection (GO:0042995)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)	Rac GTPase activator activity (GO:0030675)	p.L105F(1)		breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1)	24		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000571)		AAGCTACCTCCTCATGGCAAG	0.473																																							uc003hpk.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(313-315)CTC>TTC		Rho GTPase activating protein 24 isoform 1							106.0	96.0	99.0					4																	86844845		2203	4300	6503	SO:0001583	missense	83478				angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell projection|cytoskeleton|cytosol|focal adhesion	GTPase activator activity|protein binding	g.chr4:86844845C>T	AK091196	CCDS3611.1, CCDS34025.1, CCDS43246.1	4q22.1	2013-01-10			ENSG00000138639	ENSG00000138639		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	25361	protein-coding gene	gene with protein product		610586				11230166, 15254788	Standard	NM_001042669		Approved	DKFZP564B1162, FLJ33877, FilGAP	uc003hpk.3	Q8N264	OTTHUMG00000130427	ENST00000395184.1:c.313C>T	4.37:g.86844845C>T	ENSP00000378611:p.Leu105Phe					ARHGAP24_uc003hpj.2_Missense_Mutation_p.L105F|ARHGAP24_uc003hpl.2_Missense_Mutation_p.L10F|ARHGAP24_uc010ikf.2_Missense_Mutation_p.L20F	p.L105F	NM_001025616	NP_001020787	Q8N264	RHG24_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000571)	4	762	+		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)	105			PH.		Q4KMG1|Q6ZNV3|Q86TI5|Q86WE4|Q9H0T6	Missense_Mutation	SNP	ENST00000395184.1	37	c.313C>T	CCDS34025.1	.	.	.	.	.	.	.	.	.	.	C	32	5.176079	0.94846	.	.	ENSG00000138639	ENST00000395184;ENST00000503995;ENST00000512201;ENST00000395183;ENST00000514229	T;T;T;T;T	0.26810	2.77;2.77;1.71;1.71;1.71	6.03	6.03	0.97812	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.057673	0.64402	D	0.000001	T	0.51568	0.1682	L	0.60845	1.875	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.981	D;D;D	0.91635	0.966;0.999;0.923	T	0.45071	-0.9286	10	0.87932	D	0	.	20.5666	0.99351	0.0:1.0:0.0:0.0	.	10;105;105	Q8N264-3;Q8N264;Q8N264-4	.;RHG24_HUMAN;.	F	105;105;10;10;20	ENSP00000378611:L105F;ENSP00000423206:L105F;ENSP00000426105:L10F;ENSP00000378610:L10F;ENSP00000425589:L20F	ENSP00000378610:L10F	L	+	1	0	ARHGAP24	87063869	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	7.786000	0.85741	2.854000	0.98071	0.655000	0.94253	CTC		0.473	ARHGAP24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252815.2	NM_031305		7	49	0	0	0	0.00308	0	7	49				
MAPK10	5602	broad.mit.edu	37	4	87028474	87028474	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr4:87028474C>A	ENST00000359221.3	-	5	794	c.268G>T	c.(268-270)Gtg>Ttg	p.V90L	MAPK10_ENST00000395157.3_5'UTR|MAPK10_ENST00000395166.1_Missense_Mutation_p.V52L|MAPK10_ENST00000395161.2_Missense_Mutation_p.V90L|MAPK10_ENST00000513839.1_5'UTR|MAPK10_ENST00000395160.3_5'UTR|MAPK10_ENST00000449047.2_5'UTR|MAPK10_ENST00000361569.2_Missense_Mutation_p.V90L|MAPK10_ENST00000395169.3_Missense_Mutation_p.V52L			P53779	MK10_HUMAN	mitogen-activated protein kinase 10	90	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|JUN phosphorylation (GO:0007258)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|JUN kinase activity (GO:0004705)|MAP kinase kinase activity (GO:0004708)	p.V90L(1)		breast(1)|central_nervous_system(1)|stomach(1)	3		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.243)		OV - Ovarian serous cystadenocarcinoma(123;0.002)		TTAATGGCCACATTTCTGTCA	0.448																																							uc003hpq.2		NA																	1	Substitution - Missense(1)		lung(1)	stomach(1)|breast(1)|central_nervous_system(1)	3						c.(268-270)GTG>TTG		mitogen-activated protein kinase 10 isoform 2							129.0	119.0	122.0					4																	87028474		2203	4300	6503	SO:0001583	missense	5602				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|JUN kinase activity|MAP kinase kinase activity|protein binding	g.chr4:87028474C>A	U07620	CCDS3612.1, CCDS3613.1, CCDS34026.1, CCDS43247.1	4q22-q23	2011-06-09			ENSG00000109339	ENSG00000109339	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinases"""	6872	protein-coding gene	gene with protein product		602897		PRKM10		8654373, 12436199	Standard	NM_002753		Approved	JNK3, p493F12, p54bSAPK	uc003hpt.3	P53779	OTTHUMG00000130604	ENST00000359221.3:c.268G>T	4.37:g.87028474C>A	ENSP00000352157:p.Val90Leu					MAPK10_uc010ikg.2_Missense_Mutation_p.V52L|MAPK10_uc003hpr.2_Missense_Mutation_p.V52L|MAPK10_uc003hps.2_Missense_Mutation_p.V90L|MAPK10_uc003hpt.2_Missense_Mutation_p.V90L|MAPK10_uc003hpu.2_Missense_Mutation_p.V90L|MAPK10_uc003hpv.2_5'UTR|MAPK10_uc010ikh.1_RNA|MAPK10_uc003hpo.2_5'UTR|MAPK10_uc011ccw.1_5'UTR|MAPK10_uc003hpp.2_5'UTR	p.V90L	NM_138982	NP_620448	P53779	MK10_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.002)	4	335	-		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.243)	90			Protein kinase.		A6NFS3|A6NG28|B3KQ94|Q15707|Q49AP1	Missense_Mutation	SNP	ENST00000359221.3	37	c.268G>T	CCDS34026.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.8|27.8	4.867139|4.867139	0.91511|0.91511	.|.	.|.	ENSG00000109339|ENSG00000109339	ENST00000515400|ENST00000395169;ENST00000359221;ENST00000361569;ENST00000395166;ENST00000395161;ENST00000512017;ENST00000512564;ENST00000511167;ENST00000511328;ENST00000509464;ENST00000506773	.|T;T;T;T;T;T;T;T;T;T;D	.|0.86230	.|-0.57;-0.57;-0.57;-0.57;-0.57;-0.57;-0.57;-0.57;-0.57;-0.57;-2.09	6.05|6.05	6.05|6.05	0.98169|0.98169	.|Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.90872|0.90872	0.7132|0.7132	M|M	0.81942|0.81942	2.565|2.565	0.80722|0.80722	D|D	1|1	.|B;B;B	.|0.30914	.|0.036;0.065;0.3	.|B;B;B	.|0.39094	.|0.059;0.085;0.29	D|D	0.89324|0.89324	0.3642|0.3642	5|10	.|0.87932	.|D	.|0	-17.5195|-17.5195	20.6013|20.6013	0.99457|0.99457	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|52;90;90	.|P53779-3;P53779-2;P53779	.|.;.;MK10_HUMAN	F|L	2|52;90;90;52;90;90;52;90;90;52;90	.|ENSP00000378598:V52L;ENSP00000352157:V90L;ENSP00000355297:V90L;ENSP00000378595:V52L;ENSP00000378590:V90L;ENSP00000424755:V90L;ENSP00000422985:V52L;ENSP00000422277:V90L;ENSP00000421762:V90L;ENSP00000424128:V52L;ENSP00000421359:V90L	.|ENSP00000309857:V90L	C|V	-|-	2|1	0|0	MAPK10|MAPK10	87247498|87247498	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.818000|7.818000	0.86416|0.86416	2.878000|2.878000	0.98634|0.98634	0.650000|0.650000	0.86243|0.86243	TGT|GTG		0.448	MAPK10-012	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000361363.2			8	57	1	0	0.000274275	0.004482	0.00030271	8	57				
DSPP	1834	broad.mit.edu	37	4	88533716	88533716	+	Silent	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr4:88533716G>T	ENST00000282478.7	+	3	411	c.378G>T	c.(376-378)ggG>ggT	p.G126G	DSPP_ENST00000399271.1_Silent_p.G126G|RP11-742B18.1_ENST00000506480.1_RNA			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	126					biomineral tissue development (GO:0031214)|cellular response to cell-matrix adhesion (GO:0071460)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)	p.G126G(1)		breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		GAATACATGGGAAAGAAGAAA	0.413																																							uc003hqu.2		NA																	1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(376-378)GGG>GGT		dentin sialophosphoprotein preproprotein							135.0	124.0	127.0					4																	88533716		1975	4180	6155	SO:0001819	synonymous_variant	1834				biomineral tissue development|ossification|skeletal system development	proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent	g.chr4:88533716G>T	AF163151	CCDS43248.1	4q21.3	2008-02-05			ENSG00000152591	ENSG00000152591			3054	protein-coding gene	gene with protein product		125485		DFNA39, DGI1		8995371, 9533027	Standard	NM_014208		Approved	DMP3	uc003hqu.3	Q9NZW4	OTTHUMG00000161061	ENST00000282478.7:c.378G>T	4.37:g.88533716G>T							p.G126G	NM_014208	NP_055023	Q9NZW4	DSPP_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000508)	4	498	+		Hepatocellular(203;0.114)|all_hematologic(202;0.236)	126					A8MUI0|O95815	Silent	SNP	ENST00000282478.7	37	c.378G>T	CCDS43248.1																																																																																				0.413	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363616.3	NM_014208		8	39	1	0	1.12685e-05	0.004482	1.32678e-05	8	39				
MEPE	56955	broad.mit.edu	37	4	88766498	88766498	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr4:88766498G>T	ENST00000424957.3	+	4	551	c.478G>T	c.(478-480)Gcg>Tcg	p.A160S	MEPE_ENST00000540395.1_Missense_Mutation_p.A47S|MEPE_ENST00000497649.2_Missense_Mutation_p.A136S|MEPE_ENST00000560249.1_Missense_Mutation_p.A47S|MEPE_ENST00000508016.1_3'UTR|MEPE_ENST00000395102.4_Missense_Mutation_p.A191S|MEPE_ENST00000361056.3_Missense_Mutation_p.A160S	NM_001184694.1	NP_001171623.1	Q9NQ76	MEPE_HUMAN	matrix extracellular phosphoglycoprotein	160					biomineral tissue development (GO:0031214)|negative regulation of bone mineralization (GO:0030502)|regulation of bone remodeling (GO:0046850)|skeletal system development (GO:0001501)	proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)	p.A160S(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000432)		GCCAGTGACTGCGATTAAACT	0.418																																							uc003hqy.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)|skin(1)	3						c.(478-480)GCG>TCG		matrix, extracellular phosphoglycoprotein with							60.0	61.0	61.0					4																	88766498		2203	4300	6503	SO:0001583	missense	56955				skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding	g.chr4:88766498G>T	AJ276396	CCDS3625.1, CCDS54776.1	4q21.1	2008-08-29	2008-08-29		ENSG00000152595	ENSG00000152595			13361	protein-coding gene	gene with protein product		605912	"""matrix, extracellular phosphoglycoprotein with ASARM motif (bone)"""			10945470	Standard	NM_020203		Approved		uc003hqy.3	Q9NQ76	OTTHUMG00000130592	ENST00000424957.3:c.478G>T	4.37:g.88766498G>T	ENSP00000416984:p.Ala160Ser					MEPE_uc010ikn.2_Missense_Mutation_p.A47S	p.A160S	NM_020203	NP_064588	Q9NQ76	MEPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000432)	4	517	+		Hepatocellular(203;0.114)	160					A1A4X9|A8MTA3|D2CFR4|F5H5C5	Missense_Mutation	SNP	ENST00000424957.3	37	c.478G>T	CCDS3625.1	.	.	.	.	.	.	.	.	.	.	G	14.68	2.608162	0.46527	.	.	ENSG00000152595	ENST00000535138;ENST00000424957;ENST00000395102;ENST00000497649;ENST00000540395;ENST00000361056	T;T;T;T;T	0.48836	4.33;0.81;0.8;0.81;4.33	4.84	4.84	0.62591	.	0.598969	0.14912	N	0.291142	T	0.45558	0.1348	L	0.39898	1.24	0.09310	N	1	P	0.45428	0.858	P	0.46144	0.505	T	0.30966	-0.9960	10	0.31617	T	0.26	-2.6423	13.3401	0.60540	0.0:0.0:1.0:0.0	.	160	Q9NQ76	MEPE_HUMAN	S	160;160;191;136;47;160	ENSP00000416984:A160S;ENSP00000378534:A191S;ENSP00000422747:A136S;ENSP00000443491:A47S;ENSP00000354341:A160S	ENSP00000354341:A160S	A	+	1	0	MEPE	88985522	0.001000	0.12720	0.006000	0.13384	0.011000	0.07611	0.968000	0.29357	2.523000	0.85059	0.655000	0.94253	GCG		0.418	MEPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253038.1			8	61	1	0	0.000442599	0.006214	0.000486383	8	61				
COL25A1	84570	broad.mit.edu	37	4	109895542	109895542	+	Missense_Mutation	SNP	T	T	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr4:109895542T>A	ENST00000399132.1	-	8	1003	c.473A>T	c.(472-474)cAa>cTa	p.Q158L	COL25A1_ENST00000399127.1_Missense_Mutation_p.Q158L|COL25A1_ENST00000399126.1_Missense_Mutation_p.Q158L	NM_198721.2	NP_942014.1			collagen, type XXV, alpha 1									p.Q158L(2)		NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		CTGATCACCTTGTTCTCCCTG	0.373																																							uc003hze.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(472-474)CAA>CTA		collagen, type XXV, alpha 1 isoform 1							125.0	117.0	120.0					4																	109895542		1865	4095	5960	SO:0001583	missense	84570					collagen|extracellular space	beta-amyloid binding|heparin binding	g.chr4:109895542T>A	AF293340	CCDS43258.1, CCDS43259.1, CCDS58922.1	4q25	2013-01-16			ENSG00000188517	ENSG00000188517		"""Collagens"""	18603	protein-coding gene	gene with protein product		610004				11927537	Standard	NM_001256074		Approved		uc003hze.2	Q9BXS0	OTTHUMG00000150039	ENST00000399132.1:c.473A>T	4.37:g.109895542T>A	ENSP00000382083:p.Gln158Leu					COL25A1_uc003hzg.2_Missense_Mutation_p.Q158L|COL25A1_uc003hzd.2_RNA|COL25A1_uc003hzf.2_5'UTR	p.Q158L	NM_198721	NP_942014	Q9BXS0	COPA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000173)	7	1004	-		Hepatocellular(203;0.217)	158			Extracellular (Potential).|Collagen-like 1.			Missense_Mutation	SNP	ENST00000399132.1	37	c.473A>T	CCDS43258.1	.	.	.	.	.	.	.	.	.	.	T	13.93	2.383868	0.42308	.	.	ENSG00000188517	ENST00000399132;ENST00000333642;ENST00000401873;ENST00000399127;ENST00000399126;ENST00000443653	D;T;D	0.95137	-3.62;0.89;-3.62	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	D	0.95230	0.8453	L	0.38953	1.18	0.41873	D	0.990286	D;D	0.59357	0.981;0.985	D;D	0.74023	0.969;0.982	D	0.94738	0.7916	9	.	.	.	-7.2521	14.7834	0.69784	0.0:0.0:0.0:1.0	.	158;158	Q9BXS0-2;Q9BXS0	.;COPA1_HUMAN	L	158;160;154;158;158;160	ENSP00000382083:Q158L;ENSP00000382078:Q158L;ENSP00000382077:Q158L	.	Q	-	2	0	COL25A1	110114991	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.896000	0.63222	2.231000	0.72958	0.455000	0.32223	CAA		0.373	COL25A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315938.2	NM_032518		27	59	0	0	0	0.002096	0	27	59				
SEC24B	10427	broad.mit.edu	37	4	110452656	110452656	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr4:110452656G>T	ENST00000265175.5	+	20	3423	c.3368G>T	c.(3367-3369)aGg>aTg	p.R1123M	SEC24B_ENST00000399100.2_Missense_Mutation_p.R1088M|SEC24B_ENST00000504968.2_Missense_Mutation_p.R1153M	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN	SEC24 family member B	1123					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|aorta morphogenesis (GO:0035909)|auditory receptor cell stereocilium organization (GO:0060088)|cellular protein metabolic process (GO:0044267)|cochlear nucleus development (GO:0021747)|COPII vesicle coating (GO:0048208)|coronary artery morphogenesis (GO:0060982)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|lung lobe morphogenesis (GO:0060463)|membrane organization (GO:0061024)|neural tube closure (GO:0001843)|outflow tract morphogenesis (GO:0003151)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|pulmonary artery morphogenesis (GO:0061156)|regulation of cargo loading into COPII-coated vesicle (GO:1901301)|regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)|small molecule metabolic process (GO:0044281)|vesicle-mediated transport (GO:0016192)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|membrane (GO:0016020)	transporter activity (GO:0005215)|zinc ion binding (GO:0008270)	p.R1123M(1)|p.R1088M(1)		breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		AACTTATACAGGATAGACAGA	0.348																																							uc003hzk.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|large_intestine(1)	3						c.(3367-3369)AGG>ATG		SEC24 (S. cerevisiae) homolog B isoform a							109.0	105.0	106.0					4																	110452656		1870	4108	5978	SO:0001583	missense	10427				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|transporter activity|zinc ion binding	g.chr4:110452656G>T	AJ131245	CCDS43260.1, CCDS47124.1, CCDS75179.1	4q25	2013-10-21	2013-10-21		ENSG00000138802	ENSG00000138802			10704	protein-coding gene	gene with protein product		607184	"""SEC24 (S. cerevisiae) related gene family, member B"", ""SEC24 family, member B (S. cerevisiae)"""			10075675, 10329445	Standard	XM_005262688		Approved		uc003hzk.3	O95487	OTTHUMG00000161372	ENST00000265175.5:c.3368G>T	4.37:g.110452656G>T	ENSP00000265175:p.Arg1123Met					SEC24B_uc003hzl.2_Missense_Mutation_p.R1088M|SEC24B_uc011cfp.1_Missense_Mutation_p.R1153M|SEC24B_uc011cfq.1_Missense_Mutation_p.R1122M|SEC24B_uc011cfr.1_Missense_Mutation_p.R1087M	p.R1123M	NM_006323	NP_006314	O95487	SC24B_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)	20	3423	+		Hepatocellular(203;0.217)	1123					B7ZKM8|B7ZKN4|Q0VG08	Missense_Mutation	SNP	ENST00000265175.5	37	c.3368G>T	CCDS47124.1	.	.	.	.	.	.	.	.	.	.	G	19.78	3.891926	0.72524	.	.	ENSG00000138802	ENST00000504968;ENST00000399100;ENST00000265175	T;T;T	0.31510	1.49;1.49;1.49	5.34	5.34	0.76211	.	0.047637	0.85682	D	0.000000	T	0.62171	0.2406	M	0.87547	2.89	0.80722	D	1	B;D;B;D;D	0.57257	0.134;0.965;0.36;0.979;0.965	B;P;B;D;P	0.67103	0.189;0.898;0.431;0.949;0.89	T	0.68337	-0.5435	10	0.62326	D	0.03	-11.3732	19.0383	0.92987	0.0:0.0:1.0:0.0	.	1037;722;1153;1088;1123	B4DTM6;B4E2E1;B7ZKM8;O95487-2;O95487	.;.;.;.;SC24B_HUMAN	M	1153;1088;1123	ENSP00000428564:R1153M;ENSP00000382051:R1088M;ENSP00000265175:R1123M	ENSP00000265175:R1123M	R	+	2	0	SEC24B	110672105	1.000000	0.71417	1.000000	0.80357	0.478000	0.33099	9.864000	0.99589	2.492000	0.84095	0.650000	0.86243	AGG		0.348	SEC24B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000364693.2			15	73	1	0	1.15088e-07	0.004007	1.44674e-07	15	73				
ALPK1	80216	broad.mit.edu	37	4	113332985	113332985	+	Silent	SNP	G	G	C			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr4:113332985G>C	ENST00000458497.1	+	5	558	c.279G>C	c.(277-279)gcG>gcC	p.A93A	ALPK1_ENST00000504176.2_Silent_p.A15A|ALPK1_ENST00000177648.9_Silent_p.A93A|ALPK1_ENST00000505912.1_3'UTR	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	93							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.A93A(1)		NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		TCCTCCAGGCGTCCCTGAGGG	0.592																																							uc003iap.3		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(5)	5						c.(277-279)GCG>GCC		alpha-kinase 1							37.0	35.0	35.0					4																	113332985		2203	4300	6503	SO:0001819	synonymous_variant	80216						ATP binding|protein serine/threonine kinase activity	g.chr4:113332985G>C	AY044164	CCDS3697.1, CCDS58923.1	4q26	2008-02-05			ENSG00000073331	ENSG00000073331			20917	protein-coding gene	gene with protein product	"""lymphocyte alpha-kinase"""	607347				10021370, 10819331	Standard	NM_025144		Approved	Lak, FLJ22670, KIAA1527	uc003ian.4	Q96QP1	OTTHUMG00000132911	ENST00000458497.1:c.279G>C	4.37:g.113332985G>C						ALPK1_uc011cfw.1_RNA|ALPK1_uc003ian.3_Silent_p.A93A|ALPK1_uc011cfx.1_Silent_p.A15A|ALPK1_uc003iao.3_RNA|ALPK1_uc003iaq.2_Silent_p.A37A|ALPK1_uc010imo.2_5'UTR|ALPK1_uc003iar.2_Silent_p.A63A	p.A93A	NM_025144	NP_079420	Q96QP1	ALPK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00325)	5	558	+		Ovarian(17;0.0446)|Hepatocellular(203;0.217)	93					B4E3G1|F5H138|Q68CI9|Q6P9F9|Q6ZNK4|Q9P201	Silent	SNP	ENST00000458497.1	37	c.279G>C	CCDS3697.1																																																																																				0.592	ALPK1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256421.2	NM_025144		3	12	0	0	0	0.004672	0	3	12				
PRDM5	11107	broad.mit.edu	37	4	121774658	121774658	+	Missense_Mutation	SNP	T	T	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr4:121774658T>A	ENST00000264808.3	-	3	455	c.215A>T	c.(214-216)gAt>gTt	p.D72V	PRDM5_ENST00000428209.2_Missense_Mutation_p.D72V|PRDM5_ENST00000515109.1_Missense_Mutation_p.D72V|PRDM5_ENST00000394435.2_Missense_Mutation_p.D72V	NM_018699.2	NP_061169.2	Q9NQX1	PRDM5_HUMAN	PR domain containing 5	72	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				histone deacetylation (GO:0016575)|histone H3-K9 methylation (GO:0051567)|mitotic cell cycle (GO:0000278)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|repressing transcription factor binding (GO:0070491)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.D72V(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GTTGGTAGCATCCAAAATGTA	0.448																																							uc003idn.2		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|pancreas(1)	2						c.(214-216)GAT>GTT		PR domain containing 5							286.0	279.0	281.0					4																	121774658		2203	4300	6503	SO:0001583	missense	11107				histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding	g.chr4:121774658T>A	AF272897	CCDS3716.1, CCDS75187.1, CCDS75188.1	4q25-q26	2013-01-08			ENSG00000138738	ENSG00000138738		"""Zinc fingers, C2H2-type"""	9349	protein-coding gene	gene with protein product		614161					Standard	XM_005262706		Approved	PFM2	uc003idn.3	Q9NQX1	OTTHUMG00000132970	ENST00000264808.3:c.215A>T	4.37:g.121774658T>A	ENSP00000264808:p.Asp72Val					PRDM5_uc003ido.2_Missense_Mutation_p.D72V|PRDM5_uc010ine.2_Missense_Mutation_p.D72V|PRDM5_uc010inf.2_Missense_Mutation_p.D72V|PRDM5_uc003idp.1_Missense_Mutation_p.D72V	p.D72V	NM_018699	NP_061169	Q9NQX1	PRDM5_HUMAN			3	465	-			72			SET.		Q0VAI9|Q0VAJ0|Q6NXQ7	Missense_Mutation	SNP	ENST00000264808.3	37	c.215A>T	CCDS3716.1	.	.	.	.	.	.	.	.	.	.	T	24.7	4.554953	0.86231	.	.	ENSG00000138738	ENST00000264808;ENST00000515109;ENST00000428209;ENST00000394435	D;D;D;T	0.89050	-2.46;-2.46;-2.46;-0.7	5.72	5.72	0.89469	SET domain (2);	0.000000	0.85682	D	0.000000	D	0.94604	0.8261	M	0.82323	2.585	0.80722	D	1	D;D;B;D	0.89917	0.999;1.0;0.441;0.999	D;D;B;D	0.87578	0.996;0.998;0.307;0.996	D	0.94925	0.8077	10	0.59425	D	0.04	-25.5426	15.2771	0.73750	0.0:0.0:0.0:1.0	.	72;72;72;72	Q0VAI9;Q9NQX1-3;Q9NQX1-2;Q9NQX1	.;.;.;PRDM5_HUMAN	V	72	ENSP00000264808:D72V;ENSP00000422309:D72V;ENSP00000404832:D72V;ENSP00000377955:D72V	ENSP00000264808:D72V	D	-	2	0	PRDM5	121994108	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.195000	0.77798	2.304000	0.77564	0.528000	0.53228	GAT		0.448	PRDM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256528.2			16	279	0	0	0	0.004007	0	16	279				
FAT4	79633	broad.mit.edu	37	4	126336650	126336650	+	Missense_Mutation	SNP	G	G	C	rs373678302		TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr4:126336650G>C	ENST00000394329.3	+	5	6545	c.6532G>C	c.(6532-6534)Gca>Cca	p.A2178P	FAT4_ENST00000335110.5_Missense_Mutation_p.A476P	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2178	Cadherin 21. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A2178S(2)|p.A2178P(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ACAAGTGTTCGCAGCAGATGG	0.398																																							uc003ifj.3		NA																	4	Substitution - Missense(4)		lung(4)	ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						c.(6532-6534)GCA>CCA		FAT tumor suppressor homolog 4 precursor							155.0	141.0	146.0					4																	126336650		2203	4300	6503	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126336650G>C	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.6532G>C	4.37:g.126336650G>C	ENSP00000377862:p.Ala2178Pro					FAT4_uc011cgp.1_Missense_Mutation_p.A476P	p.A2178P	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN			5	6532	+			2178			Cadherin 21.|Extracellular (Potential).		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.6532G>C	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	G	15.11	2.736052	0.49045	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.61980	0.06;0.06	5.6	5.6	0.85130	Cadherin (4);Cadherin-like (1);	0.000000	0.34110	U	0.004257	D	0.88239	0.6383	H	0.99444	4.57	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.76575	0.985;0.988	D	0.92827	0.6277	10	0.87932	D	0	.	15.259	0.73606	0.0:0.0:0.8591:0.1409	.	476;2178	Q6V0I7-2;Q6V0I7	.;FAT4_HUMAN	P	2178;476	ENSP00000377862:A2178P;ENSP00000335169:A476P	ENSP00000335169:A476P	A	+	1	0	FAT4	126556100	1.000000	0.71417	0.566000	0.28421	0.058000	0.15608	7.722000	0.84778	2.642000	0.89623	0.557000	0.71058	GCA		0.398	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		14	82	0	0	0	0.003163	0	14	82				
FAT4	79633	broad.mit.edu	37	4	126370085	126370085	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr4:126370085G>T	ENST00000394329.3	+	9	7927	c.7914G>T	c.(7912-7914)tgG>tgT	p.W2638C	FAT4_ENST00000335110.5_Missense_Mutation_p.W936C	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2638	Cadherin 25. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.W2638C(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						atgttgtatggatagaggcca	0.388																																							uc003ifj.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						c.(7912-7914)TGG>TGT		FAT tumor suppressor homolog 4 precursor							45.0	46.0	46.0					4																	126370085		2203	4300	6503	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126370085G>T	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.7914G>T	4.37:g.126370085G>T	ENSP00000377862:p.Trp2638Cys					FAT4_uc011cgp.1_Missense_Mutation_p.W936C|FAT4_uc003ifi.1_Missense_Mutation_p.W116C	p.W2638C	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN			9	7914	+			2638			Extracellular (Potential).|Cadherin 25.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.7914G>T	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	G	19.74	3.883098	0.72410	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.01705	4.68;4.68	5.9	5.9	0.94986	Cadherin (4);Cadherin-like (1);	0.000000	0.33327	U	0.005040	T	0.09992	0.0245	M	0.61703	1.905	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.999	T	0.04229	-1.0967	10	0.37606	T	0.19	.	20.2789	0.98501	0.0:0.0:1.0:0.0	.	936;2638;2638	Q6V0I7-2;Q6V0I7;Q6V0I7-3	.;FAT4_HUMAN;.	C	2638;936	ENSP00000377862:W2638C;ENSP00000335169:W936C	ENSP00000335169:W936C	W	+	3	0	FAT4	126589535	1.000000	0.71417	1.000000	0.80357	0.708000	0.40852	9.666000	0.98612	2.788000	0.95919	0.650000	0.86243	TGG		0.388	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		16	22	1	0	6.72482e-11	0.003163	9.59884e-11	16	22				
FAT4	79633	broad.mit.edu	37	4	126373104	126373104	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr4:126373104G>A	ENST00000394329.3	+	9	10946	c.10933G>A	c.(10933-10935)Gac>Aac	p.D3645N	FAT4_ENST00000335110.5_Missense_Mutation_p.D1943N	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3645					branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D3645N(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AGATGTGTTAGACAGCTTCCA	0.478																																							uc003ifj.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						c.(10933-10935)GAC>AAC		FAT tumor suppressor homolog 4 precursor							85.0	87.0	86.0					4																	126373104		2203	4300	6503	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126373104G>A	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.10933G>A	4.37:g.126373104G>A	ENSP00000377862:p.Asp3645Asn					FAT4_uc011cgp.1_Missense_Mutation_p.D1943N|FAT4_uc003ifi.1_Missense_Mutation_p.D1123N	p.D3645N	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN			9	10933	+			3645			Extracellular (Potential).		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.10933G>A	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	G	21.3	4.128386	0.77549	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.59224	0.28;0.28	5.91	5.91	0.95273	.	0.000000	0.36101	U	0.002792	T	0.72260	0.3438	L	0.47716	1.5	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.996;0.998	T	0.68224	-0.5465	10	0.40728	T	0.16	.	20.2985	0.98592	0.0:0.0:1.0:0.0	.	1943;3645;3645	Q6V0I7-2;Q6V0I7;Q6V0I7-3	.;FAT4_HUMAN;.	N	3645;1943	ENSP00000377862:D3645N;ENSP00000335169:D1943N	ENSP00000335169:D1943N	D	+	1	0	FAT4	126592554	1.000000	0.71417	0.966000	0.40874	0.504000	0.33889	9.666000	0.98612	2.793000	0.96121	0.655000	0.94253	GAC		0.478	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		32	47	0	0	0	0.003271	0	32	47				
USP38	84640	broad.mit.edu	37	4	144135716	144135716	+	Missense_Mutation	SNP	A	A	T	rs140701873		TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr4:144135716A>T	ENST00000307017.4	+	9	3093	c.2587A>T	c.(2587-2589)Agg>Tgg	p.R863W	USP38_ENST00000510377.1_Missense_Mutation_p.R863W	NM_032557.5	NP_115946.2	Q8NB14	UBP38_HUMAN	ubiquitin specific peptidase 38	863	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)	p.R863*(1)		breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	33	all_hematologic(180;0.158)					TTCTTATGCCAGGAATATCAC	0.438																																							uc003ijb.2		NA																	1	Substitution - Nonsense(1)		lung(1)	lung(2)|ovary(1)|breast(1)|pancreas(1)	5						c.(2587-2589)AGG>TGG		ubiquitin specific peptidase 38							90.0	85.0	86.0					4																	144135716		2203	4300	6503	SO:0001583	missense	84640				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr4:144135716A>T	AF211481	CCDS3758.1	4q31.1	2008-02-05	2005-08-08		ENSG00000170185	ENSG00000170185		"""Ubiquitin-specific peptidases"""	20067	protein-coding gene	gene with protein product			"""ubiquitin specific protease 38"""			12838346	Standard	NM_032557		Approved	KIAA1891, HP43.8KD	uc003ijb.3	Q8NB14	OTTHUMG00000161420	ENST00000307017.4:c.2587A>T	4.37:g.144135716A>T	ENSP00000303434:p.Arg863Trp					USP38_uc003ija.3_Missense_Mutation_p.R863W|USP38_uc003ijc.2_RNA	p.R863W	NM_032557	NP_115946	Q8NB14	UBP38_HUMAN			9	3121	+	all_hematologic(180;0.158)		863					B3KX93|Q3ZCV1|Q8NDF5|Q96DK6|Q96PZ6|Q9BY55	Missense_Mutation	SNP	ENST00000307017.4	37	c.2587A>T	CCDS3758.1	.	.	.	.	.	.	.	.	.	.	A	15.70	2.910528	0.52439	.	.	ENSG00000170185	ENST00000510377;ENST00000307017	T;T	0.77098	-1.07;-1.07	5.48	5.48	0.80851	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.048886	0.85682	D	0.000000	D	0.88757	0.6523	M	0.86953	2.85	0.58432	D	0.999997	D;D	0.89917	0.999;1.0	D;D	0.91635	0.994;0.999	D	0.90402	0.4403	10	0.87932	D	0	-5.8361	12.3949	0.55378	0.8597:0.1403:0.0:0.0	.	863;863	Q8NB14;Q3ZCV1	UBP38_HUMAN;.	W	863	ENSP00000427647:R863W;ENSP00000303434:R863W	ENSP00000303434:R863W	R	+	1	2	USP38	144355166	1.000000	0.71417	1.000000	0.80357	0.706000	0.40770	3.080000	0.50112	2.205000	0.71048	0.482000	0.46254	AGG		0.438	USP38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364869.1	NM_032557		14	31	0	0	0	0.00245	0	14	31				
RAPGEF2	9693	broad.mit.edu	37	4	160264211	160264211	+	Missense_Mutation	SNP	A	A	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr4:160264211A>T	ENST00000264431.4	+	15	2935	c.2516A>T	c.(2515-2517)gAt>gTt	p.D839V		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	839	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|blood vessel development (GO:0001568)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|cellular response to nerve growth factor stimulus (GO:1990090)|establishment of endothelial barrier (GO:0061028)|forebrain neuron development (GO:0021884)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|negative regulation of cell proliferation (GO:0008285)|negative regulation of dendrite morphogenesis (GO:0050774)|negative regulation of melanin biosynthetic process (GO:0048022)|nerve growth factor signaling pathway (GO:0038180)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein binding (GO:0032092)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of vasculogenesis (GO:2001214)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|regulation of synaptic plasticity (GO:0048167)|small GTPase mediated signal transduction (GO:0007264)|ventricular system development (GO:0021591)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synapse (GO:0045202)	beta-1 adrenergic receptor binding (GO:0031697)|calcium ion binding (GO:0005509)|cAMP binding (GO:0030552)|diacylglycerol binding (GO:0019992)|PDZ domain binding (GO:0030165)|Rap GTPase activator activity (GO:0046582)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|signal transducer activity (GO:0004871)|WW domain binding (GO:0050699)	p.D827V(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		CTATTTCAAGATCTCCAAGAC	0.418																																							uc003iqg.3		NA																	1	Substitution - Missense(1)		lung(1)	lung(2)|upper_aerodigestive_tract(1)|skin(1)	4						c.(2515-2517)GAT>GTT		Rap guanine nucleotide exchange factor 2							107.0	98.0	101.0					4																	160264211		1889	4115	6004	SO:0001583	missense	9693				cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr4:160264211A>T	AB002311	CCDS43277.1	4q32.1	2004-03-01	2004-03-01	2004-03-01					16854	protein-coding gene	gene with protein product	"""Rap GEP"""	609530	"""PDZ domain containing guanine nucleotide exchange factor (GEF) 1"""	PDZGEF1		9205841, 10934204	Standard	NM_014247		Approved	PDZ-GEF1, RA-GEF, DKFZP586O1422, KIAA0313	uc003iqg.4	Q9Y4G8		ENST00000264431.4:c.2516A>T	4.37:g.160264211A>T	ENSP00000264431:p.Asp839Val						p.D839V	NM_014247	NP_055062	Q9Y4G8	RPGF2_HUMAN		COAD - Colon adenocarcinoma(41;0.0817)	15	2826	+	all_hematologic(180;0.24)		839			Ras-GEF.		D3DP27	Missense_Mutation	SNP	ENST00000264431.4	37	c.2516A>T	CCDS43277.1	.	.	.	.	.	.	.	.	.	.	A	27.2	4.808008	0.90707	.	.	ENSG00000109756	ENST00000264431	T	0.34472	1.36	5.82	5.82	0.92795	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	T	0.60869	0.2302	M	0.71206	2.165	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.64478	-0.6398	10	0.87932	D	0	.	16.1761	0.81851	1.0:0.0:0.0:0.0	.	839	Q9Y4G8	RPGF2_HUMAN	V	839	ENSP00000264431:D839V	ENSP00000264431:D839V	D	+	2	0	RAPGEF2	160483661	1.000000	0.71417	0.999000	0.59377	0.984000	0.73092	9.235000	0.95353	2.215000	0.71742	0.459000	0.35465	GAT		0.418	RAPGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364980.2	NM_014247		5	37	0	0	0	0.000602	0	5	37				
NPY5R	4889	broad.mit.edu	37	4	164271759	164271759	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr4:164271759G>T	ENST00000515560.1	+	4	1856	c.334G>T	c.(334-336)Gtc>Ttc	p.V112F	NPY5R_ENST00000506953.1_Missense_Mutation_p.V112F|NPY5R_ENST00000338566.3_Missense_Mutation_p.V112F			Q15761	NPY5R_HUMAN	neuropeptide Y receptor Y5	112					cardiac left ventricle morphogenesis (GO:0003214)|eating behavior (GO:0042755)|G-protein coupled receptor signaling pathway (GO:0007186)|generation of ovulation cycle rhythm (GO:0060112)|negative regulation of apoptotic process (GO:0043066)|negative regulation of glutamate secretion (GO:0014050)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|neuropeptide signaling pathway (GO:0007218)|outflow tract morphogenesis (GO:0003151)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of smooth muscle cell proliferation (GO:0048661)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)|pancreatic polypeptide receptor activity (GO:0001602)|peptide YY receptor activity (GO:0001601)	p.V112F(1)		NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_hematologic(180;0.166)	Prostate(90;0.109)				GTTTGGCAAAGTCATGTGCCA	0.383																																					Melanoma(139;1287 1774 9781 19750 25599)	Melanoma(139;1287 1774 9781 19750 25599)	uc003iqn.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(6)|skin(1)	7						c.(334-336)GTC>TTC		neuropeptide Y receptor Y5							299.0	288.0	292.0					4																	164271759		2203	4300	6503	SO:0001583	missense	4889				cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane		g.chr4:164271759G>T	BC042416	CCDS3804.1	4q31-q32	2012-08-08				ENSG00000164129		"""GPCR / Class A : Neuropeptide receptors : Y"""	7958	protein-coding gene	gene with protein product		602001				8700207, 9417917	Standard	NM_006174		Approved	NPYR5	uc003iqn.3	Q15761		ENST00000515560.1:c.334G>T	4.37:g.164271759G>T	ENSP00000423917:p.Val112Phe						p.V112F	NM_006174	NP_006165	Q15761	NPY5R_HUMAN			4	516	+	all_hematologic(180;0.166)	Prostate(90;0.109)	112			Extracellular (Potential).		Q6GTR7|Q92916	Missense_Mutation	SNP	ENST00000515560.1	37	c.334G>T	CCDS3804.1	.	.	.	.	.	.	.	.	.	.	G	13.96	2.394409	0.42410	.	.	ENSG00000164129	ENST00000338566;ENST00000515560;ENST00000506953	T;T;T	0.72615	-0.67;-0.67;-0.67	5.12	4.22	0.49857	GPCR, rhodopsin-like superfamily (1);	0.247012	0.26757	N	0.022658	T	0.57755	0.2075	L	0.35487	1.065	0.36970	D	0.893773	B	0.19331	0.035	B	0.19666	0.026	T	0.59542	-0.7435	10	0.34782	T	0.22	.	10.6683	0.45743	0.0751:0.1338:0.7911:0.0	.	112	Q15761	NPY5R_HUMAN	F	112	ENSP00000339377:V112F;ENSP00000423917:V112F;ENSP00000423474:V112F	ENSP00000339377:V112F	V	+	1	0	NPY5R	164491209	0.850000	0.29656	0.967000	0.41034	0.970000	0.65996	1.070000	0.30653	2.533000	0.85409	0.591000	0.81541	GTC		0.383	NPY5R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364633.1	NM_006174		25	198	1	0	4.4004e-07	0.00333	5.45116e-07	25	198				
GALNT7	51809	broad.mit.edu	37	4	174169425	174169425	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr4:174169425G>C	ENST00000265000.4	+	2	504	c.421G>C	c.(421-423)Gag>Cag	p.E141Q	GALNT7_ENST00000512285.1_Missense_Mutation_p.E141Q	NM_017423.2	NP_059119.2	Q86SF2	GALT7_HUMAN	polypeptide N-acetylgalactosaminyltransferase 7	141					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.E141Q(1)		central_nervous_system(1)|kidney(3)|large_intestine(5)|liver(1)|lung(9)	19		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;1.87e-18)|Epithelial(43;3.44e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-09)|STAD - Stomach adenocarcinoma(60;0.0019)|GBM - Glioblastoma multiforme(59;0.0119)|LUSC - Lung squamous cell carcinoma(193;0.0199)		CAAAGAACCTGAGCCTCCTGG	0.493																																							uc003isz.3		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(421-423)GAG>CAG		polypeptide N-acetylgalactosaminyltransferase 7							86.0	91.0	89.0					4																	174169425		2203	4300	6503	SO:0001583	missense	51809				protein O-linked glycosylation	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr4:174169425G>C	AJ002744	CCDS3815.1	4q31.1	2014-03-13	2014-03-13		ENSG00000109586	ENSG00000109586		"""Glycosyltransferase family 2 domain containing"""	4129	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 7"""	605005	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 7 (GalNAc-T7)"""			10544240	Standard	NM_017423		Approved	GALNAC-T7	uc003isz.4	Q86SF2	OTTHUMG00000160817	ENST00000265000.4:c.421G>C	4.37:g.174169425G>C	ENSP00000265000:p.Glu141Gln						p.E141Q	NM_017423	NP_059119	Q86SF2	GALT7_HUMAN		all cancers(43;1.87e-18)|Epithelial(43;3.44e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-09)|STAD - Stomach adenocarcinoma(60;0.0019)|GBM - Glioblastoma multiforme(59;0.0119)|LUSC - Lung squamous cell carcinoma(193;0.0199)	2	504	+		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)	141			Lumenal (Potential).		B3KQU3|Q7Z5W7|Q9UJ28	Missense_Mutation	SNP	ENST00000265000.4	37	c.421G>C	CCDS3815.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.736317	0.89482	.	.	ENSG00000109586	ENST00000265000;ENST00000512285	T;T	0.55588	0.51;1.54	5.93	5.93	0.95920	.	0.091521	0.85682	N	0.000000	T	0.64681	0.2620	L	0.38838	1.175	0.80722	D	1	D	0.69078	0.997	D	0.75484	0.986	T	0.55114	-0.8191	10	0.21540	T	0.41	.	20.3539	0.98825	0.0:0.0:1.0:0.0	.	141	Q86SF2	GALT7_HUMAN	Q	141	ENSP00000265000:E141Q;ENSP00000427050:E141Q	ENSP00000265000:E141Q	E	+	1	0	GALNT7	174406000	1.000000	0.71417	0.992000	0.48379	0.834000	0.47266	9.869000	0.99810	2.826000	0.97356	0.655000	0.94253	GAG		0.493	GALNT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362456.2	NM_017423		25	46	0	0	0	0.003954	0	25	46				
ADAM29	11086	broad.mit.edu	37	4	175898483	175898483	+	Nonsense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr4:175898483G>T	ENST00000359240.3	+	5	2477	c.1807G>T	c.(1807-1809)Gag>Tag	p.E603*	RP13-577H12.2_ENST00000507525.1_RNA|ADAM29_ENST00000404450.4_Nonsense_Mutation_p.E603*|ADAM29_ENST00000514159.1_Nonsense_Mutation_p.E603*|ADAM29_ENST00000445694.1_Nonsense_Mutation_p.E603*	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	603	Cys-rich.				spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.E603*(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		AGATGGAACAGAGTGTGGGAT	0.433																																					Ovarian(140;1727 1835 21805 25838 41440)	Ovarian(140;1727 1835 21805 25838 41440)	uc003iuc.2		NA																	1	Substitution - Nonsense(1)		lung(1)	skin(5)|central_nervous_system(3)|ovary(3)|large_intestine(2)|lung(2)|pancreas(1)	16						c.(1807-1809)GAG>TAG		ADAM metallopeptidase domain 29 preproprotein							198.0	175.0	182.0					4																	175898483		2203	4300	6503	SO:0001587	stop_gained	11086				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	g.chr4:175898483G>T	AF171929	CCDS3823.1	4q34.1	2012-05-16	2005-08-18		ENSG00000168594	ENSG00000168594		"""ADAM metallopeptidase domain containing"""	207	protein-coding gene	gene with protein product	"""cancer/testis antigen 73"""	604778	"""a disintegrin and metalloproteinase domain 29"""			10644455	Standard	NM_014269		Approved	svph1, CT73	uc031shw.1	Q9UKF5	OTTHUMG00000160764	ENST00000359240.3:c.1807G>T	4.37:g.175898483G>T	ENSP00000352177:p.Glu603*					ADAM29_uc003iud.2_Nonsense_Mutation_p.E603*|ADAM29_uc010irr.2_Nonsense_Mutation_p.E603*|ADAM29_uc011cki.1_Nonsense_Mutation_p.E603*	p.E603*	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)	5	2477	+		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	603			Cys-rich.|Extracellular (Potential).		Q4W5F3|Q9UHP1|Q9UKF3|Q9UKF4	Nonsense_Mutation	SNP	ENST00000359240.3	37	c.1807G>T	CCDS3823.1	.	.	.	.	.	.	.	.	.	.	G	39	7.597950	0.98381	.	.	ENSG00000168594	ENST00000359240;ENST00000445694;ENST00000404450;ENST00000514159	.	.	.	3.69	1.96	0.26148	.	0.444700	0.16387	U	0.216654	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.685	0.17797	0.3444:0.0:0.6556:0.0	.	.	.	.	X	603	.	.	E	+	1	0	ADAM29	176135058	0.000000	0.05858	1.000000	0.80357	0.547000	0.35210	-0.146000	0.10250	0.540000	0.28808	0.643000	0.83706	GAG		0.433	ADAM29-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding				26	134	1	0	4.43304e-23	0.00632	7.96232e-23	26	134				
TENM3	55714	broad.mit.edu	37	4	183601430	183601430	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr4:183601430C>A	ENST00000511685.1	+	9	1690	c.1567C>A	c.(1567-1569)Cat>Aat	p.H523N	TENM3_ENST00000406950.2_Missense_Mutation_p.H523N			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	523	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.H523N(1)									CCGAAATTGCCATGGAAATGG	0.423																																							uc003ivd.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1567-1569)CAT>AAT		odz, odd Oz/ten-m homolog 3							138.0	126.0	129.0					4																	183601430		1876	4114	5990	SO:0001583	missense	55714				signal transduction	integral to membrane		g.chr4:183601430C>A	AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"""odz, odd Oz/ten-m homolog 3 (Drosophila)"""	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.1567C>A	4.37:g.183601430C>A	ENSP00000424226:p.His523Asn					ODZ3_uc003ive.1_5'UTR	p.H523N	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)	8	1604	+		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)	523			Extracellular (Potential).|EGF-like 1.		Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Missense_Mutation	SNP	ENST00000511685.1	37	c.1567C>A	CCDS47165.1	.	.	.	.	.	.	.	.	.	.	C	9.046	0.990997	0.18966	.	.	ENSG00000218336	ENST00000511685;ENST00000406950	T;T	0.04275	3.66;3.66	5.37	5.37	0.77165	EGF, extracellular (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	.	.	.	.	T	0.02688	0.0081	N	0.02685	-0.53	0.48571	D	0.999676	B	0.17667	0.023	B	0.15870	0.014	T	0.50004	-0.8878	9	0.07813	T	0.8	.	19.3071	0.94167	0.0:1.0:0.0:0.0	.	523	Q9P273	TEN3_HUMAN	N	523	ENSP00000424226:H523N;ENSP00000385276:H523N	ENSP00000385276:H523N	H	+	1	0	ODZ3	183838424	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	3.439000	0.52878	2.793000	0.96121	0.563000	0.77884	CAT		0.423	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1			16	20	1	0	3.51602e-12	0.008871	5.25346e-12	16	20				
CASP3	836	broad.mit.edu	37	4	185552920	185552920	+	Splice_Site	SNP	T	T	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr4:185552920T>A	ENST00000308394.4	-	6	744	c.482A>T	c.(481-483)cAg>cTg	p.Q161L	CASP3_ENST00000393588.4_Splice_Site_p.Q161L|CASP3_ENST00000523916.1_Splice_Site_p.Q161L|CASP3_ENST00000393585.2_Splice_Site_p.Q161L|CASP3_ENST00000517513.1_Splice_Site_p.Q161L	NM_004346.3	NP_004337.2	P42574	CASP3_HUMAN	caspase 3, apoptosis-related cysteine peptidase	161					activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell homeostasis (GO:0001782)|cell fate commitment (GO:0045165)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|erythrocyte differentiation (GO:0030218)|execution phase of apoptosis (GO:0097194)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|glial cell apoptotic process (GO:0034349)|heart development (GO:0007507)|hippo signaling (GO:0035329)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|keratinocyte differentiation (GO:0030216)|negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of apoptotic process (GO:0043066)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|neuron apoptotic process (GO:0051402)|neuron differentiation (GO:0030182)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet formation (GO:0030220)|positive regulation of apoptotic process (GO:0043065)|positive regulation of neuron apoptotic process (GO:0043525)|proteolysis (GO:0006508)|regulation of apoptotic DNA fragmentation (GO:1902510)|regulation of apoptotic process (GO:0042981)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|release of cytochrome c from mitochondria (GO:0001836)|response to tumor necrosis factor (GO:0034612)|response to UV (GO:0009411)|response to wounding (GO:0009611)|sensory perception of sound (GO:0007605)|T cell homeostasis (GO:0043029)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	aspartic-type endopeptidase activity (GO:0004190)|cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)|cysteine-type endopeptidase activity involved in execution phase of apoptosis (GO:0097200)|peptidase activity (GO:0008233)	p.Q161L(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)	12		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00139)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.057)|all_hematologic(60;0.0592)		all cancers(43;2.05e-27)|Epithelial(43;4.27e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.04e-11)|Colorectal(24;2e-05)|STAD - Stomach adenocarcinoma(60;2.35e-05)|GBM - Glioblastoma multiforme(59;4.94e-05)|COAD - Colon adenocarcinoma(29;0.00017)|BRCA - Breast invasive adenocarcinoma(30;0.000218)|LUSC - Lung squamous cell carcinoma(40;0.00904)|READ - Rectum adenocarcinoma(43;0.161)	Minocycline(DB01017)	AGACATTACCTGAATAATGAA	0.338																																							uc003iwh.2		NA																	1	Substitution - Missense(1)		lung(1)	kidney(1)	1						c.(481-483)CAG>CTG		caspase 3 preproprotein	Melatonin(DB01065)|Minocycline(DB01017)|Simvastatin(DB00641)						58.0	57.0	58.0					4																	185552920		2203	4300	6503	SO:0001630	splice_region_variant	836				activation of caspase activity by cytochrome c|DNA fragmentation involved in apoptotic nuclear change|negative regulation of apoptosis|nerve growth factor receptor signaling pathway|nuclear fragmentation involved in apoptotic nuclear change|proteolysis|response to tumor necrosis factor	cytosol|mitochondrion|nucleoplasm|plasma membrane	cysteine-type endopeptidase activity|protein binding	g.chr4:185552920T>A	BC016926	CCDS3836.1	4q34	2008-02-05	2005-08-17		ENSG00000164305	ENSG00000164305		"""Caspases"""	1504	protein-coding gene	gene with protein product		600636	"""caspase 3, apoptosis-related cysteine protease"""			8780721	Standard	NM_004346		Approved	CPP32, CPP32B, Yama, apopain	uc003iwi.3	P42574	OTTHUMG00000133681	ENST00000308394.4:c.483+1A>T	4.37:g.185552920T>A						CASP3_uc003iwg.2_Missense_Mutation_p.Q161L|CASP3_uc003iwi.2_Missense_Mutation_p.Q161L	p.Q161L	NM_004346	NP_004337	P42574	CASP3_HUMAN		all cancers(43;2.05e-27)|Epithelial(43;4.27e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.04e-11)|Colorectal(24;2e-05)|STAD - Stomach adenocarcinoma(60;2.35e-05)|GBM - Glioblastoma multiforme(59;4.94e-05)|COAD - Colon adenocarcinoma(29;0.00017)|BRCA - Breast invasive adenocarcinoma(30;0.000218)|LUSC - Lung squamous cell carcinoma(40;0.00904)|READ - Rectum adenocarcinoma(43;0.161)	6	745	-		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00139)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.057)|all_hematologic(60;0.0592)	161					A8K5M2|D3DP53|Q96AN1|Q96KP2	Missense_Mutation	SNP	ENST00000308394.4	37	c.482A>T	CCDS3836.1	.	.	.	.	.	.	.	.	.	.	T	29.5	5.007453	0.93287	.	.	ENSG00000164305	ENST00000308394;ENST00000393585;ENST00000523916;ENST00000517513;ENST00000393588	T;T;T;T;T	0.27256	1.68;1.68;1.68;1.68;1.68	5.74	5.74	0.90152	Peptidase C14, caspase catalytic (1);Peptidase C14, caspase precursor p45, core (2);Peptidase C14, ICE, catalytic subunit p20 (1);	0.000000	0.85682	D	0.000000	T	0.72732	0.3497	H	0.99806	4.795	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.969;0.998	D	0.86411	0.1748	10	0.87932	D	0	.	16.0347	0.80617	0.0:0.0:0.0:1.0	.	161;161	P42574;A8MVM1	CASP3_HUMAN;.	L	161	ENSP00000311032:Q161L;ENSP00000377210:Q161L;ENSP00000428929:Q161L;ENSP00000428372:Q161L;ENSP00000377213:Q161L	ENSP00000311032:Q161L	Q	-	2	0	CASP3	185789914	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	8.004000	0.88535	2.194000	0.70268	0.459000	0.35465	CAG		0.338	CASP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257885.2	NM_004346	Missense_Mutation	5	45	0	0	0	0.000602	0	5	45				
SORBS2	8470	broad.mit.edu	37	4	186541230	186541230	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr4:186541230G>A	ENST00000284776.7	-	14	3088	c.2579C>T	c.(2578-2580)aCt>aTt	p.T860I	SORBS2_ENST00000319471.9_Missense_Mutation_p.T491I|SORBS2_ENST00000431808.1_Missense_Mutation_p.T860I|SORBS2_ENST00000498125.1_5'UTR|SORBS2_ENST00000437304.2_Missense_Mutation_p.T584I|SORBS2_ENST00000393528.3_Missense_Mutation_p.T426I|SORBS2_ENST00000449407.2_Missense_Mutation_p.T404I|SORBS2_ENST00000448662.2_Missense_Mutation_p.T421I|SORBS2_ENST00000418609.1_Missense_Mutation_p.T764I|SORBS2_ENST00000355634.5_Missense_Mutation_p.T960I	NM_021069.4	NP_066547.1	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	860					actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|cell migration (GO:0016477)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)	p.T426I(1)|p.T421I(1)|p.T860I(1)|p.T584I(1)		endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		TTTTTCTGGAGTTCCTCTTCT	0.438																																					Esophageal Squamous(153;41 2433 9491 36028)	Esophageal Squamous(153;41 2433 9491 36028)	uc003iyl.2		NA																	4	Substitution - Missense(4)		lung(4)	ovary(1)	1						c.(2578-2580)ACT>ATT		sorbin and SH3 domain containing 2 isoform 2							239.0	244.0	243.0					4																	186541230		2203	4300	6503	SO:0001583	missense	8470					actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chr4:186541230G>A		CCDS3845.1, CCDS43289.2, CCDS47173.1, CCDS47174.1, CCDS47175.1, CCDS47176.1, CCDS54825.1, CCDS59482.1	4q35.1	2008-02-05			ENSG00000154556	ENSG00000154556			24098	protein-coding gene	gene with protein product	"""Arg/Abl interacting protein"""					9211900, 9872452	Standard	NM_021069		Approved	ARGBP2, KIAA0777	uc003iym.3	O94875	OTTHUMG00000157215	ENST00000284776.7:c.2579C>T	4.37:g.186541230G>A	ENSP00000284776:p.Thr860Ile					SORBS2_uc003iyh.2_Missense_Mutation_p.T584I|SORBS2_uc011ckw.1_Missense_Mutation_p.T421I|SORBS2_uc003iyi.2_Missense_Mutation_p.T491I|SORBS2_uc011ckx.1_Missense_Mutation_p.T426I|SORBS2_uc003iyk.2_Missense_Mutation_p.T404I|SORBS2_uc003iym.2_Missense_Mutation_p.T960I|SORBS2_uc003iyn.1_Missense_Mutation_p.T451I|SORBS2_uc011cku.1_Missense_Mutation_p.T252I|SORBS2_uc011ckv.1_Missense_Mutation_p.T764I|SORBS2_uc003iyd.2_Missense_Mutation_p.T559I|SORBS2_uc003iye.2_Missense_Mutation_p.T433I|SORBS2_uc003iya.2_Missense_Mutation_p.T380I|SORBS2_uc003iyb.2_Missense_Mutation_p.T333I|SORBS2_uc003iyc.2_Missense_Mutation_p.T313I|SORBS2_uc003iyg.2_Missense_Mutation_p.T974I|SORBS2_uc003iyf.2_Missense_Mutation_p.T396I|SORBS2_uc003iyo.1_Missense_Mutation_p.T309I	p.T860I	NM_021069	NP_066547	O94875	SRBS2_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)	14	3437	-		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)	860					A6NEK9|B3KPQ7|B7Z1G5|B7Z3X6|C9JKV9|D3DP62|D3DP63|E9PAS5|E9PAW4|G3XAI0|H7BXR4|J3KNZ5|O60592|O60593|Q96EX0	Missense_Mutation	SNP	ENST00000284776.7	37	c.2579C>T	CCDS3845.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.150828	0.78001	.	.	ENSG00000154556	ENST00000284776;ENST00000448662;ENST00000431808;ENST00000418609;ENST00000437304;ENST00000319471;ENST00000449407;ENST00000355634;ENST00000393528;ENST00000319454;ENST00000451974	T;T;T;T;T;T;T;T;T;T;T	0.38240	1.25;1.5;1.25;1.15;1.3;1.3;1.5;1.25;1.58;1.45;2.58	6.17	5.32	0.75619	Src homology-3 domain (1);	0.235989	0.49916	D	0.000130	T	0.49932	0.1586	L	0.48642	1.525	0.49483	D	0.999797	D;P;P;P;P;P;P;P;B;B;B;P;P;D	0.71674	0.998;0.841;0.921;0.611;0.745;0.825;0.954;0.846;0.306;0.18;0.183;0.573;0.688;0.998	P;P;P;B;B;P;P;B;B;B;B;B;B;P	0.62649	0.905;0.632;0.535;0.209;0.276;0.474;0.632;0.398;0.08;0.044;0.048;0.246;0.28;0.905	T	0.43261	-0.9402	10	0.62326	D	0.03	-17.3263	13.9833	0.64317	0.0715:0.0:0.9285:0.0	.	426;421;764;252;309;451;960;860;404;584;421;451;405;426	G3XAI0;C9JKV9;B7Z3X6;B7Z997;B3KPU4;O94875-4;B3KPQ7;O94875;E9PAS5;E9PAW4;B7Z1G5;O94875-5;O94875-3;O94875-2	.;.;.;.;.;.;.;SRBS2_HUMAN;.;.;.;.;.;.	I	860;421;860;764;584;491;404;960;426;451;209	ENSP00000284776:T860I;ENSP00000409158:T421I;ENSP00000411764:T860I;ENSP00000397482:T764I;ENSP00000396008:T584I;ENSP00000322182:T491I;ENSP00000397262:T404I;ENSP00000347852:T960I;ENSP00000377162:T426I;ENSP00000321983:T451I;ENSP00000401818:T209I	ENSP00000284776:T860I	T	-	2	0	SORBS2	186778224	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	3.358000	0.52284	2.941000	0.99782	0.655000	0.94253	ACT		0.438	SORBS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347944.3	NM_003603		7	324	0	0	0	0.00308	0	7	324				
TRIML1	339976	broad.mit.edu	37	4	189068508	189068508	+	Silent	SNP	A	A	C			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr4:189068508A>C	ENST00000332517.3	+	6	1529	c.1389A>C	c.(1387-1389)tcA>tcC	p.S463S	TRIML1_ENST00000507581.1_3'UTR	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	463	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				multicellular organismal development (GO:0007275)|protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.S463S(1)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		CCATCTGCTCACTGAACAGCC	0.557																																					Melanoma(31;213 1036 16579 23968 32372)	Melanoma(31;213 1036 16579 23968 32372)	uc003izm.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|pancreas(1)|breast(1)|skin(1)	4						c.(1387-1389)TCA>TCC		tripartite motif family-like 1							40.0	43.0	42.0					4																	189068508		2203	4298	6501	SO:0001819	synonymous_variant	339976				multicellular organismal development		ligase activity|zinc ion binding	g.chr4:189068508A>C	AK093499	CCDS3851.1	4q35.2	2013-01-09			ENSG00000184108	ENSG00000184108		"""RING-type (C3HC4) zinc fingers"""	26698	protein-coding gene	gene with protein product						12477932	Standard	NM_178556		Approved	FLJ36180, RNF209	uc003izm.1	Q8N9V2	OTTHUMG00000160237	ENST00000332517.3:c.1389A>C	4.37:g.189068508A>C						TRIML1_uc003izn.1_Silent_p.S187S	p.S463S	NM_178556	NP_848651	Q8N9V2	TRIML_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)	6	1504	+		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)	463			B30.2/SPRY.		Q96BE5	Silent	SNP	ENST00000332517.3	37	c.1389A>C	CCDS3851.1																																																																																				0.557	TRIML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359813.1	NM_178556		21	39	0	0	0	0.010504	0	21	39				
EXOC3	11336	broad.mit.edu	37	5	457103	457103	+	Silent	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr5:457103G>T	ENST00000512944.1	+	5	1335	c.1146G>T	c.(1144-1146)acG>acT	p.T382T	EXOC3_ENST00000315013.5_Silent_p.T382T	NM_007277.4	NP_009208.2	O60645	EXOC3_HUMAN	exocyst complex component 3	393					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|secretory granule membrane (GO:0030667)		p.T382T(1)		breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(13)|ovary(1)|urinary_tract(1)	23		Ovarian(839;0.0563)	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			TGCTTGACACGTACATGTCCA	0.587																																							uc003jba.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(1144-1146)ACG>ACT		Sec6 protein							80.0	82.0	81.0					5																	457103		2124	4223	6347	SO:0001819	synonymous_variant	11336				exocytosis|protein transport			g.chr5:457103G>T	BC034427	CCDS54830.1	5p15.33	2013-01-22	2005-11-01	2005-11-01	ENSG00000180104	ENSG00000180104			30378	protein-coding gene	gene with protein product		608186	"""SEC6-like 1 (S. cerevisiae)"""	SEC6L1		8619474	Standard	XM_005248238		Approved	Sec6p	uc003jba.3	O60645	OTTHUMG00000162205	ENST00000512944.1:c.1146G>T	5.37:g.457103G>T							p.T382T	NM_007277	NP_009208	O60645	EXOC3_HUMAN	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)		5	1274	+		Ovarian(839;0.0563)	393					Q6P2E8|Q8TEN6|Q8WUW0|Q96DI4	Silent	SNP	ENST00000512944.1	37	c.1146G>T	CCDS54830.1																																																																																				0.587	EXOC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367882.1	NM_007277		21	22	1	0	5.26018e-13	0.001882	8.05982e-13	21	22				
ICE1	23379	broad.mit.edu	37	5	5461256	5461256	+	Silent	SNP	T	T	C			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr5:5461256T>C	ENST00000296564.7	+	13	2031	c.1809T>C	c.(1807-1809)acT>acC	p.T603T		NM_015325.2	NP_056140.1	Q9Y2F5	ICE1_HUMAN		603					positive regulation of intracellular protein transport (GO:0090316)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	protein homodimerization activity (GO:0042803)	p.T603T(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						AAGGGTTCACTTTAGGAGAAT	0.408																																							uc003jdm.3		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)|central_nervous_system(1)	2						c.(1807-1809)ACT>ACC		hypothetical protein LOC23379							100.0	100.0	100.0					5																	5461256		1880	4108	5988	SO:0001819	synonymous_variant	23379							g.chr5:5461256T>C																												ENST00000296564.7:c.1809T>C	5.37:g.5461256T>C							p.T603T	NM_015325	NP_056140	Q9Y2F5	K0947_HUMAN			13	2031	+			603					Q68DE1|Q6ZT40|Q7L587|Q7Z3A9|Q9NTH9	Silent	SNP	ENST00000296564.7	37	c.1809T>C	CCDS47187.1																																																																																				0.408	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365575.1			44	92	0	0	0	0.002522	0	44	92				
FAM173B	134145	broad.mit.edu	37	5	10227695	10227695	+	Missense_Mutation	SNP	C	C	G			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr5:10227695C>G	ENST00000511437.1	-	5	572	c.560G>C	c.(559-561)cGg>cCg	p.R187P	FAM173B_ENST00000510047.1_Missense_Mutation_p.R170P|FAM173B_ENST00000510052.1_5'UTR|FAM173B_ENST00000280330.8_Missense_Mutation_p.R23P	NM_199133.3	NP_954584.2	Q6P4H8	F173B_HUMAN	family with sequence similarity 173, member B	187						integral component of membrane (GO:0016021)		p.R187P(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	16						GAAAGGGAACCGGCAAGCAAT	0.488																																							uc003jeo.2		NA																	1	Substitution - Missense(1)		lung(1)	kidney(1)|central_nervous_system(1)	2						c.(559-561)CGG>CCG		hypothetical protein LOC134145							120.0	115.0	117.0					5																	10227695		1974	4158	6132	SO:0001583	missense	134145					integral to membrane		g.chr5:10227695C>G		CCDS43301.1, CCDS58942.1	5p15.2	2008-08-08			ENSG00000150756	ENSG00000150756			27029	protein-coding gene	gene with protein product						12477932	Standard	NM_199133		Approved		uc003jeo.3	Q6P4H8	OTTHUMG00000161771	ENST00000511437.1:c.560G>C	5.37:g.10227695C>G	ENSP00000422338:p.Arg187Pro					FAM173B_uc003jep.2_RNA|FAM173B_uc010itr.2_Missense_Mutation_p.R170P	p.R187P	NM_199133	NP_954584	Q6P4H8	F173B_HUMAN			5	589	-			187					B4DT41|B4DXK2|E9PBZ4	Missense_Mutation	SNP	ENST00000511437.1	37	c.560G>C	CCDS43301.1	.	.	.	.	.	.	.	.	.	.	C	31	5.095334	0.94197	.	.	ENSG00000150756	ENST00000280330;ENST00000511437;ENST00000510047	T;T;T	0.21361	2.01;2.01;2.01	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	T	0.55768	0.1941	M	0.90814	3.15	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.65500	-0.6153	10	0.87932	D	0	-3.4809	17.6177	0.88072	0.0:1.0:0.0:0.0	.	170;187	E9PBZ4;Q6P4H8	.;F173B_HUMAN	P	23;187;170	ENSP00000280330:R23P;ENSP00000422338:R187P;ENSP00000420876:R170P	ENSP00000280330:R23P	R	-	2	0	FAM173B	10280695	1.000000	0.71417	0.998000	0.56505	0.892000	0.51952	6.818000	0.75257	2.571000	0.86741	0.650000	0.86243	CGG		0.488	FAM173B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000366048.2	NM_199133		11	40	0	0	0	0.001368	0	11	40				
CTNND2	1501	broad.mit.edu	37	5	11384964	11384964	+	Silent	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr5:11384964G>T	ENST00000304623.8	-	7	1179	c.990C>A	c.(988-990)cgC>cgA	p.R330R	CTNND2_ENST00000495388.2_5'Flank|CTNND2_ENST00000511377.1_Silent_p.R239R|CTNND2_ENST00000503622.1_Intron|CTNND2_ENST00000458100.2_Intron|CTNND2_ENST00000359640.2_Silent_p.R330R	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	330					cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.R330R(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GCGAGGTCACGCGGATCGGGG	0.687																																							uc003jfa.1		NA																	1	Substitution - coding silent(1)		lung(1)	large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1)	8						c.(988-990)CGC>CGA		catenin (cadherin-associated protein), delta 2							77.0	78.0	78.0					5																	11384964		2198	4298	6496	SO:0001819	synonymous_variant	1501				multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	g.chr5:11384964G>T	U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"""Armadillo repeat containing"""	2516	protein-coding gene	gene with protein product	"""neural plakophilin-related arm-repeat protein"""	604275	"""catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"""			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.990C>A	5.37:g.11384964G>T						CTNND2_uc010itt.2_Silent_p.R239R|CTNND2_uc011cmy.1_Intron|CTNND2_uc011cmz.1_Intron|CTNND2_uc010itu.1_Intron|CTNND2_uc011cmx.1_5'UTR	p.R330R	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN			7	1135	-			330					B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Silent	SNP	ENST00000304623.8	37	c.990C>A	CCDS3881.1																																																																																				0.687	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206999.1	NM_001332		7	8	1	0	5.18039e-06	0.00308	6.17778e-06	7	8				
FBXL7	23194	broad.mit.edu	37	5	15616169	15616169	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr5:15616169G>C	ENST00000504595.1	+	2	596	c.115G>C	c.(115-117)Gct>Cct	p.A39P	FBXL7_ENST00000329673.7_Missense_Mutation_p.A27P|FBXL7_ENST00000510662.1_5'UTR	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	39					cell proliferation (GO:0008283)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|ubiquitin-dependent protein catabolic process (GO:0006511)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)	p.A39P(1)		cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						GAAGAATGTGGCTACCAGCGA	0.473																																							uc003jfn.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)	3						c.(115-117)GCT>CCT		F-box and leucine-rich repeat protein 7							84.0	85.0	84.0					5																	15616169		1979	4171	6150	SO:0001583	missense	23194				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr5:15616169G>C	AB020647	CCDS54833.1, CCDS64129.1	5p15.1	2011-06-09				ENSG00000183580		"""F-boxes / Leucine-rich repeats"""	13604	protein-coding gene	gene with protein product		605656				10048485, 10531035	Standard	NM_012304		Approved	KIAA0840, FBL7, FBL6	uc003jfn.1	Q9UJT9		ENST00000504595.1:c.115G>C	5.37:g.15616169G>C	ENSP00000423630:p.Ala39Pro						p.A39P	NM_012304	NP_036436	Q9UJT9	FBXL7_HUMAN			2	596	+			39					B9EGF1|D6RDY7|O94926	Missense_Mutation	SNP	ENST00000504595.1	37	c.115G>C	CCDS54833.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.929321	0.92389	.	.	ENSG00000183580	ENST00000504595;ENST00000329673	T;T	0.11277	2.79;2.8	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	T	0.20455	0.0492	N	0.24115	0.695	0.80722	D	1	D	0.71674	0.998	D	0.77557	0.99	T	0.07966	-1.0745	10	0.13853	T	0.58	.	19.5289	0.95219	0.0:0.0:1.0:0.0	.	39	Q9UJT9	FBXL7_HUMAN	P	39;27	ENSP00000423630:A39P;ENSP00000329632:A27P	ENSP00000329632:A27P	A	+	1	0	FBXL7	15669169	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.605000	0.82844	2.865000	0.98341	0.655000	0.94253	GCT		0.473	FBXL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366117.1	NM_012304		10	25	0	0	0	0.008291	0	10	25				
CDH18	1016	broad.mit.edu	37	5	19473591	19473591	+	Missense_Mutation	SNP	G	G	T	rs368650801		TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr5:19473591G>T	ENST00000507958.1	-	15	3107	c.2117C>A	c.(2116-2118)aCc>aAc	p.T706N	CDH18_ENST00000382275.1_Missense_Mutation_p.T706N|CDH18_ENST00000274170.4_Missense_Mutation_p.T706N|CDH18_ENST00000510297.1_5'UTR			Q13634	CAD18_HUMAN	cadherin 18, type 2	706					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.T706N(2)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					GCTTTCCAGGGTGGATGATGT	0.493																																							uc003jgc.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(5)|large_intestine(1)|skin(1)	7						c.(2116-2118)ACC>AAC		cadherin 18, type 2 preproprotein							187.0	163.0	171.0					5																	19473591		2203	4300	6503	SO:0001583	missense	1016				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:19473591G>T	U59325	CCDS3889.1, CCDS54835.1, CCDS75229.1	5p14.3	2010-01-26			ENSG00000145526	ENSG00000145526		"""Cadherins / Major cadherins"""	1757	protein-coding gene	gene with protein product		603019				9030594, 10191097	Standard	NM_004934		Approved	CDH14, EY-CADHERIN	uc003jgd.3	Q13634	OTTHUMG00000090578	ENST00000507958.1:c.2117C>A	5.37:g.19473591G>T	ENSP00000425093:p.Thr706Asn					CDH18_uc003jgd.2_Missense_Mutation_p.T706N|CDH18_uc011cnm.1_3'UTR	p.T706N	NM_004934	NP_004925	Q13634	CAD18_HUMAN			12	2494	-	Lung NSC(1;0.00734)|all_lung(1;0.0197)		706			Cytoplasmic (Potential).		A8K0I2|B4DHG6|Q8N5Z2	Missense_Mutation	SNP	ENST00000507958.1	37	c.2117C>A	CCDS3889.1	.	.	.	.	.	.	.	.	.	.	G	11.09	1.537169	0.27475	.	.	ENSG00000145526	ENST00000382275;ENST00000507958;ENST00000542864;ENST00000274170	T;T;T	0.77098	-1.07;-1.07;-1.07	6.01	6.01	0.97437	Cadherin, cytoplasmic domain (1);	3.492290	0.00575	N	0.000310	T	0.71904	0.3395	N	0.16790	0.44	0.29795	N	0.832911	B	0.23806	0.091	B	0.28784	0.094	T	0.53892	-0.8374	9	.	.	.	.	15.4837	0.75548	0.0:0.1388:0.8612:0.0	.	706	Q13634	CAD18_HUMAN	N	706	ENSP00000371710:T706N;ENSP00000425093:T706N;ENSP00000274170:T706N	.	T	-	2	0	CDH18	19509348	0.963000	0.33076	0.998000	0.56505	0.442000	0.32017	3.485000	0.53208	2.861000	0.98227	0.650000	0.86243	ACC		0.493	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366747.1	NM_004934		19	49	1	0	1.56452e-12	0.007413	2.3653e-12	19	49				
GUSBP1	728411	broad.mit.edu	37	5	21459682	21459682	+	RNA	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr5:21459682G>T	ENST00000607545.1	+	0	18					NR_027026.1		Q15486	GUSP1_HUMAN	glucuronidase, beta pseudogene 1						carbohydrate metabolic process (GO:0005975)|nervous system development (GO:0007399)|skeletal system development (GO:0001501)		hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)										GAGCGCTCTGGGCCCAGCGAA	0.637											OREG0016459	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc010iub.2		NA																	0					0						c.(13-15)GGG>GTG		SubName: Full=Putative uncharacterized protein GUSBL2;																																						728411							g.chr5:21459682G>T	BC064850, X75940		5p14.3	2012-10-04			ENSG00000183666	ENSG00000183666			13670	pseudogene	pseudogene						8565635	Standard	NR_027026		Approved		uc010iub.3	Q15486	OTTHUMG00000162474		5.37:g.21459682G>T			OREG0016459	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	748	GUSBP1_uc011cnn.1_Intron|GUSBP1_uc003jgh.3_RNA|GUSBP1_uc003jgf.3_Missense_Mutation_p.G5V|GUSBP1_uc003jgg.3_RNA	p.G5V	NR_027028						1	94	+								A6NLY8|A8K1B7|Q969T8|Q9BUH2	Missense_Mutation	SNP	ENST00000607545.1	37	c.14G>T																																																																																					0.637	GUSBP1-006	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000470546.1	NG_008324		12	123	1	0	4.36969e-10	0.001855	6.07595e-10	12	123				
EGFLAM	133584	broad.mit.edu	37	5	38338879	38338879	+	Missense_Mutation	SNP	C	C	A	rs74624102	byFrequency	TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr5:38338879C>A	ENST00000354891.3	+	3	633	c.287C>A	c.(286-288)aCc>aAc	p.T96N	EGFLAM_ENST00000322350.5_Missense_Mutation_p.T96N	NM_001205301.1	NP_001192230.1	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	96	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				extracellular matrix organization (GO:0030198)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|cell junction (GO:0030054)|interstitial matrix (GO:0005614)|synapse (GO:0045202)	glycosaminoglycan binding (GO:0005539)	p.T96N(2)		NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					GACATCCCGACCACGGTGAGT	0.522																																					Colon(62;485 1295 3347 17454)	Colon(62;485 1295 3347 17454)	uc003jlc.1		NA																	2	Substitution - Missense(2)		lung(2)	pancreas(3)|skin(3)|ovary(1)	7						c.(286-288)ACC>AAC		EGF-like, fibronectin type III and laminin G							67.0	62.0	64.0					5																	38338879		2203	4300	6503	SO:0001583	missense	133584					cell junction|proteinaceous extracellular matrix|synapse		g.chr5:38338879C>A	AK097549	CCDS3924.1, CCDS3925.1, CCDS47199.1, CCDS56363.1	5p13.2-p13.1	2014-04-03			ENSG00000164318	ENSG00000164318		"""Fibronectin type III domain containing"""	26810	protein-coding gene	gene with protein product	"""pikachurin"", ""agrin-like"""					18641643, 20078962, 22760553	Standard	NM_182801		Approved	FLJ39155, AGRINL, AGRNL, PIKA	uc003jlc.2	Q63HQ2	OTTHUMG00000131139	ENST00000354891.3:c.287C>A	5.37:g.38338879C>A	ENSP00000346964:p.Thr96Asn					EGFLAM_uc003jlb.1_Missense_Mutation_p.T96N	p.T96N	NM_152403	NP_689616	Q63HQ2	EGFLA_HUMAN			3	611	+	all_lung(31;0.000385)		96			Fibronectin type-III 1.		A8K6D7|Q5U643|Q6P3V1|Q8N124|Q8N197|Q8N7Y0|Q8N8N5|Q8NAL2	Missense_Mutation	SNP	ENST00000354891.3	37	c.287C>A	CCDS56363.1	.	.	.	.	.	.	.	.	.	.	C	10.94	1.494133	0.26774	.	.	ENSG00000164318	ENST00000354891;ENST00000322350	T;T	0.60424	0.19;0.19	5.53	0.817	0.18773	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.905120	0.09404	N	0.806793	T	0.45013	0.1321	L	0.48986	1.54	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.09377	0.004;0.003	T	0.40534	-0.9558	10	0.45353	T	0.12	-4.0506	1.3062	0.02089	0.1713:0.3759:0.2395:0.2133	.	96;96	Q63HQ2;Q63HQ2-2	EGFLA_HUMAN;.	N	96	ENSP00000346964:T96N;ENSP00000313084:T96N	ENSP00000313084:T96N	T	+	2	0	EGFLAM	38374636	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.101000	0.10973	0.201000	0.20466	-0.119000	0.15052	ACC		0.522	EGFLAM-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367323.1	NM_152403		10	21	1	0	3.86212e-05	0.008291	4.42498e-05	10	21				
LIFR	3977	broad.mit.edu	37	5	38493779	38493779	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr5:38493779G>T	ENST00000263409.4	-	14	2156	c.1994C>A	c.(1993-1995)tCt>tAt	p.S665Y	LIFR_ENST00000503088.1_5'UTR|LIFR_ENST00000453190.2_Missense_Mutation_p.S665Y	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	665	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell surface receptor signaling pathway (GO:0007166)|ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|leukemia inhibitory factor signaling pathway (GO:0048861)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of cell proliferation (GO:0008284)|response to cytokine (GO:0034097)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor binding (GO:0019838)|leukemia inhibitory factor receptor activity (GO:0004923)	p.S665Y(2)		NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					TTCCGACCGAGACGAGTTACA	0.438			T	PLAG1	salivary adenoma																																Melanoma(13;4 730 6426 9861 34751)	Melanoma(13;4 730 6426 9861 34751)	uc010ive.1		NA		Dom	yes		5	5p13-p12	3977	T	leukemia inhibitory factor receptor			E	PLAG1		salivary adenoma		2	Substitution - Missense(2)		lung(2)	ovary(3)|large_intestine(1)	4						c.(1993-1995)TCT>TAT		leukemia inhibitory factor receptor precursor							178.0	158.0	165.0					5																	38493779		2203	4300	6503	SO:0001583	missense	3977				positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity	g.chr5:38493779G>T	X61615	CCDS3927.1	5p13-p12	2013-02-11	2006-05-17		ENSG00000113594	ENSG00000113594		"""CD molecules"", ""Fibronectin type III domain containing"""	6597	protein-coding gene	gene with protein product		151443	"""leukemia inhibitory factor receptor"""			1915266	Standard	NM_001127671		Approved	CD118	uc003jli.2	P42702	OTTHUMG00000131138	ENST00000263409.4:c.1994C>A	5.37:g.38493779G>T	ENSP00000263409:p.Ser665Tyr					LIFR_uc003jli.2_Missense_Mutation_p.S665Y	p.S665Y	NM_001127671	NP_001121143	P42702	LIFR_HUMAN			14	2326	-	all_lung(31;0.00021)		665			Fibronectin type-III 5.|Extracellular (Potential).		Q6LCD9	Missense_Mutation	SNP	ENST00000263409.4	37	c.1994C>A	CCDS3927.1	.	.	.	.	.	.	.	.	.	.	G	18.66	3.671697	0.67928	.	.	ENSG00000113594	ENST00000263409;ENST00000453190	T;T	0.55930	0.49;0.49	5.68	5.68	0.88126	Fibronectin, type III (1);	0.394066	0.30999	N	0.008460	T	0.59824	0.2222	L	0.43923	1.385	0.23282	N	0.997984	D	0.71674	0.998	P	0.60173	0.87	T	0.54853	-0.8231	10	0.07482	T	0.82	-21.4605	19.1431	0.93452	0.0:0.0:1.0:0.0	.	665	P42702	LIFR_HUMAN	Y	665	ENSP00000263409:S665Y;ENSP00000398368:S665Y	ENSP00000263409:S665Y	S	-	2	0	LIFR	38529536	0.935000	0.31712	0.043000	0.18650	0.493000	0.33554	6.084000	0.71335	2.838000	0.97847	0.591000	0.81541	TCT		0.438	LIFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253823.1	NM_002310		36	169	1	0	3.6622e-26	0.003755	6.68351e-26	36	169				
C7	730	broad.mit.edu	37	5	40950059	40950059	+	Missense_Mutation	SNP	G	G	T	rs369760989		TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr5:40950059G>T	ENST00000313164.9	+	9	1395	c.1036G>T	c.(1036-1038)Gtt>Ttt	p.V346F		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	346	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				cellular sodium ion homeostasis (GO:0006883)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)		p.V346F(1)					Ovarian(839;0.0112)				GCATTTTGTCGTTAAATTTTC	0.348																																							uc003jmh.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1036-1038)GTT>TTT		complement component 7 precursor							63.0	61.0	61.0					5																	40950059		1824	4081	5905	SO:0001583	missense	730				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex		g.chr5:40950059G>T	J03507	CCDS47201.1	5p13.1	2014-09-17			ENSG00000112936	ENSG00000112936		"""Complement system"""	1346	protein-coding gene	gene with protein product		217070					Standard	NM_000587		Approved		uc003jmh.3	P10643	OTTHUMG00000150340	ENST00000313164.9:c.1036G>T	5.37:g.40950059G>T	ENSP00000322061:p.Val346Phe					C7_uc011cpn.1_RNA	p.V346F	NM_000587	NP_000578	P10643	CO7_HUMAN			9	1150	+		Ovarian(839;0.0112)	346			MACPF.		Q6P3T5|Q92489	Missense_Mutation	SNP	ENST00000313164.9	37	c.1036G>T	CCDS47201.1	.	.	.	.	.	.	.	.	.	.	G	3.427	-0.117016	0.06838	.	.	ENSG00000112936	ENST00000313164;ENST00000440677	D	0.82526	-1.62	4.88	-5.41	0.02648	Membrane attack complex component/perforin (MACPF) domain (3);	1.917790	0.02490	N	0.089392	T	0.46658	0.1404	N	0.00116	-2.08	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.56625	-0.7948	10	0.09843	T	0.71	-2.4707	11.2549	0.49048	0.1174:0.0:0.6571:0.2255	.	346	P10643	CO7_HUMAN	F	346;186	ENSP00000322061:V346F	ENSP00000322061:V346F	V	+	1	0	C7	40985816	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.455000	0.06762	-0.507000	0.06549	-1.179000	0.01719	GTT		0.348	C7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317680.1			6	7	1	0	2.0095e-06	0.001984	2.43619e-06	6	7				
PARP8	79668	broad.mit.edu	37	5	50111265	50111265	+	Splice_Site	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr5:50111265G>T	ENST00000281631.5	+	15	1733		c.e15-1		PARP8_ENST00000505697.2_Splice_Site|PARP8_ENST00000511363.2_Splice_Site|PARP8_ENST00000514067.2_Splice_Site|PARP8_ENST00000503750.2_Splice_Site|PARP8_ENST00000514342.2_Splice_Site|PARP8_ENST00000505554.1_Splice_Site	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8							intracellular (GO:0005622)	NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.?(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				TTCTTTTGTAGCCTACCGTAT	0.353																																							uc003jon.3		NA																	1	Unknown(1)		lung(1)	lung(3)|large_intestine(1)|ovary(1)	5						c.e16-1		poly (ADP-ribose) polymerase family, member 8							123.0	115.0	118.0					5																	50111265		2203	4300	6503	SO:0001630	splice_region_variant	79668					intracellular	NAD+ ADP-ribosyltransferase activity	g.chr5:50111265G>T	AL834477	CCDS3954.1, CCDS54849.1	5q11.2	2010-02-16			ENSG00000151883	ENSG00000151883		"""Poly (ADP-ribose) polymerases"""	26124	protein-coding gene	gene with protein product						15273990	Standard	NM_001178055		Approved	FLJ21308, pART16	uc003joo.3	Q8N3A8	OTTHUMG00000096969	ENST00000281631.5:c.1576-1G>T	5.37:g.50111265G>T						PARP8_uc011cpz.1_Splice_Site_p.P418_splice|PARP8_uc003joo.2_Splice_Site_p.P526_splice|PARP8_uc003jop.2_Splice_Site_p.P526_splice	p.P526_splice	NM_024615	NP_078891	Q8N3A8	PARP8_HUMAN			16	1758	+		Lung NSC(810;0.0305)|Breast(144;0.222)						Q3KRB7|Q6DHZ1|Q9H754	Splice_Site	SNP	ENST00000281631.5	37	c.1576_splice	CCDS3954.1	.	.	.	.	.	.	.	.	.	.	G	19.65	3.868218	0.72065	.	.	ENSG00000151883	ENST00000505697;ENST00000503750;ENST00000514342;ENST00000281631;ENST00000514067;ENST00000505554;ENST00000503561;ENST00000423185	.	.	.	5.25	5.25	0.73442	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.2406	0.73468	0.0:0.0:0.859:0.141	.	.	.	.	.	-1	.	.	.	+	.	.	PARP8	50147022	1.000000	0.71417	1.000000	0.80357	0.850000	0.48378	7.188000	0.77739	2.437000	0.82529	0.650000	0.86243	.		0.353	PARP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214035.3	NM_024615	Intron	12	21	1	0	4.14922e-12	0.004007	6.17249e-12	12	21				
FST	10468	broad.mit.edu	37	5	52781807	52781807	+	Nonsense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr5:52781807G>T	ENST00000256759.3	+	6	1362	c.979G>T	c.(979-981)Gag>Tag	p.E327*	FST_ENST00000396947.3_3'UTR	NM_013409.2	NP_037541.1	P19883	FST_HUMAN	follistatin	327	Asp/Glu-rich (highly acidic).				BMP signaling pathway (GO:0030509)|female gonad development (GO:0008585)|gamete generation (GO:0007276)|hair follicle morphogenesis (GO:0031069)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinocyte proliferation (GO:0043616)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of cell differentiation (GO:0045596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|odontogenesis of dentin-containing tooth (GO:0042475)|pattern specification process (GO:0007389)|positive regulation of hair follicle development (GO:0051798)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nucleus (GO:0005634)	activin binding (GO:0048185)|signal transducer activity (GO:0004871)	p.E327*(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|urinary_tract(1)	15		Ovarian(174;1.78e-06)|Lung NSC(810;3.55e-06)|Breast(144;4.08e-05)				CGAGGAAGAGGAGGAAGATGA	0.438																																							uc003jpd.2		NA																	1	Substitution - Nonsense(1)		lung(1)		0						c.(979-981)GAG>TAG		follistatin isoform FST344 precursor							157.0	154.0	155.0					5																	52781807		2203	4300	6503	SO:0001587	stop_gained	10468				hemopoietic progenitor cell differentiation|negative regulation of activin receptor signaling pathway|negative regulation of follicle-stimulating hormone secretion|negative regulation of transcription from RNA polymerase II promoter|positive regulation of hair follicle development	extracellular region	activin binding|protein binding|signal transducer activity	g.chr5:52781807G>T	M19481	CCDS3959.1, CCDS43315.1	5q11.2	2008-02-05			ENSG00000134363	ENSG00000134363			3971	protein-coding gene	gene with protein product		136470				10411917, 3380788	Standard	NM_006350		Approved	FS	uc003jpd.3	P19883	OTTHUMG00000131183	ENST00000256759.3:c.979G>T	5.37:g.52781807G>T	ENSP00000256759:p.Glu327*					FST_uc003jpc.2_3'UTR	p.E327*	NM_013409	NP_037541	P19883	FST_HUMAN			6	1006	+		Ovarian(174;1.78e-06)|Lung NSC(810;3.55e-06)|Breast(144;4.08e-05)	327			Asp/Glu-rich (highly acidic).		B5BU94|Q9BTH0	Nonsense_Mutation	SNP	ENST00000256759.3	37	c.979G>T	CCDS3959.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.377234	0.82682	.	.	ENSG00000134363	ENST00000256759;ENST00000511025;ENST00000504226	.	.	.	6.16	6.16	0.99307	.	0.300406	0.40640	N	0.001052	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	-23.3973	20.8598	0.99761	0.0:0.0:1.0:0.0	.	.	.	.	X	327;323;198	.	ENSP00000256759:E327X	E	+	1	0	FST	52817564	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.100000	0.94213	2.937000	0.99478	0.650000	0.86243	GAG		0.438	FST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253906.1	NM_013409		36	64	1	0	3.61848e-18	0.007835	6.17376e-18	36	64				
DHX29	54505	broad.mit.edu	37	5	54567931	54567931	+	Nonsense_Mutation	SNP	T	T	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr5:54567931T>A	ENST00000251636.5	-	18	2996	c.2848A>T	c.(2848-2850)Aga>Tga	p.R950*	RP11-506H20.1_ENST00000506435.1_RNA	NM_019030.2	NP_061903.2	Q7Z478	DHX29_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 29	950	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.					eukaryotic 43S preinitiation complex (GO:0016282)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|translation initiation factor activity (GO:0003743)	p.R950*(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2)	46		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)				TCTTTTGTTCTTCCAGTATCA	0.308																																							uc003jpx.2		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(2)|central_nervous_system(1)|skin(1)	4						c.(2848-2850)AGA>TGA		DEAH (Asp-Glu-Ala-His) box polypeptide 29							46.0	49.0	48.0					5																	54567931		2198	4290	6488	SO:0001587	stop_gained	54505						ATP binding|ATP-dependent helicase activity|translation initiation factor activity	g.chr5:54567931T>A	AY036974	CCDS34158.1	5q11.2	2008-02-05	2003-06-13	2003-06-20	ENSG00000067248	ENSG00000067248		"""DEAH-boxes"""	15815	protein-coding gene	gene with protein product		612720	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 29"""	DDX29			Standard	XM_005248544		Approved		uc003jpx.3	Q7Z478	OTTHUMG00000162313	ENST00000251636.5:c.2848A>T	5.37:g.54567931T>A	ENSP00000251636:p.Arg950*					DHX29_uc010ivw.2_RNA	p.R950*	NM_019030	NP_061903	Q7Z478	DHX29_HUMAN			18	2968	-		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)	950			Helicase C-terminal.		O75549|Q63HN0|Q63HN3|Q8IWW2|Q8N3A1|Q9UMH2	Nonsense_Mutation	SNP	ENST00000251636.5	37	c.2848A>T	CCDS34158.1	.	.	.	.	.	.	.	.	.	.	T	41	9.090829	0.99062	.	.	ENSG00000067248	ENST00000251636	.	.	.	5.35	2.81	0.32909	.	0.042943	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.18710	T	0.47	.	12.4268	0.55551	0.0:0.0:0.2641:0.7359	.	.	.	.	X	950	.	ENSP00000251636:R950X	R	-	1	2	DHX29	54603688	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.132000	0.50523	0.362000	0.24319	0.533000	0.62120	AGA		0.308	DHX29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368532.1	NM_019030		8	5	0	0	0	0.00308	0	8	5				
PDE4D	5144	broad.mit.edu	37	5	58273027	58273027	+	Silent	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr5:58273027G>T	ENST00000340635.6	-	12	1873	c.1698C>A	c.(1696-1698)gtC>gtA	p.V566V	PDE4D_ENST00000358923.6_Silent_p.V264V|PDE4D_ENST00000507116.1_Silent_p.V502V|PDE4D_ENST00000503258.1_Silent_p.V436V|PDE4D_ENST00000502484.2_Silent_p.V505V|PDE4D_ENST00000405755.2_Silent_p.V444V|PDE4D_ENST00000317118.8_Silent_p.V275V|PDE4D_ENST00000360047.5_Silent_p.V430V|PDE4D_ENST00000546160.1_Silent_p.V505V	NM_001104631.1	NP_001098101.1	Q08499	PDE4D_HUMAN	phosphodiesterase 4D, cAMP-specific	566					adrenergic receptor signaling pathway (GO:0071875)|adrenergic receptor signaling pathway involved in positive regulation of heart rate (GO:0086024)|aging (GO:0007568)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to lipopolysaccharide (GO:0071222)|establishment of endothelial barrier (GO:0061028)|multicellular organism growth (GO:0035264)|negative regulation of heart contraction (GO:0045822)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of relaxation of cardiac muscle (GO:1901898)|neutrophil chemotaxis (GO:0030593)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-5 production (GO:0032754)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of receptor activity (GO:0010469)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|smooth muscle contraction (GO:0006939)|T cell receptor signaling pathway (GO:0050852)	calcium channel complex (GO:0034704)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|ATPase binding (GO:0051117)|beta-2 adrenergic receptor binding (GO:0031698)|cAMP binding (GO:0030552)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)	p.V430V(2)|p.V502V(1)|p.V505V(1)|p.V436V(1)|p.V444V(1)|p.V566V(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	Adenosine monophosphate(DB00131)|Caffeine(DB00201)|Dyphylline(DB00651)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Roflumilast(DB01656)	CGATGTCAATGACCATTTTCC	0.338																																							uc003jsa.2		NA																	7	Substitution - coding silent(7)		lung(7)	breast(1)|central_nervous_system(1)	2						c.(1696-1698)GTC>GTA		phosphodiesterase 4D isoform 1	Adenosine monophosphate(DB00131)|Dyphylline(DB00651)						130.0	121.0	124.0					5																	58273027		1827	4101	5928	SO:0001819	synonymous_variant	5144				signal transduction	cytosol|insoluble fraction|membrane|microtubule organizing center|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	g.chr5:58273027G>T		CCDS47213.1, CCDS54858.1, CCDS54859.1, CCDS56369.1, CCDS56370.1, CCDS56371.1, CCDS56372.1, CCDS56373.1	5q12	2010-06-24	2010-06-24				3.1.4.17	"""Phosphodiesterases"""	8783	protein-coding gene	gene with protein product	"""phosphodiesterase E3 dunce homolog (Drosophila)"""	600129	"""phosphodiesterase 4D, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E3)"""	DPDE3			Standard	NM_006203		Approved		uc003jsa.2	Q08499		ENST00000340635.6:c.1698C>A	5.37:g.58273027G>T						PDE4D_uc003jrx.2_Silent_p.V430V|PDE4D_uc003jry.2_Silent_p.V264V|PDE4D_uc003jrz.2_Silent_p.V502V|PDE4D_uc003jsb.2_Silent_p.V505V|PDE4D_uc003jrt.2_Silent_p.V264V|PDE4D_uc003jru.2_Silent_p.V342V|PDE4D_uc003jrv.2_Silent_p.V436V|PDE4D_uc003jrw.2_Silent_p.V444V|PDE4D_uc003jrs.2_Silent_p.V275V	p.V566V	NM_001104631	NP_001098101	Q08499	PDE4D_HUMAN		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	12	1870	-		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)	566					O43433|Q13549|Q13550|Q13551|Q7Z2L8|Q8IV84|Q8IVA9|Q8IVD2|Q8IVD3|Q96HL4|Q9HCX7	Silent	SNP	ENST00000340635.6	37	c.1698C>A	CCDS47213.1																																																																																				0.338	PDE4D-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367940.3			22	44	1	0	1.55469e-16	0.00333	2.58778e-16	22	44				
PAM	5066	broad.mit.edu	37	5	102260668	102260668	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr5:102260668G>T	ENST00000438793.3	+	5	834	c.364G>T	c.(364-366)Gat>Tat	p.D122Y	PAM_ENST00000348126.2_Missense_Mutation_p.D122Y|PAM_ENST00000346918.2_Missense_Mutation_p.D122Y|PAM_ENST00000304400.7_Missense_Mutation_p.D122Y|PAM_ENST00000379787.4_5'UTR|PAM_ENST00000274392.9_Missense_Mutation_p.D25Y|PAM_ENST00000455264.2_Missense_Mutation_p.D122Y	NM_000919.3|NM_001177306.1|NM_138766.2	NP_000910.2|NP_001170777.1|NP_620121.1	P19021	AMD_HUMAN	peptidylglycine alpha-amidating monooxygenase	122	Peptidylglycine alpha-hydroxylating monooxygenase. {ECO:0000250}.				central nervous system development (GO:0007417)|heart development (GO:0007507)|lactation (GO:0007595)|limb development (GO:0060173)|long-chain fatty acid metabolic process (GO:0001676)|maternal process involved in female pregnancy (GO:0060135)|odontogenesis (GO:0042476)|ovulation cycle process (GO:0022602)|peptide amidation (GO:0001519)|protein amidation (GO:0018032)|protein homooligomerization (GO:0051260)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of protein secretion (GO:0050708)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to copper ion (GO:0046688)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to pH (GO:0009268)|toxin metabolic process (GO:0009404)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuron projection (GO:0043005)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|secretory granule membrane (GO:0030667)|trans-Golgi network (GO:0005802)	calcium ion binding (GO:0005509)|copper ion binding (GO:0005507)|L-ascorbic acid binding (GO:0031418)|peptidylamidoglycolate lyase activity (GO:0004598)|peptidylglycine monooxygenase activity (GO:0004504)|zinc ion binding (GO:0008270)	p.D122Y(2)		endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	25		all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284)		Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127)	Vitamin C(DB00126)	CAGGTTTTGTGATGAAGGAAC	0.438																																							uc003knw.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(364-366)GAT>TAT		peptidylglycine alpha-amidating monooxygenase	Vitamin C(DB00126)						87.0	94.0	92.0					5																	102260668		2203	4300	6503	SO:0001583	missense	5066				peptide metabolic process|protein modification process	extracellular region|integral to membrane|stored secretory granule	L-ascorbic acid binding|peptidylamidoglycolate lyase activity|peptidylglycine monooxygenase activity|protein binding	g.chr5:102260668G>T	AB095007	CCDS4092.1, CCDS4093.1, CCDS4094.1, CCDS43348.1, CCDS54885.1	5q	2008-02-05			ENSG00000145730	ENSG00000145730	1.14.17.3		8596	protein-coding gene	gene with protein product	"""peptidyl-alpha-hydroxyglycine alpha-amidating lyase"", ""peptidylglycine alpha-hydroxylating monooxygenase"""	170270				2357221	Standard	NM_000919		Approved	PAL, PHM	uc003knt.3	P19021	OTTHUMG00000128729	ENST00000438793.3:c.364G>T	5.37:g.102260668G>T	ENSP00000396493:p.Asp122Tyr					PAM_uc003kns.2_Missense_Mutation_p.D122Y|PAM_uc003knt.2_Missense_Mutation_p.D122Y|PAM_uc003knu.2_Missense_Mutation_p.D122Y|PAM_uc003knv.2_Missense_Mutation_p.D122Y|PAM_uc011cuz.1_Missense_Mutation_p.D25Y	p.D122Y	NM_000919	NP_000910	P19021	AMD_HUMAN		Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127)	5	737	+		all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284)	122			Peptidylglycine alpha-hydroxylating monooxygenase (By similarity).|Intragranular (Potential).		A6NMR0|A8K293|O43211|O95080|Q16252|Q16253|Q54A45|Q86U53|Q8WVC7|Q9UCG0	Missense_Mutation	SNP	ENST00000438793.3	37	c.364G>T	CCDS54885.1	.	.	.	.	.	.	.	.	.	.	G	9.590	1.125919	0.20959	.	.	ENSG00000145730	ENST00000438793;ENST00000346918;ENST00000348126;ENST00000304400;ENST00000274392;ENST00000455264	T;T;T;T;T;T	0.32023	1.47;1.47;1.47;1.47;1.47;1.47	5.67	5.67	0.87782	Copper type II, ascorbate-dependent monooxygenase, N-terminal (2);PHM/PNGase F domain (1);	0.312485	0.39687	N	0.001298	T	0.37517	0.1006	L	0.37630	1.12	0.80722	D	1	P;P;D;P;P;D	0.63046	0.932;0.944;0.96;0.915;0.932;0.992	P;P;P;P;P;P	0.56343	0.478;0.676;0.665;0.568;0.547;0.796	T	0.04976	-1.0914	10	0.54805	T	0.06	.	11.0578	0.47929	0.0849:0.0:0.9151:0.0	.	25;122;122;122;122;122	F8WE90;P19021;P19021-4;P19021-3;P19021-5;P19021-2	.;AMD_HUMAN;.;.;.;.	Y	122;122;122;122;25;122	ENSP00000396493:D122Y;ENSP00000282992:D122Y;ENSP00000314638:D122Y;ENSP00000306100:D122Y;ENSP00000274392:D25Y;ENSP00000403461:D122Y	ENSP00000274392:D25Y	D	+	1	0	PAM	102288567	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.365000	0.59486	2.839000	0.97877	0.655000	0.94253	GAT		0.438	PAM-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250640.2	NM_000919		31	33	1	0	1.61788e-16	0.002445	2.68421e-16	31	33				
TSLP	85480	broad.mit.edu	37	5	110407739	110407739	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr5:110407739C>A	ENST00000344895.3	+	1	350	c.151C>A	c.(151-153)Ctg>Atg	p.L51M	TSLP_ENST00000420978.2_Missense_Mutation_p.L51M|TSLP_ENST00000379706.4_5'Flank	NM_033035.4	NP_149024.1	Q969D9	TSLP_HUMAN	thymic stromal lymphopoietin	51						extracellular space (GO:0005615)		p.L51M(1)		breast(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(1)	11		all_cancers(142;2.72e-05)|all_epithelial(76;4.39e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0417)|Ovarian(225;0.0443)|Colorectal(57;0.0464)|all_lung(232;0.0507)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.24e-08)|Epithelial(69;1.54e-07)|all cancers(49;1.73e-05)|COAD - Colon adenocarcinoma(37;0.109)		TTCTAAAGACCTGATTACATA	0.358																																							uc003kpb.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(151-153)CTG>ATG		thymic stromal lymphopoietin isoform 1							85.0	86.0	85.0					5																	110407739		2202	4300	6502	SO:0001583	missense	85480					extracellular space	cytokine activity	g.chr5:110407739C>A	BC040592	CCDS4101.1	5q22.1	2007-08-24			ENSG00000145777	ENSG00000145777			30743	protein-coding gene	gene with protein product		607003				11418668, 11480573	Standard	NM_033035		Approved		uc003kpb.2	Q969D9	OTTHUMG00000128791	ENST00000344895.3:c.151C>A	5.37:g.110407739C>A	ENSP00000339804:p.Leu51Met					TSLP_uc003kpa.2_RNA|TSLP_uc010jbt.1_5'Flank	p.L51M	NM_033035	NP_149024	Q969D9	TSLP_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.24e-08)|Epithelial(69;1.54e-07)|all cancers(49;1.73e-05)|COAD - Colon adenocarcinoma(37;0.109)	1	350	+		all_cancers(142;2.72e-05)|all_epithelial(76;4.39e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0417)|Ovarian(225;0.0443)|Colorectal(57;0.0464)|all_lung(232;0.0507)|Breast(839;0.244)	51					Q8IW99	Missense_Mutation	SNP	ENST00000344895.3	37	c.151C>A	CCDS4101.1	.	.	.	.	.	.	.	.	.	.	C	15.06	2.722591	0.48728	.	.	ENSG00000145777	ENST00000420978;ENST00000344895	.	.	.	5.41	1.44	0.22558	.	0.191633	0.25768	N	0.028431	T	0.40886	0.1135	L	0.32530	0.975	0.09310	N	1	D	0.89917	1.0	D	0.79108	0.992	T	0.12016	-1.0564	9	0.87932	D	0	-2.1386	4.7344	0.12981	0.1519:0.5877:0.0:0.2605	.	51	Q969D9	TSLP_HUMAN	M	51	.	ENSP00000339804:L51M	L	+	1	2	TSLP	110435638	0.002000	0.14202	0.007000	0.13788	0.001000	0.01503	0.125000	0.15749	0.359000	0.24239	-0.137000	0.14449	CTG		0.358	TSLP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250717.1	NM_033035		28	37	1	0	1.80694e-10	0.009535	2.55069e-10	28	37				
APC	324	broad.mit.edu	37	5	112178228	112178228	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr5:112178228G>T	ENST00000457016.1	+	16	7317	c.6937G>T	c.(6937-6939)Gcc>Tcc	p.A2313S	APC_ENST00000508376.2_Missense_Mutation_p.A2313S|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Missense_Mutation_p.A2313S			P25054	APC_HUMAN	adenomatous polyposis coli	2313	Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.A2313S(1)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		TTCAAGACCTGCCCAGCAACC	0.453		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	uc010jby.2		12	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	D|Mis|N|F|S	adenomatous polyposis of the colon gene			"""E, M, O"""		colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS	colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS		2	Substitution - Missense(1)|Unknown(1)	p.?(1)	lung(1)|skin(1)	large_intestine(2123)|stomach(123)|soft_tissue(55)|small_intestine(34)|breast(26)|pancreas(25)|urinary_tract(20)|lung(19)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|skin(7)|upper_aerodigestive_tract(6)|adrenal_gland(6)|bone(6)|NS(5)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1)	2515						c.(6937-6939)GCC>TCC		adenomatous polyposis coli							64.0	58.0	60.0					5																	112178228		2202	4299	6501	SO:0001583	missense	324	Hereditary_Desmoid_Disease|Familial_Adenomatous_Polyposis|Turcot_syndrome	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	g.chr5:112178228G>T	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.6937G>T	5.37:g.112178228G>T	ENSP00000413133:p.Ala2313Ser	TSP Lung(16;0.13)				APC_uc011cvt.1_Missense_Mutation_p.A2295S|APC_uc003kpz.3_Missense_Mutation_p.A2313S|APC_uc003kpy.3_Missense_Mutation_p.A2313S|APC_uc010jbz.2_Missense_Mutation_p.A2030S|APC_uc010jca.2_Missense_Mutation_p.A1613S	p.A2313S	NM_001127511	NP_001120983	P25054	APC_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)	16	7317	+		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)	2313			Ser-rich.		D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	ENST00000457016.1	37	c.6937G>T	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	G	1.596	-0.527913	0.04112	.	.	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376	D;D;D	0.83673	-1.75;-1.75;-1.75	5.92	-5.21	0.02815	Adenomatous polyposis coli protein basic domain (1);	0.930757	0.09367	N	0.811933	T	0.45875	0.1364	N	0.01048	-1.04	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.47649	-0.9101	9	.	.	.	1.3286	0.5063	0.00588	0.3411:0.1444:0.1532:0.3613	.	2315;2313	Q4LE70;P25054	.;APC_HUMAN	S	2313	ENSP00000413133:A2313S;ENSP00000257430:A2313S;ENSP00000427089:A2313S	.	A	+	1	0	APC	112206127	0.001000	0.12720	0.010000	0.14722	0.941000	0.58515	-0.094000	0.11094	-0.602000	0.05775	0.650000	0.86243	GCC		0.453	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038		17	23	1	0	1.01871e-10	0.008871	1.44802e-10	17	23				
SEMA6A	57556	broad.mit.edu	37	5	115838024	115838024	+	Splice_Site	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr5:115838024C>A	ENST00000343348.6	-	3	888		c.e3-1		SEMA6A_ENST00000257414.8_Splice_Site|CTB-118N6.3_ENST00000510682.1_RNA|SEMA6A_ENST00000510263.1_Splice_Site|SEMA6A_ENST00000503962.1_Splice_Site	NM_020796.3	NP_065847	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A						apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cell surface receptor signaling pathway (GO:0007166)|centrosome localization (GO:0051642)|cytoskeleton organization (GO:0007010)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|organ morphogenesis (GO:0009887)|positive regulation of neuron migration (GO:2001224)|semaphorin-plexin signaling pathway (GO:0071526)	axon (GO:0030424)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)	p.?(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		TGTTTTGTATCTGTGAAAAGA	0.498																																							uc010jck.2		NA																	1	Unknown(1)		lung(1)	ovary(2)	2						c.e3-1		sema domain, transmembrane domain (TM), and							153.0	148.0	150.0					5																	115838024		1977	4163	6140	SO:0001630	splice_region_variant	57556				apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity	g.chr5:115838024C>A	AB037789	CCDS47256.1, CCDS75288.1	5q23.1	2014-07-29			ENSG00000092421			"""Semaphorins"""	10738	protein-coding gene	gene with protein product	"""sema VIa"""	605885		SEMAQ		9204478, 10993894	Standard	XM_006714663		Approved	KIAA1368, SEMA6A1, SEMA, HT018	uc010jck.3	Q9H2E6	OTTHUMG00000162987	ENST00000343348.6:c.101-1G>T	5.37:g.115838024C>A						SEMA6A_uc003krx.3_Splice_Site_p.Y34_splice	p.Y34_splice	NM_020796	NP_065847	Q9H2E6	SEM6A_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)	3	810	-		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)						Q9P2H9	Splice_Site	SNP	ENST00000343348.6	37	c.101_splice	CCDS47256.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.051417	0.75960	.	.	ENSG00000092421	ENST00000343348;ENST00000257414;ENST00000510263;ENST00000515009;ENST00000509665	.	.	.	5.47	5.47	0.80525	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.929	0.92556	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SEMA6A	115865923	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.487000	0.81328	2.575000	0.86900	0.650000	0.86243	.		0.498	SEMA6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371270.1	NM_020796	Intron	35	45	1	0	6.84511e-11	0.003271	9.75691e-11	35	45				
MEGF10	84466	broad.mit.edu	37	5	126734443	126734443	+	Silent	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr5:126734443G>T	ENST00000274473.6	+	8	1002	c.735G>T	c.(733-735)gtG>gtT	p.V245V	MEGF10_ENST00000418761.2_Silent_p.V245V|MEGF10_ENST00000508365.1_Silent_p.V245V|MEGF10_ENST00000503335.2_Silent_p.V245V	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	245	EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00076}.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				homotypic cell-cell adhesion (GO:0034109)|muscle cell development (GO:0055001)|recognition of apoptotic cell (GO:0043654)|regulation of muscle cell differentiation (GO:0051147)|regulation of skeletal muscle tissue development (GO:0048641)|skeletal muscle satellite cell activation (GO:0014719)|skeletal muscle satellite cell differentiation (GO:0014816)|skeletal muscle satellite cell proliferation (GO:0014841)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)		p.V245V(1)		breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		ATGGAGGAGTGTGTCATCACG	0.522																																							uc003kuh.3		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(4)	4						c.(733-735)GTG>GTT		multiple EGF-like-domains 10 precursor							267.0	197.0	221.0					5																	126734443		2203	4300	6503	SO:0001819	synonymous_variant	84466				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup		g.chr5:126734443G>T	AK021631	CCDS4142.1	5q33	2008-02-05			ENSG00000145794	ENSG00000145794			29634	protein-coding gene	gene with protein product		612453				11347906	Standard	NM_032446		Approved	KIAA1780	uc003kui.4	Q96KG7	OTTHUMG00000128984	ENST00000274473.6:c.735G>T	5.37:g.126734443G>T						MEGF10_uc010jdc.1_Silent_p.V245V|MEGF10_uc010jdd.1_Silent_p.V245V|MEGF10_uc003kui.3_Silent_p.V245V	p.V245V	NM_032446	NP_115822	Q96KG7	MEG10_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)	8	1097	+		Prostate(80;0.165)	245			Extracellular (Potential).|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.|EGF-like 4.		Q68DE5|Q8WUL3	Silent	SNP	ENST00000274473.6	37	c.735G>T	CCDS4142.1																																																																																				0.522	MEGF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250973.2	NM_032446		22	37	1	0	5.35356e-11	0.00278	7.68446e-11	22	37				
MEGF10	84466	broad.mit.edu	37	5	126771052	126771052	+	Splice_Site	SNP	G	G	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr5:126771052G>A	ENST00000274473.6	+	17	2242		c.e17-1		MEGF10_ENST00000503335.2_Splice_Site	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10						homotypic cell-cell adhesion (GO:0034109)|muscle cell development (GO:0055001)|recognition of apoptotic cell (GO:0043654)|regulation of muscle cell differentiation (GO:0051147)|regulation of skeletal muscle tissue development (GO:0048641)|skeletal muscle satellite cell activation (GO:0014719)|skeletal muscle satellite cell differentiation (GO:0014816)|skeletal muscle satellite cell proliferation (GO:0014841)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)		p.?(1)		breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		CTTATTCACAGTGTGTCCCAG	0.458																																							uc003kuh.3		NA																	1	Unknown(1)		lung(1)	ovary(4)	4						c.e17-1		multiple EGF-like-domains 10 precursor							73.0	70.0	71.0					5																	126771052		2203	4300	6503	SO:0001630	splice_region_variant	84466				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup		g.chr5:126771052G>A	AK021631	CCDS4142.1	5q33	2008-02-05			ENSG00000145794	ENSG00000145794			29634	protein-coding gene	gene with protein product		612453				11347906	Standard	NM_032446		Approved	KIAA1780	uc003kui.4	Q96KG7	OTTHUMG00000128984	ENST00000274473.6:c.1976-1G>A	5.37:g.126771052G>A						MEGF10_uc003kui.3_Splice_Site_p.V659_splice	p.V659_splice	NM_032446	NP_115822	Q96KG7	MEG10_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)	17	2338	+		Prostate(80;0.165)						Q68DE5|Q8WUL3	Splice_Site	SNP	ENST00000274473.6	37	c.1976_splice	CCDS4142.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.663164	0.88251	.	.	ENSG00000145794	ENST00000503335;ENST00000274473	.	.	.	6.04	6.04	0.98038	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.5948	0.99439	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MEGF10	126798951	1.000000	0.71417	1.000000	0.80357	0.832000	0.47134	9.776000	0.99001	2.873000	0.98535	0.563000	0.77884	.		0.458	MEGF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250973.2	NM_032446	Intron	13	19	0	0	0	0.001855	0	13	19				
FBN2	2201	broad.mit.edu	37	5	127648464	127648464	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr5:127648464G>T	ENST00000508053.1	-	43	5715	c.4741C>A	c.(4741-4743)Ctg>Atg	p.L1581M	FBN2_ENST00000262464.4_Missense_Mutation_p.L1581M			P35556	FBN2_HUMAN	fibrillin 2	1581	TB 6.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.L1581M(2)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CCAAACTTCAGGTAGCAGTTG	0.522																																							uc003kuu.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15						c.(4741-4743)CTG>ATG		fibrillin 2 precursor							205.0	204.0	204.0					5																	127648464		2203	4300	6503	SO:0001583	missense	2201				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	g.chr5:127648464G>T	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.4741C>A	5.37:g.127648464G>T	ENSP00000424571:p.Leu1581Met						p.L1581M	NM_001999	NP_001990	P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	37	5180	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	1581			TB 6.		B4DU01|Q59ES6	Missense_Mutation	SNP	ENST00000508053.1	37	c.4741C>A	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.464837	0.84425	.	.	ENSG00000138829	ENST00000262464;ENST00000508053	D;D	0.94280	-3.39;-3.39	5.3	5.3	0.74995	Matrix fibril-associated (2);TGF-beta binding (1);	0.000000	0.46442	D	0.000294	D	0.96049	0.8713	M	0.77103	2.36	0.47621	D	0.99947	D	0.76494	0.999	D	0.79108	0.992	D	0.94753	0.7929	10	0.35671	T	0.21	.	13.4261	0.61026	0.0744:0.0:0.9256:0.0	.	1581	P35556	FBN2_HUMAN	M	1581	ENSP00000262464:L1581M;ENSP00000424571:L1581M	ENSP00000262464:L1581M	L	-	1	2	FBN2	127676363	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	4.563000	0.60823	2.769000	0.95229	0.655000	0.94253	CTG		0.522	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		80	93	1	0	6.71967e-41	0.00361	1.28125e-40	80	93				
FBN2	2201	broad.mit.edu	37	5	127712525	127712525	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr5:127712525G>C	ENST00000508053.1	-	20	2845	c.1871C>G	c.(1870-1872)aCc>aGc	p.T624S	FBN2_ENST00000508989.1_Missense_Mutation_p.T591S|FBN2_ENST00000262464.4_Missense_Mutation_p.T624S|FBN2_ENST00000511489.1_5'UTR			P35556	FBN2_HUMAN	fibrillin 2	624	EGF-like 9; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.T624S(2)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		ACACATGTTGGTAGTTGTACA	0.438																																							uc003kuu.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15						c.(1870-1872)ACC>AGC		fibrillin 2 precursor							226.0	186.0	200.0					5																	127712525		2203	4300	6503	SO:0001583	missense	2201				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	g.chr5:127712525G>C	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.1871C>G	5.37:g.127712525G>C	ENSP00000424571:p.Thr624Ser					FBN2_uc003kuv.2_Missense_Mutation_p.T591S	p.T624S	NM_001999	NP_001990	P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	14	2310	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	624			EGF-like 9; calcium-binding.		B4DU01|Q59ES6	Missense_Mutation	SNP	ENST00000508053.1	37	c.1871C>G	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	G	12.14	1.847777	0.32606	.	.	ENSG00000138829	ENST00000262464;ENST00000508053;ENST00000508989	D;D;D	0.92199	-2.99;-2.99;-2.99	4.63	4.63	0.57726	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.64402	D	0.000001	D	0.89901	0.6849	N	0.05534	-0.03	0.51233	D	0.999914	P;D	0.63046	0.752;0.992	B;D	0.76071	0.388;0.987	D	0.84115	0.0403	10	0.05833	T	0.94	.	18.8146	0.92072	0.0:0.0:1.0:0.0	.	591;624	D6RJI3;P35556	.;FBN2_HUMAN	S	624;624;591	ENSP00000262464:T624S;ENSP00000424571:T624S;ENSP00000425596:T591S	ENSP00000262464:T624S	T	-	2	0	FBN2	127740424	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.117000	0.50407	2.865000	0.98341	0.655000	0.94253	ACC		0.438	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		41	53	0	0	0	0.002522	0	41	53				
ADAMTS19	171019	broad.mit.edu	37	5	128844829	128844829	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr5:128844829G>T	ENST00000274487.4	+	3	934	c.789G>T	c.(787-789)atG>atT	p.M263I	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	263						proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.M263I(1)		NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		ATGATACAATGGCCATAACAG	0.383																																							uc003kvb.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|breast(2)|lung(1)|skin(1)	9						c.(787-789)ATG>ATT		ADAM metallopeptidase with thrombospondin type 1							102.0	94.0	97.0					5																	128844829		2203	4300	6503	SO:0001583	missense	171019				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:128844829G>T	AJ311904	CCDS4146.1	5q23.3	2009-04-27	2005-08-19		ENSG00000145808	ENSG00000145808		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17111	protein-coding gene	gene with protein product		607513	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 19"""			11867212	Standard	NM_133638		Approved		uc003kvb.1	Q8TE59	OTTHUMG00000128990	ENST00000274487.4:c.789G>T	5.37:g.128844829G>T	ENSP00000274487:p.Met263Ile					ADAMTS19_uc003kvc.1_RNA	p.M263I	NM_133638	NP_598377	Q8TE59	ATS19_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)	3	789	+		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	263						Missense_Mutation	SNP	ENST00000274487.4	37	c.789G>T	CCDS4146.1	.	.	.	.	.	.	.	.	.	.	G	12.87	2.067935	0.36470	.	.	ENSG00000145808	ENST00000274487	T	0.05717	3.4	4.27	4.27	0.50696	Peptidase M12B, propeptide (1);	0.811742	0.11352	N	0.572845	T	0.06234	0.0161	N	0.20766	0.605	0.44282	D	0.997147	B	0.24721	0.11	B	0.23852	0.049	T	0.49123	-0.8972	9	.	.	.	.	18.0078	0.89214	0.0:0.0:1.0:0.0	.	263	Q8TE59	ATS19_HUMAN	I	263	ENSP00000274487:M263I	.	M	+	3	0	ADAMTS19	128872728	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.897000	0.63231	2.672000	0.90937	0.650000	0.86243	ATG		0.383	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250979.2	NM_133638		21	23	1	0	1.36565e-18	0.00278	2.33784e-18	21	23				
CHSY3	337876	broad.mit.edu	37	5	129520233	129520233	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr5:129520233G>C	ENST00000305031.4	+	3	1756	c.1398G>C	c.(1396-1398)tgG>tgC	p.W466C		NM_175856.4	NP_787052.3	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	466					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|metal ion binding (GO:0046872)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)	p.W466C(1)		central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		TGATAGAATGGGAGTTCCTGA	0.502																																							uc003kvd.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(1396-1398)TGG>TGC		chondroitin sulfate synthase 3							40.0	40.0	40.0					5																	129520233		2203	4300	6503	SO:0001583	missense	337876					Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity	g.chr5:129520233G>C	AB086062	CCDS34223.1	5q13	2013-02-19			ENSG00000198108	ENSG00000198108	2.4.1.175, 2.4.1.226	"""Beta 3-glycosyltransferases"", ""Beta 4-glycosyltransferases"""	24293	protein-coding gene	gene with protein product		609963				12907687	Standard	XM_005271982		Approved	CSS3, CHSY-2	uc003kvd.3	Q70JA7	OTTHUMG00000163043	ENST00000305031.4:c.1398G>C	5.37:g.129520233G>C	ENSP00000302629:p.Trp466Cys						p.W466C	NM_175856	NP_787052	Q70JA7	CHSS3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)	3	1398	+		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	466			Lumenal (Potential).		B2RP97|Q76L22|Q86Y52	Missense_Mutation	SNP	ENST00000305031.4	37	c.1398G>C	CCDS34223.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.234544	0.79800	.	.	ENSG00000198108	ENST00000305031	T	0.62232	0.04	4.38	4.38	0.52667	.	0.000000	0.56097	D	0.000033	T	0.81931	0.4927	M	0.87269	2.87	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84438	0.0581	9	.	.	.	-3.1838	18.2607	0.90034	0.0:0.0:1.0:0.0	.	466	Q70JA7	CHSS3_HUMAN	C	466	ENSP00000302629:W466C	.	W	+	3	0	CHSY3	129548132	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.597000	0.98273	2.708000	0.92522	0.650000	0.86243	TGG		0.502	CHSY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371453.1	NM_175856		14	19	0	0	0	0.001855	0	14	19				
PCDHA3	56145	broad.mit.edu	37	5	140181958	140181958	+	Silent	SNP	C	C	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr5:140181958C>T	ENST00000522353.2	+	1	1176	c.1176C>T	c.(1174-1176)caC>caT	p.H392H	PCDHA3_ENST00000532566.2_Silent_p.H392H|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	392	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.H392H(2)		NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGACGCCCCACGTCCCCTTCA	0.567																																							uc003lhf.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(6)|skin(2)	8						c.(1174-1176)CAC>CAT		protocadherin alpha 3 isoform 1 precursor							129.0	119.0	122.0					5																	140181958		2203	4300	6503	SO:0001819	synonymous_variant	56145				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140181958C>T	AF152481	CCDS54915.1	5q31	2010-11-26				ENSG00000255408		"""Cadherins / Protocadherins : Clustered"""	8669	other	complex locus constituent	"""KIAA0345-like 11"""	606309				10380929	Standard	NM_018906		Approved	PCDH-ALPHA3		Q9Y5H8		ENST00000522353.2:c.1176C>T	5.37:g.140181958C>T						PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA2_uc011czy.1_Intron|PCDHA3_uc011czz.1_Silent_p.H392H	p.H392H	NM_018906	NP_061729	Q9Y5H8	PCDA3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1176	+			392			Cadherin 4.|Extracellular (Potential).		O75286	Silent	SNP	ENST00000522353.2	37	c.1176C>T	CCDS54915.1																																																																																				0.567	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372848.2	NM_018906		54	63	0	0	0	0.00361	0	54	63				
PCDHGA5	56110	broad.mit.edu	37	5	140745167	140745167	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr5:140745167G>C	ENST00000518069.1	+	1	1270	c.1270G>C	c.(1270-1272)Gtc>Ctc	p.V424L	PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1	Q9Y5G8	PCDG5_HUMAN	protocadherin gamma subfamily A, 5	424	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.V424L(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACTTTAACCGTCATGGACCA	0.438																																							uc003lju.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(1270-1272)GTC>CTC		protocadherin gamma subfamily A, 5 isoform 1							97.0	101.0	99.0					5																	140745167		1901	4104	6005	SO:0001583	missense	56110				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140745167G>C	AF152512	CCDS54925.1, CCDS75333.1	5q31	2010-01-26				ENSG00000253485		"""Cadherins / Protocadherins : Clustered"""	8703	other	protocadherin	"""cadherin ME3"""	606292				10380929	Standard	NM_018918		Approved	CDH-GAMMA-A5, ME3, PCDH-GAMMA-A5		Q9Y5G8		ENST00000518069.1:c.1270G>C	5.37:g.140745167G>C	ENSP00000429834:p.Val424Leu					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc011das.1_Missense_Mutation_p.V424L	p.V424L	NM_018918	NP_061741	Q9Y5G8	PCDG5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1270	+			424			Cadherin 4.|Extracellular (Potential).		Q2M3F5|Q9Y5D2	Missense_Mutation	SNP	ENST00000518069.1	37	c.1270G>C	CCDS54925.1	.	.	.	.	.	.	.	.	.	.	.	15.51	2.853702	0.51270	.	.	ENSG00000253485	ENST00000518069	T	0.45276	0.9	5.52	5.52	0.82312	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.53722	0.1814	M	0.82433	2.59	0.38096	D	0.937106	P;P	0.41366	0.541;0.747	B;B	0.40677	0.325;0.337	T	0.65928	-0.6049	9	0.87932	D	0	.	19.4222	0.94726	0.0:0.0:1.0:0.0	.	424;424	Q9Y5G8-2;Q9Y5G8	.;PCDG5_HUMAN	L	424	ENSP00000429834:V424L	ENSP00000429834:V424L	V	+	1	0	PCDHGA5	140725351	0.992000	0.36948	0.038000	0.18304	0.248000	0.25809	5.262000	0.65501	2.756000	0.94617	0.563000	0.77884	GTC		0.438	PCDHGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374742.1	NM_018918		36	38	0	0	0	0.002836	0	36	38				
PCDHGA5	56110	broad.mit.edu	37	5	140746231	140746231	+	Silent	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr5:140746231G>T	ENST00000518069.1	+	1	2334	c.2334G>T	c.(2332-2334)acG>acT	p.T778T	PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1	Q9Y5G8	PCDG5_HUMAN	protocadherin gamma subfamily A, 5	778					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.T778T(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGCAGACACGCTCCTTAGTG	0.522																																							uc003lju.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(4)	4						c.(2332-2334)ACG>ACT		protocadherin gamma subfamily A, 5 isoform 1							115.0	126.0	122.0					5																	140746231		2203	4300	6503	SO:0001819	synonymous_variant	56110				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140746231G>T	AF152512	CCDS54925.1, CCDS75333.1	5q31	2010-01-26				ENSG00000253485		"""Cadherins / Protocadherins : Clustered"""	8703	other	protocadherin	"""cadherin ME3"""	606292				10380929	Standard	NM_018918		Approved	CDH-GAMMA-A5, ME3, PCDH-GAMMA-A5		Q9Y5G8		ENST00000518069.1:c.2334G>T	5.37:g.140746231G>T						PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc011das.1_Silent_p.T778T	p.T778T	NM_018918	NP_061741	Q9Y5G8	PCDG5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2334	+			778			Cytoplasmic (Potential).		Q2M3F5|Q9Y5D2	Silent	SNP	ENST00000518069.1	37	c.2334G>T	CCDS54925.1																																																																																				0.522	PCDHGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374742.1	NM_018918		16	107	1	0	4.14922e-12	0.004007	6.17249e-12	16	107				
PCDHGA6	56109	broad.mit.edu	37	5	140754620	140754620	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr5:140754620G>T	ENST00000517434.1	+	1	970	c.970G>T	c.(970-972)Ggg>Tgg	p.G324W	PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1	Q9Y5G7	PCDG6_HUMAN	protocadherin gamma subfamily A, 6	324	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.G324W(1)		breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCCCGGGATGGGCCAGGTCT	0.408																																							uc003ljy.1		NA																	1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(970-972)GGG>TGG		protocadherin gamma subfamily A, 6 isoform 1							146.0	151.0	149.0					5																	140754620		1865	4090	5955	SO:0001583	missense	56109				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140754620G>T	AF152513	CCDS54926.1, CCDS75335.1	5q31	2010-01-26				ENSG00000253731		"""Cadherins / Protocadherins : Clustered"""	8704	other	protocadherin		606293				10380929	Standard	NM_018919		Approved	PCDH-GAMMA-A6		Q9Y5G7		ENST00000517434.1:c.970G>T	5.37:g.140754620G>T	ENSP00000429601:p.Gly324Trp					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc011dau.1_Missense_Mutation_p.G324W	p.G324W	NM_018919	NP_061742	Q9Y5G7	PCDG6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	970	+			324			Cadherin 3.|Extracellular (Potential).		A6H8K7|B2RN55|Q9Y5D1	Missense_Mutation	SNP	ENST00000517434.1	37	c.970G>T	CCDS54926.1	.	.	.	.	.	.	.	.	.	.	.	12.55	1.971505	0.34754	.	.	ENSG00000253731	ENST00000517434	T	0.53423	0.62	5.14	-6.95	0.01628	Cadherin (5);Cadherin-like (1);	0.835296	0.09268	U	0.825593	T	0.69958	0.3169	M	0.85099	2.735	0.09310	N	1	D;D	0.76494	0.981;0.999	D;D	0.79108	0.965;0.992	T	0.72494	-0.4276	10	0.87932	D	0	.	19.8205	0.96591	0.1633:0.1181:0.7186:0.0	.	324;324	Q9Y5G7-2;Q9Y5G7	.;PCDG6_HUMAN	W	324	ENSP00000429601:G324W	ENSP00000429601:G324W	G	+	1	0	PCDHGA6	140734804	0.000000	0.05858	0.002000	0.10522	0.882000	0.50991	-3.507000	0.00448	-1.251000	0.02494	-0.128000	0.14901	GGG		0.408	PCDHGA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374743.1	NM_018919		56	77	1	0	3.63617e-18	0.00361	6.19361e-18	56	77				
SPINK13	153218	broad.mit.edu	37	5	147661755	147661755	+	Missense_Mutation	SNP	A	A	C			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr5:147661755A>C	ENST00000512953.1	+	5	728	c.197A>C	c.(196-198)cAc>cCc	p.H66P	RP11-373N22.3_ENST00000501695.3_RNA|SPINK13_ENST00000398450.4_Missense_Mutation_p.H66P|SPINK13_ENST00000511106.1_Missense_Mutation_p.H26P			Q1W4C9	ISK13_HUMAN	serine peptidase inhibitor, Kazal type 13 (putative)	66	Kazal-like. {ECO:0000255|PROSITE- ProRule:PRU00798}.				negative regulation of acrosome reaction (GO:1902225)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.H66P(1)		breast(2)|lung(3)	5						TCAAATGGCCACACTTTCCAG	0.403																																							uc003lpc.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(196-198)CAC>CCC		serine PI Kazal type 5-like 3 precursor							161.0	145.0	150.0					5																	147661755		1917	4138	6055	SO:0001583	missense	153218					extracellular region	serine-type endopeptidase inhibitor activity	g.chr5:147661755A>C		CCDS43383.1	5q32	2011-08-31			ENSG00000214510	ENSG00000214510		"""Serine peptidase inhibitors, Kazal type"""	27200	protein-coding gene	gene with protein product		615205					Standard	NM_001040129		Approved	SPINK5L3, LiESP6, HESPINTOR, MGC149260, HBVDNAPTP1	uc003lpc.3	Q1W4C9	OTTHUMG00000163426	ENST00000512953.1:c.197A>C	5.37:g.147661755A>C	ENSP00000421048:p.His66Pro					uc003lpb.1_Intron|SPINK13_uc010jgt.2_RNA	p.H66P	NM_001040129	NP_001035218	Q1W4C9	ISK13_HUMAN			4	259	+			66			Kazal-like.		A1A4Y2	Missense_Mutation	SNP	ENST00000512953.1	37	c.197A>C	CCDS43383.1	.	.	.	.	.	.	.	.	.	.	A	6.349	0.432544	0.12045	.	.	ENSG00000214510	ENST00000512953;ENST00000511106;ENST00000398450	T;T;T	0.74737	-0.87;-0.87;-0.87	3.97	-5.47	0.02600	Proteinase inhibitor I1, Kazal (2);	.	.	.	.	T	0.54759	0.1878	.	.	.	0.09310	N	1	P	0.40398	0.716	B	0.38378	0.272	T	0.49143	-0.8970	8	0.37606	T	0.19	-13.2105	4.1973	0.10450	0.2457:0.0:0.2838:0.4705	.	66	Q1W4C9	ISK13_HUMAN	P	66;26;66	ENSP00000421048:H66P;ENSP00000426279:H26P;ENSP00000381468:H66P	ENSP00000381468:H66P	H	+	2	0	SPINK13	147641948	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.607000	0.05648	-1.096000	0.03046	-1.608000	0.00805	CAC		0.403	SPINK13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373337.1	NM_001040129.2		3	77	0	0	0	0.004672	0	3	77				
CYFIP2	26999	broad.mit.edu	37	5	156751011	156751011	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr5:156751011G>T	ENST00000521420.1	+	15	1767	c.1676G>T	c.(1675-1677)gGa>gTa	p.G559V	CYFIP2_ENST00000520960.1_3'UTR|CYFIP2_ENST00000522463.1_Missense_Mutation_p.G389V|CYFIP2_ENST00000347377.6_Missense_Mutation_p.G585V|CYFIP2_ENST00000442283.2_5'UTR|CYFIP2_ENST00000318218.6_Missense_Mutation_p.G610V|CYFIP2_ENST00000377576.3_Missense_Mutation_p.G585V|CYFIP2_ENST00000435847.2_Missense_Mutation_p.G284V|CYFIP2_ENST00000541131.1_Missense_Mutation_p.G510V					cytoplasmic FMR1 interacting protein 2									p.G610V(2)|p.G585V(1)		breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AGCCTGGATGGACCCATTGTC	0.502																																							uc003lwq.2		NA																	3	Substitution - Missense(3)		lung(3)		0						c.(1753-1755)GGA>GTA		cytoplasmic FMR1 interacting protein 2							76.0	74.0	75.0					5																	156751011		1988	4157	6145	SO:0001583	missense	26999				apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding	g.chr5:156751011G>T	AF160973	CCDS75364.1	5q34	2008-07-18				ENSG00000055163			13760	protein-coding gene	gene with protein product	"""p53 inducible protein"""	606323				11438699	Standard	NM_001037333		Approved	PIR121	uc021ygm.1	Q96F07		ENST00000521420.1:c.1676G>T	5.37:g.156751011G>T	ENSP00000430904:p.Gly559Val					CYFIP2_uc011ddn.1_Missense_Mutation_p.G559V|CYFIP2_uc011ddo.1_Missense_Mutation_p.G389V|CYFIP2_uc003lwr.2_Missense_Mutation_p.G585V|CYFIP2_uc003lws.2_Missense_Mutation_p.G585V|CYFIP2_uc003lwt.2_Missense_Mutation_p.G488V|CYFIP2_uc011ddp.1_Missense_Mutation_p.G319V	p.G585V	NM_001037333	NP_001032410	Q96F07	CYFP2_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		18	1892	+	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	610						Missense_Mutation	SNP	ENST00000521420.1	37	c.1754G>T		.	.	.	.	.	.	.	.	.	.	G	13.85	2.361281	0.41801	.	.	ENSG00000055163	ENST00000318218;ENST00000522463;ENST00000521420;ENST00000347377;ENST00000377576;ENST00000541131;ENST00000435847	T;T;T;T;T;T;T	0.24350	1.86;1.86;1.86;1.86;1.86;1.86;1.86	5.91	5.03	0.67393	.	0.045667	0.85682	N	0.000000	T	0.29389	0.0732	L	0.37897	1.145	0.80722	D	1	B;B;B;B;B;B	0.33964	0.262;0.434;0.298;0.351;0.257;0.004	B;B;B;B;B;B	0.43155	0.206;0.41;0.175;0.16;0.139;0.01	T	0.03673	-1.1014	10	0.25106	T	0.35	-22.3641	16.344	0.83117	0.0:0.0:0.8668:0.1332	.	449;389;559;585;585;610	A8MUM2;E7EW33;E7EVJ5;E7EVF4;Q96F07-2;Q96F07	.;.;.;.;.;CYFP2_HUMAN	V	610;389;559;585;585;510;284	ENSP00000325817:G610V;ENSP00000428009:G389V;ENSP00000430904:G559V;ENSP00000313567:G585V;ENSP00000366799:G585V;ENSP00000444645:G510V;ENSP00000403793:G284V	ENSP00000325817:G610V	G	+	2	0	CYFIP2	156683589	1.000000	0.71417	0.067000	0.19924	0.131000	0.20780	9.814000	0.99346	1.479000	0.48272	0.655000	0.94253	GGA		0.502	CYFIP2-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000373710.1	NM_001037332		9	11	1	0	3.86212e-05	0.008291	4.42498e-05	9	11				
WWC1	23286	broad.mit.edu	37	5	167850650	167850650	+	Missense_Mutation	SNP	A	A	G			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr5:167850650A>G	ENST00000265293.4	+	11	1889	c.1387A>G	c.(1387-1389)Act>Gct	p.T463A	WWC1_ENST00000521089.1_Missense_Mutation_p.T463A	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	463					cell migration (GO:0016477)|establishment of cell polarity (GO:0030010)|hippo signaling (GO:0035329)|negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of MAPK cascade (GO:0043410)|regulation of hippo signaling (GO:0035330)|regulation of intracellular transport (GO:0032386)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)|transcription coactivator activity (GO:0003713)	p.T463A(1)		breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		AGCCAGCTTCACTGACCTCTA	0.642																																							uc003lzu.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)|breast(1)	5						c.(1387-1389)ACT>GCT		WW and C2 domain containing 1 isoform 3							99.0	99.0	99.0					5																	167850650		2203	4300	6503	SO:0001583	missense	23286				cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity	g.chr5:167850650A>G	AF506799	CCDS4366.1, CCDS54945.1	5q34	2014-06-13	2006-11-09		ENSG00000113645	ENSG00000113645		"""WW, C2 and coiled-coil domain containing"""	29435	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 168"""	610533	"""WW, C2 and coiled-coil domain containing 1"""			10048485, 12559952	Standard	NM_001161661		Approved	KIBRA, KIAA0869, PPP1R168	uc011den.2	Q8IX03	OTTHUMG00000130408	ENST00000265293.4:c.1387A>G	5.37:g.167850650A>G	ENSP00000265293:p.Thr463Ala					WWC1_uc003lzv.2_Missense_Mutation_p.T463A|WWC1_uc011den.1_Missense_Mutation_p.T463A|WWC1_uc003lzw.2_Missense_Mutation_p.T262A	p.T463A	NM_015238	NP_056053	Q8IX03	KIBRA_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)	11	1480	+	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	463					B4DK05|O94946|Q6MZX4|Q6Y2F8|Q7Z4G8|Q8WVM4|Q9BT29	Missense_Mutation	SNP	ENST00000265293.4	37	c.1387A>G	CCDS4366.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.78|17.78	3.472501|3.472501	0.63737|0.63737	.|.	.|.	ENSG00000113645|ENSG00000113645	ENST00000393895;ENST00000524228|ENST00000265293;ENST00000521089	.|T;T	.|0.49139	.|0.79;0.79	5.22|5.22	5.22|5.22	0.72569|0.72569	.|.	.|0.060568	.|0.64402	.|D	.|0.000003	T|T	0.55970|0.55970	0.1954|0.1954	M|M	0.78049|0.78049	2.395|2.395	0.58432|0.58432	D|D	0.999997|0.999997	.|P;P;P;P	.|0.47677	.|0.875;0.899;0.899;0.838	.|P;P;P;B	.|0.48270	.|0.467;0.572;0.572;0.347	T|T	0.63001|0.63001	-0.6734|-0.6734	5|10	.|0.87932	.|D	.|0	.|.	10.3793|10.3793	0.44101|0.44101	0.8539:0.0:0.0:0.1461|0.8539:0.0:0.0:0.1461	.|.	.|463;369;369;463	.|Q8IX03-2;F5H498;B3KX05;Q8IX03	.|.;.;.;KIBRA_HUMAN	R|A	424;239|463	.|ENSP00000265293:T463A;ENSP00000427772:T463A	.|ENSP00000265293:T463A	H|T	+|+	2|1	0|0	WWC1|WWC1	167783228|167783228	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.991000|0.991000	0.79684|0.79684	7.338000|7.338000	0.79269|0.79269	1.974000|1.974000	0.57490|0.57490	0.533000|0.533000	0.62120|0.62120	CAC|ACT		0.642	WWC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252791.2	NM_015238		35	38	0	0	0	0.004878	0	35	38				
GABRP	2568	broad.mit.edu	37	5	170235647	170235647	+	Silent	SNP	T	T	C			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr5:170235647T>C	ENST00000518525.1	+	9	1187	c.723T>C	c.(721-723)aaT>aaC	p.N241N	GABRP_ENST00000519385.1_Silent_p.N241N|GABRP_ENST00000265294.4_Silent_p.N241N|GABRP_ENST00000519598.1_Silent_p.N241N			O00591	GBRP_HUMAN	gamma-aminobutyric acid (GABA) A receptor, pi	241					signal transduction (GO:0007165)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.N241N(1)		NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(4)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	29	Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TTCGGAGGAATGTTCTGTATT	0.418																																							uc003mau.2		NA																	1	Substitution - coding silent(1)		lung(1)	breast(1)	1						c.(721-723)AAT>AAC		gamma-aminobutyric acid (GABA) A receptor, pi							235.0	207.0	217.0					5																	170235647		2203	4300	6503	SO:0001819	synonymous_variant	2568					cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr5:170235647T>C	U95367	CCDS4375.1, CCDS75368.1	5q35.1	2012-06-22			ENSG00000094755	ENSG00000094755		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4089	protein-coding gene	gene with protein product	"""GABA(A) receptor, pi"""	602729				9182563	Standard	NM_014211		Approved		uc003mau.3	O00591	OTTHUMG00000130443	ENST00000518525.1:c.723T>C	5.37:g.170235647T>C						GABRP_uc011dev.1_Silent_p.N241N	p.N241N	NM_014211	NP_055026	O00591	GBRP_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		8	921	+	Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	241			Extracellular (Potential).		A8KA36|D3DQL2|Q32MJ1	Silent	SNP	ENST00000518525.1	37	c.723T>C	CCDS4375.1																																																																																				0.418	GABRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252834.3	NM_014211		6	39	0	0	0	0.001168	0	6	39				
RNF44	22838	broad.mit.edu	37	5	175959138	175959138	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr5:175959138G>A	ENST00000274811.4	-	3	688	c.164C>T	c.(163-165)tCc>tTc	p.S55F	RNF44_ENST00000509404.1_5'Flank|RNF44_ENST00000537487.1_Intron	NM_014901.4	NP_055716.1	Q7L0R7	RNF44_HUMAN	ring finger protein 44	55	Pro-rich.						zinc ion binding (GO:0008270)	p.S55F(1)		endometrium(2)|lung(3)|prostate(1)|skin(1)|stomach(1)	8	all_cancers(89;0.0029)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CGGCTGCTGGGAGGGTAAGCG	0.741																																							uc003mek.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(163-165)TCC>TTC		ring finger protein 44							12.0	17.0	15.0					5																	175959138		2186	4269	6455	SO:0001583	missense	22838						zinc ion binding	g.chr5:175959138G>A	AB029023	CCDS4404.1	5q35.3	2013-01-09			ENSG00000146083	ENSG00000146083		"""RING-type (C3HC4) zinc fingers"""	19180	protein-coding gene	gene with protein product						10470851	Standard	NM_014901		Approved	KIAA1100	uc003mek.1	Q7L0R7	OTTHUMG00000130664	ENST00000274811.4:c.164C>T	5.37:g.175959138G>A	ENSP00000274811:p.Ser55Phe					RNF44_uc011dfo.1_Intron|RNF44_uc003mel.1_5'Flank	p.S55F	NM_014901	NP_055716	Q7L0R7	RNF44_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		3	689	-	all_cancers(89;0.0029)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	55			Pro-rich.		B4DYE0|Q8ND05|Q9UPQ2	Missense_Mutation	SNP	ENST00000274811.4	37	c.164C>T	CCDS4404.1	.	.	.	.	.	.	.	.	.	.	G	14.19	2.462216	0.43736	.	.	ENSG00000146083	ENST00000274811	T	0.31769	1.48	3.98	3.98	0.46160	.	0.544295	0.17223	U	0.182263	T	0.23727	0.0574	L	0.36672	1.1	0.80722	D	1	P	0.48998	0.918	P	0.45167	0.472	T	0.01657	-1.1302	10	0.09843	T	0.71	-36.0999	9.5789	0.39475	0.0983:0.0:0.9017:0.0	.	55	Q7L0R7	RNF44_HUMAN	F	55	ENSP00000274811:S55F	ENSP00000274811:S55F	S	-	2	0	RNF44	175891744	1.000000	0.71417	1.000000	0.80357	0.581000	0.36288	3.547000	0.53663	2.223000	0.72356	0.561000	0.74099	TCC		0.741	RNF44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253156.2			12	8	0	0	0	0.001368	0	12	8				
TBC1D9B	23061	broad.mit.edu	37	5	179290820	179290820	+	Silent	SNP	C	C	G			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr5:179290820C>G	ENST00000356834.3	-	22	3418	c.3381G>C	c.(3379-3381)gtG>gtC	p.V1127V	TBC1D9B_ENST00000518085.1_5'UTR|TBC1D9B_ENST00000444477.2_Silent_p.V268V|TBC1D9B_ENST00000355235.3_Silent_p.V1110V|TBC1D9B_ENST00000519746.1_Silent_p.V286V	NM_198868.2	NP_942568.2	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	1127						integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)	p.V1127V(1)|p.V1110V(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCCCCTCCACCACCACCTGGC	0.637																																							uc003mlh.2		NA																	2	Substitution - coding silent(2)		lung(2)	breast(1)|skin(1)	2						c.(3379-3381)GTG>GTC		TBC1 domain family, member 9B (with GRAM domain)							64.0	69.0	68.0					5																	179290820		2203	4300	6503	SO:0001819	synonymous_variant	23061					integral to membrane|intracellular	calcium ion binding|Rab GTPase activator activity	g.chr5:179290820C>G	AB014576	CCDS4450.1, CCDS43408.1	5q35.3	2013-01-10			ENSG00000197226	ENSG00000197226		"""EF-hand domain containing"""	29097	protein-coding gene	gene with protein product						9734811	Standard	NM_198868		Approved	KIAA0676	uc003mlh.3	Q66K14	OTTHUMG00000130911	ENST00000356834.3:c.3381G>C	5.37:g.179290820C>G						TBC1D9B_uc003mli.2_Silent_p.V1110V|TBC1D9B_uc003mlj.2_Silent_p.V1109V|TBC1D9B_uc003mlf.2_Silent_p.V201V|TBC1D9B_uc003mlg.2_Silent_p.V286V|TBC1D9B_uc011dgv.1_Silent_p.V286V	p.V1127V	NM_198868	NP_942568	Q66K14	TBC9B_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		22	3418	-	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	1127					D3DWQ5|D3DWQ6|O75163|Q53EY0|Q6MZI2|Q96H49	Silent	SNP	ENST00000356834.3	37	c.3381G>C	CCDS43408.1	.	.	.	.	.	.	.	.	.	.	C	0.145	-1.097793	0.01843	.	.	ENSG00000197226	ENST00000524222	.	.	.	5.25	2.45	0.29901	.	.	.	.	.	T	0.21962	0.0529	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.19549	-1.0302	4	.	.	.	-10.0018	1.6758	0.02821	0.1467:0.4652:0.1432:0.2449	.	.	.	.	S	170	.	.	W	-	2	0	TBC1D9B	179223426	0.012000	0.17670	0.392000	0.26245	0.229000	0.25112	-0.007000	0.12810	0.579000	0.29504	-0.225000	0.12378	TGG		0.637	TBC1D9B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253501.3	NM_015043		37	50	0	0	0	0.009718	0	37	50				
BTNL8	79908	broad.mit.edu	37	5	180338529	180338529	+	Silent	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr5:180338529C>A	ENST00000340184.4	+	3	794	c.588C>A	c.(586-588)acC>acA	p.T196T	Y_RNA_ENST00000410920.1_RNA|BTNL8_ENST00000400707.3_Silent_p.T71T|BTNL8_ENST00000505126.1_5'UTR|BTNL8_ENST00000533815.2_Silent_p.T12T|BTNL8_ENST00000511704.1_Silent_p.T80T|BTNL8_ENST00000231229.4_Silent_p.T196T|BTNL8_ENST00000508408.1_Silent_p.T196T	NM_001040462.2	NP_001035552.1	Q6UX41	BTNL8_HUMAN	butyrophilin-like 8	196	Ig-like V-type 2.				immune system process (GO:0002376)	integral component of membrane (GO:0016021)		p.T196T(2)		breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCTCTCTGACCGTCCAAGAGA	0.547																																							uc003mmp.2		NA																	2	Substitution - coding silent(2)		lung(2)	upper_aerodigestive_tract(1)|skin(1)	2						c.(586-588)ACC>ACA		butyrophilin-like 8 isoform 2 precursor							88.0	86.0	87.0					5																	180338529		2203	4296	6499	SO:0001819	synonymous_variant	79908					integral to membrane		g.chr5:180338529C>A	AK025111	CCDS4459.1, CCDS43413.1, CCDS54956.1, CCDS54957.1, CCDS54958.1, CCDS54959.1	5q35.3	2014-01-14			ENSG00000113303	ENSG00000113303		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	26131	protein-coding gene	gene with protein product		615606				12975309	Standard	NM_024850		Approved	FLJ21458, BTN9.2	uc003mmp.3	Q6UX41	OTTHUMG00000130932	ENST00000340184.4:c.588C>A	5.37:g.180338529C>A						BTNL8_uc003mmq.2_Silent_p.T196T|BTNL8_uc011dhg.1_Silent_p.T71T|BTNL8_uc010jll.2_Silent_p.T196T|BTNL8_uc010jlm.2_Silent_p.T80T|BTNL8_uc011dhh.1_Silent_p.T12T	p.T196T	NM_001040462	NP_001035552	Q6UX41	BTNL8_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		3	822	+	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	196			Ig-like V-type 2.|Extracellular (Potential).		A4QMZ8|A6NEX6|B7Z409|B7Z5B1|E9PEF6|E9PG07|F2Z2B2|F8W712|Q9H730	Silent	SNP	ENST00000340184.4	37	c.588C>A	CCDS43413.1																																																																																				0.547	BTNL8-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000368440.1	NM_024850		33	34	1	0	1.99505e-19	0.002445	3.43835e-19	33	34				
RREB1	6239	broad.mit.edu	37	6	7230553	7230553	+	Missense_Mutation	SNP	G	G	C	rs142616407	byFrequency	TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr6:7230553G>C	ENST00000349384.6	+	10	2535	c.2221G>C	c.(2221-2223)Gcg>Ccg	p.A741P	RREB1_ENST00000334984.6_Missense_Mutation_p.A741P|RREB1_ENST00000379938.2_Missense_Mutation_p.A741P|RREB1_ENST00000379933.3_Missense_Mutation_p.A741P	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	741					multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A741P(2)		breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				GAGTAGCAGCGCGGCCGAGCT	0.627																																							uc003mxc.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)|large_intestine(2)|pancreas(2)|skin(2)|breast(1)	11						c.(2221-2223)GCG>CCG		ras responsive element binding protein 1 isoform							64.0	59.0	61.0					6																	7230553		2203	4300	6503	SO:0001583	missense	6239				multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding	g.chr6:7230553G>C	U26914	CCDS34335.1, CCDS34336.1, CCDS54963.1	6p25	2013-01-08			ENSG00000124782	ENSG00000124782		"""Zinc fingers, C2H2-type"""	10449	protein-coding gene	gene with protein product	"""hindsight homolog (drosophila)"""	602209				9367691, 18394891	Standard	NM_001003698		Approved	HNT	uc003mxb.3	Q92766	OTTHUMG00000014201	ENST00000349384.6:c.2221G>C	6.37:g.7230553G>C	ENSP00000305560:p.Ala741Pro					RREB1_uc003mxb.2_Missense_Mutation_p.A741P|RREB1_uc010jnx.2_Missense_Mutation_p.A741P	p.A741P	NM_001003698	NP_001003698	Q92766	RREB1_HUMAN			10	2611	+	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)	741					A2RRF5|E2GM80|E2GM81|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	Missense_Mutation	SNP	ENST00000349384.6	37	c.2221G>C	CCDS34336.1	.	.	.	.	.	.	.	.	.	.	G	13.03	2.115076	0.37339	.	.	ENSG00000124782	ENST00000379933;ENST00000379938;ENST00000349384;ENST00000334984;ENST00000483150	T;T;T;T;T	0.12147	2.83;2.79;2.83;2.71;2.85	5.36	0.781	0.18561	.	0.404346	0.23086	N	0.052099	T	0.07818	0.0196	N	0.19112	0.55	0.36334	D	0.859028	D;D;B	0.61080	0.988;0.989;0.064	P;P;B	0.62184	0.899;0.796;0.067	T	0.19844	-1.0293	10	0.37606	T	0.19	-16.8504	8.7172	0.34419	0.457:0.0:0.543:0.0	.	741;741;741	Q92766-3;Q92766;Q92766-2	.;RREB1_HUMAN;.	P	741	ENSP00000369265:A741P;ENSP00000369270:A741P;ENSP00000305560:A741P;ENSP00000335574:A741P;ENSP00000419511:A741P	ENSP00000335574:A741P	A	+	1	0	RREB1	7175552	0.493000	0.26035	0.704000	0.30370	0.948000	0.59901	1.288000	0.33296	-0.047000	0.13423	0.655000	0.94253	GCG		0.627	RREB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352985.1			13	30	0	0	0	0.004007	0	13	30				
NUP153	9972	broad.mit.edu	37	6	17688816	17688816	+	Missense_Mutation	SNP	T	T	C			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr6:17688816T>C	ENST00000262077.2	-	2	144	c.145A>G	c.(145-147)Aat>Gat	p.N49D	NUP153_ENST00000537253.1_Missense_Mutation_p.N49D	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	49					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of RNA export from nucleus (GO:0046832)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral entry into host cell (GO:0046718)|viral penetration into host nucleus (GO:0075732)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleocytoplasmic transporter activity (GO:0005487)|protein anchor (GO:0043495)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)|zinc ion binding (GO:0008270)	p.N49D(1)		NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			GGCACAATATTCTTAACAGAT	0.368																																							uc003ncd.1		NA																	1	Substitution - Missense(1)		lung(1)	lung(4)|ovary(2)|breast(2)|skin(1)	9						c.(145-147)AAT>GAT		nucleoporin 153kDa							124.0	117.0	120.0					6																	17688816		2203	4300	6503	SO:0001583	missense	9972				carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding	g.chr6:17688816T>C	Z25535	CCDS4541.1, CCDS64359.1, CCDS75407.1	6p22.3	2008-07-29	2002-08-29		ENSG00000124789	ENSG00000124789			8062	protein-coding gene	gene with protein product		603948	"""nucleoporin 153kD"""			8110839	Standard	NM_001278209		Approved	HNUP153	uc003ncd.2	P49790	OTTHUMG00000014312	ENST00000262077.2:c.145A>G	6.37:g.17688816T>C	ENSP00000262077:p.Asn49Asp					NUP153_uc011dje.1_Missense_Mutation_p.N49D|NUP153_uc010jpl.1_Missense_Mutation_p.N49D	p.N49D	NM_005124	NP_005115	P49790	NU153_HUMAN	all cancers(50;0.0981)|Epithelial(50;0.112)		2	345	-	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	49					B4DIK2|E7EPX5|F6QR24|Q4LE47|Q5T9I7|Q7Z743	Missense_Mutation	SNP	ENST00000262077.2	37	c.145A>G	CCDS4541.1	.	.	.	.	.	.	.	.	.	.	T	25.0	4.597486	0.87055	.	.	ENSG00000124789	ENST00000262077;ENST00000430136;ENST00000537253	T;T	0.06849	3.28;3.25	5.69	5.69	0.88448	.	0.000000	0.53938	D	0.000046	T	0.10766	0.0263	L	0.46157	1.445	0.39087	D	0.961023	D;P;P	0.61080	0.989;0.93;0.932	P;P;P	0.60789	0.879;0.449;0.55	T	0.17167	-1.0378	10	0.27785	T	0.31	-16.9268	14.1872	0.65612	0.0:0.0:0.0:1.0	.	49;71;49	F6QR24;Q4LE47;P49790	.;.;NU153_HUMAN	D	49;71;49	ENSP00000262077:N49D;ENSP00000444029:N49D	ENSP00000262077:N49D	N	-	1	0	NUP153	17796795	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	5.326000	0.65875	2.156000	0.67533	0.528000	0.53228	AAT		0.368	NUP153-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039953.1			12	117	0	0	0	0.00245	0	12	117				
OR2W1	26692	broad.mit.edu	37	6	29012594	29012594	+	Missense_Mutation	SNP	T	T	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr6:29012594T>A	ENST00000377175.1	-	1	423	c.359A>T	c.(358-360)tAt>tTt	p.Y120F		NM_030903.3	NP_112165.1	Q9Y3N9	OR2W1_HUMAN	olfactory receptor, family 2, subfamily W, member 1	120						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Y120F(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|skin(1)	23						AAAACGATCATAGGACATAAC	0.403																																							uc003nlw.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(358-360)TAT>TTT		olfactory receptor, family 2, subfamily W,							101.0	81.0	88.0					6																	29012594		1511	2709	4220	SO:0001583	missense	26692				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29012594T>A	AL035402	CCDS4656.1	6p22.1	2012-08-09			ENSG00000204704	ENSG00000204704		"""GPCR / Class A : Olfactory receptors"""	8281	protein-coding gene	gene with protein product							Standard	NM_030903		Approved	hs6M1-15	uc003nlw.2	Q9Y3N9	OTTHUMG00000031048	ENST00000377175.1:c.359A>T	6.37:g.29012594T>A	ENSP00000366380:p.Tyr120Phe						p.Y120F	NM_030903	NP_112165	Q9Y3N9	OR2W1_HUMAN			1	359	-			120			Helical; Name=3; (Potential).		B0S7Y5|Q5JNZ1|Q6IEU0|Q96R17|Q9GZL0|Q9GZL1	Missense_Mutation	SNP	ENST00000377175.1	37	c.359A>T	CCDS4656.1	.	.	.	.	.	.	.	.	.	.	T	12.37	1.916961	0.33815	.	.	ENSG00000204704	ENST00000377175	T	0.00368	7.76	4.79	3.56	0.40772	GPCR, rhodopsin-like superfamily (1);	0.000000	0.46145	D	0.000308	T	0.00109	0.0003	L	0.28192	0.835	0.29747	N	0.836611	D	0.58970	0.984	P	0.57620	0.824	T	0.44159	-0.9346	10	0.06494	T	0.89	.	8.2301	0.31593	0.3127:0.0:0.0:0.6873	.	120	Q9Y3N9	OR2W1_HUMAN	F	120	ENSP00000366380:Y120F	ENSP00000366380:Y120F	Y	-	2	0	OR2W1	29120573	0.859000	0.29813	0.999000	0.59377	0.687000	0.40016	1.096000	0.30976	1.766000	0.52107	0.482000	0.46254	TAT		0.403	OR2W1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076053.2			17	24	0	0	0	0.004007	0	17	24				
VWA7	80737	broad.mit.edu	37	6	31735274	31735274	+	Missense_Mutation	SNP	C	C	G			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr6:31735274C>G	ENST00000375688.4	-	12	1854	c.1654G>C	c.(1654-1656)Gag>Cag	p.E552Q	SAPCD1-AS1_ENST00000419679.1_RNA|VWA7_ENST00000467576.1_5'UTR|VWA7_ENST00000447450.1_Missense_Mutation_p.E552Q|VWA7_ENST00000375686.3_Missense_Mutation_p.E552Q			Q9Y334	VWA7_HUMAN	von Willebrand factor A domain containing 7	552						extracellular region (GO:0005576)		p.E552Q(1)									CCGCCTTCCTCCTGGCCCTGG	0.592																																							uc011dog.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(1654-1656)GAG>CAG		G7c protein precursor							108.0	123.0	118.0					6																	31735274		1511	2709	4220	SO:0001583	missense	80737					extracellular region		g.chr6:31735274C>G		CCDS4721.2	6p21	2011-12-13	2011-12-13	2011-12-13	ENSG00000204396	ENSG00000204396			13939	protein-coding gene	gene with protein product		609693	"""chromosome 6 open reading frame 27"""	C6orf27			Standard	NM_025258		Approved	G7c, NG37	uc011dog.2	Q9Y334	OTTHUMG00000031132	ENST00000375688.4:c.1654G>C	6.37:g.31735274C>G	ENSP00000364840:p.Glu552Gln					C6orf27_uc003nxd.2_Missense_Mutation_p.E227Q	p.E552Q	NM_025258	NP_079534	Q9Y334	G7C_HUMAN			12	1892	-			552					A2BEX8|A6NHR6|B0V041|Q5SSR5|Q96QC8|Q9UMP9	Missense_Mutation	SNP	ENST00000375688.4	37	c.1654G>C	CCDS4721.2	.	.	.	.	.	.	.	.	.	.	C	0.535	-0.856068	0.02630	.	.	ENSG00000204396	ENST00000375688;ENST00000375686;ENST00000447450	T;T;T	0.32023	2.66;2.44;1.47	5.04	3.17	0.36434	.	0.762076	0.12624	N	0.452721	T	0.10380	0.0254	L	0.51422	1.61	0.20638	N	0.999873	B	0.18968	0.032	B	0.21917	0.037	T	0.35151	-0.9800	10	0.15952	T	0.53	-13.2617	8.8188	0.35011	0.0:0.7486:0.1605:0.0909	.	552	Q9Y334	G7C_HUMAN	Q	552	ENSP00000364840:E552Q;ENSP00000364838:E552Q;ENSP00000390554:E552Q	ENSP00000364838:E552Q	E	-	1	0	C6orf27	31843253	0.185000	0.23213	0.996000	0.52242	0.126000	0.20510	0.384000	0.20668	0.722000	0.32252	-1.134000	0.01955	GAG		0.592	VWA7-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076233.2	NM_025258		53	151	0	0	0	0.00361	0	53	151				
PBX2	5089	broad.mit.edu	37	6	32155933	32155934	+	Splice_Site	DNP	CC	CC	AA			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr6:32155933_32155934CC>AA	ENST00000375050.4	-	4	814	c.544_544GG>TT	c.(544-546)GGgc>TTggc	p.G182L	XXbac-BPG300A18.13_ENST00000559458.1_RNA	NM_002586.4	NP_002577.2	P40425	PBX2_HUMAN	pre-B-cell leukemia homeobox 2	182					embryonic limb morphogenesis (GO:0030326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.?(1)		endometrium(1)|kidney(1)|lung(9)|ovary(1)|prostate(2)	14						TCATTACATGCCTGTAGTGGGG	0.604																																							uc003oav.1		NA																	1	Unknown(1)		lung(1)	ovary(1)	1						c.e4-1		pre-B-cell leukemia homeobox 2																																				SO:0001630	splice_region_variant	5089						transcription factor binding	g.chr6:32155933_32155934CC>AA		CCDS4748.1	6p21.32	2011-06-20	2007-01-30		ENSG00000204304	ENSG00000204304		"""Homeoboxes / TALE class"""	8633	protein-coding gene	gene with protein product		176311	"""pre-B-cell leukemia transcription factor 2"""			7835890	Standard	NM_002586		Approved	G17, HOX12, PBX2MHC	uc003oav.1	P40425	OTTHUMG00000031116	ENST00000375050.4:c.544_544delinsAA	6.37:g.32155933_32155934delinsAA						PBX2_uc003oaw.2_Splice_Site_p.A182_splice	p.A182_splice	NM_002586	NP_002577	P40425	PBX2_HUMAN			4	815	-								A2BFJ2	Splice_Site	DNP	ENST00000375050.4	37	c.544_splice	CCDS4748.1																																																																																				0.604	PBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076194.4		Missense_Mutation	11	21	0	0	0	0.004672	0	11	21				
NOTCH4	4855	broad.mit.edu	37	6	32188606	32188606	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr6:32188606G>T	ENST00000375023.3	-	5	987	c.849C>A	c.(847-849)caC>caA	p.H283Q		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	283	EGF-like 7; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|embryo development (GO:0009790)|endothelial cell morphogenesis (GO:0001886)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of cell differentiation (GO:0045596)|negative regulation of endothelial cell differentiation (GO:0045602)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)	p.H283Q(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						TCTGACACTGGTGGCTGACAC	0.557																																							uc003obb.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(8)|ovary(5)|breast(4)|central_nervous_system(3)|upper_aerodigestive_tract(1)|skin(1)	22						c.(847-849)CAC>CAA		notch4 preproprotein							113.0	103.0	106.0					6																	32188606		2203	4300	6503	SO:0001583	missense	4855				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity	g.chr6:32188606G>T		CCDS34420.1	6p21.3	2013-01-10	2010-06-24		ENSG00000204301	ENSG00000204301		"""Ankyrin repeat domain containing"""	7884	protein-coding gene	gene with protein product		164951	"""Notch (Drosophila) homolog 4"", ""Notch homolog 4 (Drosophila)"""	INT3		7835890	Standard	NM_004557		Approved		uc003obb.3	Q99466	OTTHUMG00000031044	ENST00000375023.3:c.849C>A	6.37:g.32188606G>T	ENSP00000364163:p.His283Gln					NOTCH4_uc011dpu.1_RNA|NOTCH4_uc011dpv.1_RNA|NOTCH4_uc003obc.2_Missense_Mutation_p.H283Q	p.H283Q	NM_004557	NP_004548	Q99466	NOTC4_HUMAN			5	988	-			283			EGF-like 7; calcium-binding (Potential).|Extracellular (Potential).		B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Missense_Mutation	SNP	ENST00000375023.3	37	c.849C>A	CCDS34420.1	.	.	.	.	.	.	.	.	.	.	G	14.37	2.514075	0.44763	.	.	ENSG00000204301	ENST00000375023	D	0.94966	-3.57	4.74	2.96	0.34315	EGF-like calcium-binding, conserved site (1);EGF (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.147824	0.31438	N	0.007655	D	0.92014	0.7470	L	0.37630	1.12	0.80722	D	1	D;B	0.53885	0.963;0.044	P;B	0.62740	0.906;0.054	D	0.91107	0.4919	10	0.52906	T	0.07	.	8.7113	0.34385	0.1866:0.0:0.8134:0.0	.	283;283	Q6P3V5;Q99466	.;NOTC4_HUMAN	Q	283	ENSP00000364163:H283Q	ENSP00000364163:H283Q	H	-	3	2	NOTCH4	32296584	1.000000	0.71417	0.107000	0.21349	0.881000	0.50899	2.486000	0.45259	0.617000	0.30160	0.491000	0.48974	CAC		0.557	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076045.2			52	114	1	0	1.13205e-32	0.00361	2.12675e-32	52	114				
FKBP5	2289	broad.mit.edu	37	6	35588009	35588009	+	Missense_Mutation	SNP	T	T	C			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr6:35588009T>C	ENST00000539068.1	-	4	495	c.293A>G	c.(292-294)aAg>aGg	p.K98R	FKBP5_ENST00000540787.1_Intron|FKBP5_ENST00000542713.1_Missense_Mutation_p.K98R|FKBP5_ENST00000536438.1_Missense_Mutation_p.K98R|FKBP5_ENST00000357266.4_Missense_Mutation_p.K98R	NM_001145776.1	NP_001139248.1	Q13451	FKBP5_HUMAN	FK506 binding protein 5	98	PPIase FKBP-type 1. {ECO:0000255|PROSITE- ProRule:PRU00277}.				chaperone-mediated protein folding (GO:0061077)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	FK506 binding (GO:0005528)|heat shock protein binding (GO:0031072)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)	p.K98R(2)		breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|urinary_tract(2)	17						CTCTCCTTTCTTCATGGTAGC	0.423																																							uc011dte.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(292-294)AAG>AGG		FK506 binding protein 5 isoform 1							158.0	130.0	139.0					6																	35588009		2203	4300	6503	SO:0001583	missense	2289				protein folding	cytoplasm|membrane|nucleus	FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity	g.chr6:35588009T>C	U42031	CCDS4808.1, CCDS54996.1	6p21.31	2013-01-10	2001-11-28		ENSG00000096060	ENSG00000096060		"""Tetratricopeptide (TTC) repeat domain containing"""	3721	protein-coding gene	gene with protein product		602623	"""FK506-binding protein 5"""			9001212	Standard	NM_004117		Approved	FKBP51, FKBP54, PPIase, P54, Ptg-10	uc003okx.2	Q13451	OTTHUMG00000014576	ENST00000539068.1:c.293A>G	6.37:g.35588009T>C	ENSP00000441205:p.Lys98Arg					FKBP5_uc003okx.2_Missense_Mutation_p.K98R|FKBP5_uc011dtf.1_Intron|FKBP5_uc003oky.2_Missense_Mutation_p.K98R|FKBP5_uc003okz.2_Missense_Mutation_p.K98R	p.K98R	NM_001145776	NP_001139248	Q13451	FKBP5_HUMAN			4	496	-			98			PPIase FKBP-type 1.		F5H7R1|Q59EB8|Q5TGM6	Missense_Mutation	SNP	ENST00000539068.1	37	c.293A>G	CCDS4808.1	.	.	.	.	.	.	.	.	.	.	T	19.71	3.877995	0.72294	.	.	ENSG00000096060	ENST00000536438;ENST00000357266;ENST00000539068;ENST00000337746;ENST00000543400;ENST00000542713;ENST00000373875	D;D;D;D	0.87650	-2.28;-2.28;-2.28;-2.28	5.75	5.75	0.90469	Peptidyl-prolyl cis-trans isomerase, FKBP-type, domain (2);	0.227351	0.45126	N	0.000390	T	0.76234	0.3959	L	0.39085	1.19	0.44247	D	0.997099	B;B	0.18013	0.003;0.025	B;B	0.18871	0.016;0.023	T	0.75164	-0.3414	10	0.56958	D	0.05	-9.6575	16.0681	0.80903	0.0:0.0:0.0:1.0	.	98;98	F5H7R1;Q13451	.;FKBP5_HUMAN	R	98;98;98;98;61;98;96	ENSP00000444810:K98R;ENSP00000349811:K98R;ENSP00000441205:K98R;ENSP00000442340:K98R	ENSP00000338160:K98R	K	-	2	0	FKBP5	35695987	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.899000	0.69846	2.188000	0.69820	0.528000	0.53228	AAG		0.423	FKBP5-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040309.2			38	38	0	0	0	0.004878	0	38	38				
DNAH8	1769	broad.mit.edu	37	6	38835952	38835952	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr6:38835952G>A	ENST00000359357.3	+	46	6411	c.6157G>A	c.(6157-6159)Gat>Aat	p.D2053N	DNAH8_ENST00000449981.2_Missense_Mutation_p.D2270N|DNAH8_ENST00000441566.1_Missense_Mutation_p.D2017N			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	2053					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.D2053N(2)		NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AGGACTAAGAGATATGAACCT	0.363																																							uc003ooe.1		NA																	2	Substitution - Missense(2)		lung(2)	skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						c.(6157-6159)GAT>AAT		dynein, axonemal, heavy polypeptide 8							112.0	110.0	111.0					6																	38835952		2203	4300	6503	SO:0001583	missense	1769							g.chr6:38835952G>A	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.6157G>A	6.37:g.38835952G>A	ENSP00000352312:p.Asp2053Asn						p.D2053N	NM_001371	NP_001362					46	6757	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37	c.6157G>A		.	.	.	.	.	.	.	.	.	.	G	36	5.631756	0.96682	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T;T	0.28666	1.6;2.13;2.13;2.13	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.60907	0.2305	M	0.90483	3.12	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.67929	-0.5543	10	0.72032	D	0.01	.	20.0411	0.97590	0.0:0.0:1.0:0.0	.	2053	Q96JB1	DYH8_HUMAN	N	2258;2258;2053;2017	ENSP00000415331:D2258N;ENSP00000333363:D2258N;ENSP00000352312:D2053N;ENSP00000402294:D2017N	ENSP00000333363:D2258N	D	+	1	0	DNAH8	38943930	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.830000	0.99415	2.739000	0.93911	0.655000	0.94253	GAT		0.363	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		35	21	0	0	0	0.00623	0	35	21				
GLTSCR1L	23506	broad.mit.edu	37	6	42832695	42832695	+	Silent	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr6:42832695G>T	ENST00000314073.5	+	13	2927	c.2751G>T	c.(2749-2751)acG>acT	p.T917T	GLTSCR1L_ENST00000394168.1_Silent_p.T917T			Q6AI39	GSC1L_HUMAN	GLTSCR1-like	917								p.T917T(1)									ACCAGAGCACGTCTGAAGAGA	0.522																																							uc003osn.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(2749-2751)ACG>ACT		hypothetical protein LOC23506							47.0	47.0	47.0					6																	42832695		2203	4300	6503	SO:0001819	synonymous_variant	23506							g.chr6:42832695G>T	AL833540	CCDS34451.1	6p21.1	2012-11-29	2012-11-29	2012-11-29	ENSG00000112624	ENSG00000112624			21111	protein-coding gene	gene with protein product			"""KIAA0240"""	KIAA0240			Standard	XM_005248972		Approved		uc003osp.1	Q6AI39	OTTHUMG00000014706	ENST00000314073.5:c.2751G>T	6.37:g.42832695G>T						KIAA0240_uc011duw.1_Silent_p.T917T|KIAA0240_uc003osp.1_Silent_p.T917T	p.T917T	NM_015349	NP_056164	Q6AI39	K0240_HUMAN	Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|all cancers(41;0.00524)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.104)		13	2902	+	Colorectal(47;0.196)		917					A1L3W2|Q5TFZ3|Q92514	Silent	SNP	ENST00000314073.5	37	c.2751G>T	CCDS34451.1																																																																																				0.522	GLTSCR1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040562.3	NM_015349		25	13	1	0	3.28513e-13	0.003954	5.05632e-13	25	13				
PKHD1	5314	broad.mit.edu	37	6	51890625	51890625	+	Missense_Mutation	SNP	A	A	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr6:51890625A>T	ENST00000371117.3	-	32	4258	c.3983T>A	c.(3982-3984)gTc>gAc	p.V1328D	PKHD1_ENST00000340994.4_Missense_Mutation_p.V1328D	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1328	IPT/TIG 8; atypical.				cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)	p.V1328D(2)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CAGAAGGATGACTGAGTTGGA	0.527																																							uc003pah.1		NA																	2	Substitution - Missense(2)		lung(2)	lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44						c.(3982-3984)GTC>GAC		fibrocystin isoform 1							120.0	108.0	112.0					6																	51890625		2203	4300	6503	SO:0001583	missense	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51890625A>T	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.3983T>A	6.37:g.51890625A>T	ENSP00000360158:p.Val1328Asp					PKHD1_uc003pai.2_Missense_Mutation_p.V1328D	p.V1328D	NM_138694	NP_619639	P08F94	PKHD1_HUMAN			32	4259	-	Lung NSC(77;0.0605)		1328			IPT/TIG 8; atypical.|Extracellular (Potential).		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.3983T>A	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	A	16.53	3.147698	0.57151	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.87571	-2.07;-2.27	5.87	-1.18	0.09617	.	0.536026	0.18816	N	0.130369	D	0.83695	0.5310	M	0.69823	2.125	0.09310	N	0.999996	D;D	0.69078	0.996;0.997	P;P	0.62560	0.904;0.868	T	0.75068	-0.3448	10	0.59425	D	0.04	.	4.2881	0.10865	0.5092:0.0:0.134:0.3568	.	1328;1328	P08F94-2;P08F94	.;PKHD1_HUMAN	D	1328	ENSP00000360158:V1328D;ENSP00000341097:V1328D	ENSP00000341097:V1328D	V	-	2	0	PKHD1	51998584	0.000000	0.05858	0.000000	0.03702	0.056000	0.15407	0.445000	0.21677	-0.100000	0.12241	0.533000	0.62120	GTC		0.527	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		18	28	0	0	0	0.00499	0	18	28				
PKHD1	5314	broad.mit.edu	37	6	51944753	51944753	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr6:51944753C>A	ENST00000371117.3	-	5	610	c.335G>T	c.(334-336)gGg>gTg	p.G112V	PKHD1_ENST00000340994.4_Missense_Mutation_p.G112V	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	112					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)	p.G112V(2)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CAGCTGTCCCCCGAAGTATGC	0.463																																							uc003pah.1		NA																	2	Substitution - Missense(2)		lung(2)	lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44						c.(334-336)GGG>GTG		fibrocystin isoform 1							204.0	176.0	186.0					6																	51944753		2203	4300	6503	SO:0001583	missense	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51944753C>A	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.335G>T	6.37:g.51944753C>A	ENSP00000360158:p.Gly112Val					PKHD1_uc003pai.2_Missense_Mutation_p.G112V	p.G112V	NM_138694	NP_619639	P08F94	PKHD1_HUMAN			5	611	-	Lung NSC(77;0.0605)		112			Extracellular (Potential).		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.335G>T	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	C	10.76	1.442504	0.25987	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.87571	-2.07;-2.27	5.31	3.52	0.40303	.	0.801692	0.11345	N	0.573607	T	0.80160	0.4572	M	0.66939	2.045	0.30827	N	0.73718	P;B	0.45474	0.859;0.278	P;B	0.45712	0.491;0.092	T	0.71031	-0.4710	10	0.48119	T	0.1	.	7.6953	0.28592	0.0:0.7256:0.0:0.2744	.	112;112	P08F94-2;P08F94	.;PKHD1_HUMAN	V	112	ENSP00000360158:G112V;ENSP00000341097:G112V	ENSP00000341097:G112V	G	-	2	0	PKHD1	52052712	0.029000	0.19370	0.265000	0.24526	0.069000	0.16628	0.751000	0.26348	0.715000	0.32103	0.655000	0.94253	GGG		0.463	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		78	82	1	0	2.22156e-40	0.00361	4.22799e-40	78	82				
EYS	346007	broad.mit.edu	37	6	66063473	66063473	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr6:66063473C>A	ENST00000370621.3	-	9	1863	c.1337G>T	c.(1336-1338)tGg>tTg	p.W446L	EYS_ENST00000370618.3_Missense_Mutation_p.W446L|EYS_ENST00000393380.2_Missense_Mutation_p.W446L|EYS_ENST00000342421.5_Missense_Mutation_p.W446L|EYS_ENST00000503581.1_Missense_Mutation_p.W446L|EYS_ENST00000370616.2_Missense_Mutation_p.W446L			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	446					detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.W446>?(2)|p.W446L(2)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						CTTCAAAAACCAACATGGATT	0.333																																							uc011dxu.1		NA																	4	Substitution - Missense(2)|Complex(2)		lung(4)	lung(4)|ovary(1)|skin(1)	6						c.(1336-1338)TGG>TTG		eyes shut homolog isoform 1							108.0	97.0	101.0					6																	66063473		2203	4300	6503	SO:0001583	missense	346007				response to stimulus|visual perception	extracellular region	calcium ion binding	g.chr6:66063473C>A		CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"""chromosome 6 open reading frame 180"", ""EGF-like-domain, multiple 11"", ""retinitis pigmentosa 25 (autosomal recessive)"", ""EGF-like-domain, multiple 10"", ""chromosome 6 open reading frame 178"", ""chromosome 6 open reading frame 179"""	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.1337G>T	6.37:g.66063473C>A	ENSP00000359655:p.Trp446Leu					EYS_uc003peq.2_Missense_Mutation_p.W446L|EYS_uc003per.1_Missense_Mutation_p.W446L	p.W446L	NM_001142800	NP_001136272	Q5T1H1	EYS_HUMAN			9	1875	-			446					A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Missense_Mutation	SNP	ENST00000370621.3	37	c.1337G>T		.	.	.	.	.	.	.	.	.	.	c	8.413	0.844654	0.16963	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616;ENST00000393380;ENST00000342421;ENST00000370618	T;T;T;T;T;T	0.34275	1.37;1.37;1.37;1.37;1.37;1.37	4.23	-1.73	0.08081	.	.	.	.	.	T	0.06735	0.0172	N	0.24115	0.695	0.09310	N	1	B;B;B	0.12013	0.0;0.002;0.005	B;B;B	0.11329	0.001;0.006;0.002	T	0.33394	-0.9870	9	0.45353	T	0.12	.	0.7331	0.00960	0.3493:0.1987:0.2958:0.1562	.	446;446;446	Q5T1H1-1;Q5T1H1-2;Q5SZM4	.;.;.	L	446	ENSP00000424243:W446L;ENSP00000359655:W446L;ENSP00000359650:W446L;ENSP00000377042:W446L;ENSP00000341818:W446L;ENSP00000359652:W446L	ENSP00000341818:W446L	W	-	2	0	EYS	66120194	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	0.126000	0.15769	0.073000	0.16731	0.591000	0.81541	TGG		0.333	EYS-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351351.3	XM_294050		7	30	1	0	0.00198382	0.001984	0.00213417	7	30				
BAI3	577	broad.mit.edu	37	6	70065732	70065732	+	Missense_Mutation	SNP	T	T	C	rs200962523		TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr6:70065732T>C	ENST00000370598.1	+	28	4396	c.3575T>C	c.(3574-3576)gTa>gCa	p.V1192A	BAI3_ENST00000238918.8_Missense_Mutation_p.V398A|BAI3_ENST00000546190.1_Missense_Mutation_p.V156A	NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1192					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.V1192A(1)		NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				GAAAAGGATGTAGACATTGCC	0.289																																							uc003pev.3		NA																	1	Substitution - Missense(1)		lung(1)	lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1)	50						c.(3574-3576)GTA>GCA		brain-specific angiogenesis inhibitor 3							117.0	129.0	125.0					6																	70065732		2203	4297	6500	SO:0001583	missense	577				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:70065732T>C	AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"""-"", ""GPCR / Class B : Orphans"""	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.3575T>C	6.37:g.70065732T>C	ENSP00000359630:p.Val1192Ala					BAI3_uc010kak.2_Missense_Mutation_p.V1192A|BAI3_uc011dxx.1_Missense_Mutation_p.V398A	p.V1192A	NM_001704	NP_001695	O60242	BAI3_HUMAN			28	4023	+		all_lung(197;0.212)	1192			Cytoplasmic (Potential).		B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Missense_Mutation	SNP	ENST00000370598.1	37	c.3575T>C	CCDS4968.1	.	.	.	.	.	.	.	.	.	.	T	27.5	4.839627	0.91117	.	.	ENSG00000135298	ENST00000370598;ENST00000238918;ENST00000546190	T;T;T	0.56776	1.68;2.29;0.44	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.63200	0.2491	M	0.69358	2.11	0.58432	D	0.999999	P;D	0.76494	0.924;0.999	P;D	0.78314	0.9;0.991	T	0.62374	-0.6868	10	0.36615	T	0.2	.	16.0147	0.80427	0.0:0.0:0.0:1.0	.	398;1192	B7Z356;O60242	.;BAI3_HUMAN	A	1192;398;156	ENSP00000359630:V1192A;ENSP00000238918:V398A;ENSP00000441821:V156A	ENSP00000238918:V398A	V	+	2	0	BAI3	70122453	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.460000	0.80816	2.237000	0.73441	0.460000	0.39030	GTA		0.289	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1			38	45	0	0	0	0.002852	0	38	45				
SNAP91	9892	broad.mit.edu	37	6	84350818	84350818	+	Silent	SNP	T	T	G			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr6:84350818T>G	ENST00000439399.2	-	8	1078	c.762A>C	c.(760-762)gcA>gcC	p.A254A	SNAP91_ENST00000437520.1_Silent_p.A254A|SNAP91_ENST00000521743.1_Silent_p.A254A|SNAP91_ENST00000521485.1_Silent_p.A254A|SNAP91_ENST00000520213.1_Silent_p.A254A|SNAP91_ENST00000195649.6_Silent_p.A254A|SNAP91_ENST00000520302.1_Silent_p.A254A|SNAP91_ENST00000428679.2_Silent_p.A254A|SNAP91_ENST00000369694.2_Silent_p.A254A	NM_014841.2	NP_055656.1	O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	254					clathrin coat assembly (GO:0048268)|protein transport (GO:0015031)	clathrin coat (GO:0030118)|coated pit (GO:0005905)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|protein kinase binding (GO:0019901)	p.A254A(2)		breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		TACTTACCTCTGCAACCTTGA	0.299																																							uc011dze.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(760-762)GCA>GCC		synaptosomal-associated protein, 91kDa homolog							49.0	46.0	47.0					6																	84350818		1791	4051	5842	SO:0001819	synonymous_variant	9892				clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding	g.chr6:84350818T>G	AB014556	CCDS47455.1, CCDS56437.1, CCDS56438.1	6q15	2012-12-07	2012-12-07		ENSG00000065609	ENSG00000065609			14986	protein-coding gene	gene with protein product		607923	"""synaptosomal-associated protein, 91 kDa (mouse) homolog"", ""synaptosomal-associated protein, 91kDa homolog (mouse)"""			9734811, 12493563, 10436022	Standard	NM_014841		Approved	KIAA0656, AP180, CALM	uc003pka.3	O60641	OTTHUMG00000015114	ENST00000439399.2:c.762A>C	6.37:g.84350818T>G						SNAP91_uc003pkb.2_Silent_p.A219A|SNAP91_uc003pkc.2_Silent_p.A254A|SNAP91_uc003pkd.2_Silent_p.A254A|SNAP91_uc003pka.2_Silent_p.A254A|SNAP91_uc011dzf.1_Silent_p.A135A	p.A254A	NM_014841	NP_055656	O60641	AP180_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0967)	8	1079	-		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)	254					A8K0L7|E5RI02|Q5JX13|Q68DL9|Q6P9D3|Q9NTY7	Silent	SNP	ENST00000439399.2	37	c.762A>C	CCDS47455.1																																																																																				0.299	SNAP91-007	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000375296.1			2	1	0	0	0	0.004672	0	2	1				
MCHR2	84539	broad.mit.edu	37	6	100395640	100395640	+	Silent	SNP	G	G	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr6:100395640G>A	ENST00000281806.2	-	3	704	c.390C>T	c.(388-390)gaC>gaT	p.D130D	MCHR2_ENST00000369212.2_Silent_p.D130D	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN	melanin-concentrating hormone receptor 2	130						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.D130D(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		TCACTTACCTGTCCACACTCA	0.443																																							uc003pqh.1		NA																	1	Substitution - coding silent(1)		lung(1)	lung(3)|ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	8						c.(388-390)GAC>GAT		melanin-concentrating hormone receptor 2							131.0	142.0	138.0					6																	100395640		2203	4300	6503	SO:0001819	synonymous_variant	84539					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:100395640G>A	AF347063	CCDS5044.1	6q16	2012-08-08	2006-02-15	2006-02-15	ENSG00000152034	ENSG00000152034		"""GPCR / Class A : MCH receptors"""	20867	protein-coding gene	gene with protein product		606111	"""G protein-coupled receptor 145"""	GPR145		11355873, 11274220	Standard	NM_032503		Approved	SLT, MCH2, MCH2R	uc003pqi.1	Q969V1	OTTHUMG00000015270	ENST00000281806.2:c.390C>T	6.37:g.100395640G>A						MCHR2_uc003pqi.1_Silent_p.D130D	p.D130D	NM_001040179	NP_001035269	Q969V1	MCHR2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0429)	3	705	-		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)	130			Cytoplasmic (Potential).		B3KVW4|E1P5D7|Q5VTV7|Q6Q377|Q9BXA8	Silent	SNP	ENST00000281806.2	37	c.390C>T	CCDS5044.1																																																																																				0.443	MCHR2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041620.2	NM_032503		60	94	0	0	0	0.00361	0	60	94				
REV3L	5980	broad.mit.edu	37	6	111695587	111695587	+	Missense_Mutation	SNP	C	C	G			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr6:111695587C>G	ENST00000358835.3	-	14	4425	c.3971G>C	c.(3970-3972)tGt>tCt	p.C1324S	REV3L_ENST00000435970.1_Missense_Mutation_p.C1246S|REV3L_ENST00000368802.3_Missense_Mutation_p.C1324S|REV3L_ENST00000368805.1_Missense_Mutation_p.C1324S			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	1324					DNA-dependent DNA replication (GO:0006261)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nucleus (GO:0005634)|zeta DNA polymerase complex (GO:0016035)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)	p.C1246S(1)|p.C1324S(1)		NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		TATAGAATTACAAACAACTGA	0.348								DNA polymerases (catalytic subunits)																															uc003puy.3		NA																	2	Substitution - Missense(2)		lung(2)	large_intestine(2)|ovary(2)|skin(2)	6						c.(3970-3972)TGT>TCT	DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage	DNA polymerase zeta							73.0	77.0	75.0					6																	111695587		2203	4298	6501	SO:0001583	missense	5980				DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding	g.chr6:111695587C>G	AF058701	CCDS5091.2, CCDS69177.1	6q22	2012-05-18	2012-05-18		ENSG00000009413	ENSG00000009413		"""DNA polymerases"""	9968	protein-coding gene	gene with protein product	"""polymerase, DNA, zeta"""	602776	"""REV3 (yeast homolog)-like, catalytic subunit of DNA polymerase zeta"", ""REV3-like, catalytic subunit of DNA polymerase zeta (yeast)"""			9618506, 9925914	Standard	NM_001286431		Approved	POLZ, REV3	uc003puy.4	O60673	OTTHUMG00000016318	ENST00000358835.3:c.3971G>C	6.37:g.111695587C>G	ENSP00000351697:p.Cys1324Ser					REV3L_uc003pux.3_Missense_Mutation_p.C1246S|REV3L_uc003puz.3_Missense_Mutation_p.C1246S	p.C1324S	NM_002912	NP_002903	O60673	DPOLZ_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)	13	4294	-		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)	1324					O43214|Q5TC33	Missense_Mutation	SNP	ENST00000358835.3	37	c.3971G>C	CCDS5091.2	.	.	.	.	.	.	.	.	.	.	C	0.026	-1.371028	0.01225	.	.	ENSG00000009413	ENST00000368802;ENST00000368805;ENST00000358835;ENST00000435970	T;T;T;T	0.01287	5.14;5.14;5.14;5.05	5.46	3.6	0.41247	Ribonuclease H-like (1);	0.683009	0.14850	N	0.294738	T	0.00241	0.0007	N	0.03324	-0.35	0.28862	N	0.895456	B	0.02656	0.0	B	0.01281	0.0	T	0.40776	-0.9545	10	0.02654	T	1	.	6.8065	0.23780	0.0:0.649:0.2494:0.1016	.	1324	O60673	DPOLZ_HUMAN	S	1324;1324;1324;1246	ENSP00000357792:C1324S;ENSP00000357795:C1324S;ENSP00000351697:C1324S;ENSP00000402003:C1246S	ENSP00000351697:C1324S	C	-	2	0	REV3L	111802280	1.000000	0.71417	1.000000	0.80357	0.623000	0.37688	1.789000	0.38724	1.511000	0.48818	0.655000	0.94253	TGT		0.348	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043695.1	NM_002912		12	123	0	0	0	0.000978	0	12	123				
LAMA4	3910	broad.mit.edu	37	6	112439054	112439054	+	Silent	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr6:112439054G>T	ENST00000230538.7	-	35	5266	c.4869C>A	c.(4867-4869)ctC>ctA	p.L1623L	LAMA4_ENST00000424408.2_Silent_p.L1616L|LAMA4_ENST00000522006.1_Silent_p.L1616L|LAMA4_ENST00000389463.4_Silent_p.L1616L	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	1623	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)	extracellular matrix structural constituent (GO:0005201)	p.L1616L(1)		NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		AGGCCCCATTGAGCTGGAGAT	0.433																																							uc003pvu.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(4)|breast(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	9						c.(4867-4869)CTC>CTA		laminin, alpha 4 isoform 1 precursor							95.0	93.0	93.0					6																	112439054		2203	4300	6503	SO:0001819	synonymous_variant	3910				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding	g.chr6:112439054G>T		CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769		"""Laminins"""	6484	protein-coding gene	gene with protein product		600133				7959779	Standard	NM_001105206		Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.4869C>A	6.37:g.112439054G>T						LAMA4_uc003pvv.2_Silent_p.L1616L|LAMA4_uc003pvt.2_Silent_p.L1616L	p.L1623L	NM_001105206	NP_001098676	Q16363	LAMA4_HUMAN		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)	35	5178	-		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)	1623			Laminin G-like 4.		Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Silent	SNP	ENST00000230538.7	37	c.4869C>A	CCDS43491.1																																																																																				0.433	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041876.2	NM_001105206		13	94	1	0	7.03913e-09	0.001368	9.30658e-09	13	94				
GJA1	2697	broad.mit.edu	37	6	121769099	121769099	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr6:121769099G>A	ENST00000282561.3	+	2	1263	c.1106G>A	c.(1105-1107)aGt>aAt	p.S369N		NM_000165.3	NP_000156.1	P17302	CXA1_HUMAN	gap junction protein, alpha 1, 43kDa	369					adult heart development (GO:0007512)|apoptotic process (GO:0006915)|ATP transport (GO:0015867)|atrial cardiac muscle cell action potential (GO:0086014)|atrial ventricular junction remodeling (GO:0003294)|blood vessel morphogenesis (GO:0048514)|cell communication by chemical coupling (GO:0010643)|cell communication by electrical coupling (GO:0010644)|cell-cell signaling (GO:0007267)|cellular response to mechanical stimulus (GO:0071260)|chronic inflammatory response (GO:0002544)|embryonic digit morphogenesis (GO:0042733)|endothelium development (GO:0003158)|epithelial cell maturation (GO:0002070)|gap junction assembly (GO:0016264)|heart development (GO:0007507)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|lens development in camera-type eye (GO:0002088)|membrane organization (GO:0061024)|milk ejection (GO:0060156)|muscle contraction (GO:0006936)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of gene expression (GO:0010629)|neuron migration (GO:0001764)|neuron projection morphogenesis (GO:0048812)|osteoblast differentiation (GO:0001649)|positive regulation of behavioral fear response (GO:2000987)|positive regulation of cell communication by chemical coupling (GO:0010652)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of gene expression (GO:0010628)|positive regulation of glomerular filtration (GO:0003104)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of striated muscle tissue development (GO:0045844)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein oligomerization (GO:0051259)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of bone mineralization (GO:0030500)|regulation of bone remodeling (GO:0046850)|regulation of calcium ion transport (GO:0051924)|regulation of tight junction assembly (GO:2000810)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to fluid shear stress (GO:0034405)|response to peptide hormone (GO:0043434)|response to pH (GO:0009268)|signal transduction (GO:0007165)|skeletal muscle tissue regeneration (GO:0043403)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vascular transport (GO:0010232)	apical plasma membrane (GO:0016324)|connexon complex (GO:0005922)|contractile fiber (GO:0043292)|cytosol (GO:0005829)|early endosome (GO:0005769)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|gap junction (GO:0005921)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle membrane (GO:0030660)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial outer membrane (GO:0005741)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)	gap junction channel activity (GO:0005243)|ion transmembrane transporter activity (GO:0015075)|signal transducer activity (GO:0004871)	p.S369N(1)		autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(2)|large_intestine(10)|liver(2)|lung(13)|ovary(2)	33				GBM - Glioblastoma multiforme(226;0.00252)	Carvedilol(DB01136)	AGAGCCAGCAGTCGTGCCAGC	0.483																																							uc003pyr.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1105-1107)AGT>AAT		connexin 43	Carvedilol(DB01136)						63.0	67.0	66.0					6																	121769099		2203	4293	6496	SO:0001583	missense	2697				cell-cell signaling|cellular membrane organization|gap junction assembly|heart development|muscle contraction|positive regulation of I-kappaB kinase/NF-kappaB cascade	connexon complex|Golgi-associated vesicle membrane|integral to plasma membrane|membrane raft	ion transmembrane transporter activity|signal transducer activity	g.chr6:121769099G>A	BC026329	CCDS5123.1	6q22.31	2013-05-10	2007-01-16		ENSG00000152661	ENSG00000152661		"""Ion channels / Gap junction proteins (connexins)"""	4274	protein-coding gene	gene with protein product	"""oculodentodigital dysplasia (syndactyly type III)"", ""connexin 43"""	121014	"""gap junction protein, alpha-like"", ""gap junction protein, alpha 1, 43kDa (connexin 43)"""	ODDD, GJAL		10331943, 1646158	Standard	NM_000165		Approved	CX43, ODD, ODOD, SDTY3	uc003pyr.3	P17302	OTTHUMG00000015479	ENST00000282561.3:c.1106G>A	6.37:g.121769099G>A	ENSP00000282561:p.Ser369Asn					GJA1_uc011ebo.1_Missense_Mutation_p.S270N|GJA1_uc011ebp.1_Missense_Mutation_p.S157N	p.S369N	NM_000165	NP_000156	P17302	CXA1_HUMAN		GBM - Glioblastoma multiforme(226;0.00252)	2	1356	+			369			Cytoplasmic (Potential).		B2R5U9|Q6FHU1|Q9Y5I8	Missense_Mutation	SNP	ENST00000282561.3	37	c.1106G>A	CCDS5123.1	.	.	.	.	.	.	.	.	.	.	G	16.18	3.051689	0.55218	.	.	ENSG00000152661	ENST00000440608;ENST00000282561	D	0.81739	-1.53	4.88	4.88	0.63580	.	0.000000	0.85682	D	0.000000	T	0.73210	0.3558	N	0.24115	0.695	0.58432	D	0.999993	B	0.31752	0.338	P	0.44732	0.459	T	0.76955	-0.2767	10	0.62326	D	0.03	.	18.5905	0.91210	0.0:0.0:1.0:0.0	.	369	P17302	CXA1_HUMAN	N	353;369	ENSP00000282561:S369N	ENSP00000282561:S369N	S	+	2	0	GJA1	121810798	1.000000	0.71417	0.974000	0.42286	0.939000	0.58152	6.171000	0.71926	2.694000	0.91930	0.585000	0.79938	AGT		0.483	GJA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042023.1	NM_000165		16	45	0	0	0	0.006122	0	16	45				
TRMT11	60487	broad.mit.edu	37	6	126319418	126319418	+	Missense_Mutation	SNP	T	T	C			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr6:126319418T>C	ENST00000334379.5	+	5	465	c.344T>C	c.(343-345)tTt>tCt	p.F115S	TRMT11_ENST00000450358.1_Missense_Mutation_p.F115S|TRMT11_ENST00000368332.3_Missense_Mutation_p.F115S	NM_001031712.2	NP_001026882.2	Q7Z4G4	TRM11_HUMAN	tRNA methyltransferase 11 homolog (S. cerevisiae)	115					tRNA processing (GO:0008033)		methyltransferase activity (GO:0008168)|tRNA binding (GO:0000049)	p.F115S(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				GBM - Glioblastoma multiforme(226;0.0356)		ATTCACACTTTTAATAAGACA	0.294																																							uc003qam.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(343-345)TTT>TCT		tRNA methyltransferase 11							42.0	42.0	42.0					6																	126319418		2171	4289	6460	SO:0001583	missense	60487				tRNA processing		methyltransferase activity|nucleic acid binding	g.chr6:126319418T>C	AF182423	CCDS35496.1	6q11.1-q22.33	2009-06-15	2006-11-28	2006-11-28	ENSG00000066651	ENSG00000066651			21080	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 75"""	C6orf75			Standard	XM_006715546		Approved	MDS024, dJ187J11.2, TRM11, TRMT11-1	uc003qam.3	Q7Z4G4	OTTHUMG00000015515	ENST00000334379.5:c.344T>C	6.37:g.126319418T>C	ENSP00000333934:p.Phe115Ser					TRMT11_uc003qan.2_RNA|TRMT11_uc010kev.2_Missense_Mutation_p.F115S	p.F115S	NM_001031712	NP_001026882	Q7Z4G4	TRM11_HUMAN		GBM - Glioblastoma multiforme(226;0.0356)	5	465	+			115					E1P570|Q5JY11|Q6PGQ5|Q9HC13	Missense_Mutation	SNP	ENST00000334379.5	37	c.344T>C	CCDS35496.1	.	.	.	.	.	.	.	.	.	.	T	26.1	4.701566	0.88924	.	.	ENSG00000066651	ENST00000334379;ENST00000450358;ENST00000368332;ENST00000444121;ENST00000446681	T;T;T;T;T	0.47869	0.83;0.83;0.83;0.83;0.83	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.68081	0.2962	M	0.89478	3.035	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.75484	0.986;0.973	T	0.72354	-0.4319	10	0.44086	T	0.13	-22.9143	16.4237	0.83790	0.0:0.0:0.0:1.0	.	115;115	Q7Z4G4-2;Q7Z4G4	.;TRM11_HUMAN	S	115;115;115;52;52	ENSP00000333934:F115S;ENSP00000405140:F115S;ENSP00000357316:F115S;ENSP00000406230:F52S;ENSP00000415724:F52S	ENSP00000333934:F115S	F	+	2	0	TRMT11	126361111	1.000000	0.71417	0.997000	0.53966	0.973000	0.67179	4.989000	0.63870	2.279000	0.76181	0.533000	0.62120	TTT		0.294	TRMT11-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_021820		3	19	0	0	0	0.004672	0	3	19				
EPB41L2	2037	broad.mit.edu	37	6	131247753	131247753	+	Nonsense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr6:131247753C>A	ENST00000337057.3	-	4	983	c.802G>T	c.(802-804)Gag>Tag	p.E268*	EPB41L2_ENST00000445890.2_Nonsense_Mutation_p.E268*|EPB41L2_ENST00000530148.1_5'UTR|EPB41L2_ENST00000525271.1_Nonsense_Mutation_p.E268*|EPB41L2_ENST00000528282.1_Nonsense_Mutation_p.E268*|EPB41L2_ENST00000529208.1_Nonsense_Mutation_p.E268*|EPB41L2_ENST00000527411.1_Nonsense_Mutation_p.E268*|EPB41L2_ENST00000392427.3_Nonsense_Mutation_p.E268*|EPB41L2_ENST00000527659.1_Nonsense_Mutation_p.E268*|EPB41L2_ENST00000530481.1_Nonsense_Mutation_p.E268*|EPB41L2_ENST00000368128.2_Nonsense_Mutation_p.E268*|EPB41L2_ENST00000525193.1_Nonsense_Mutation_p.E268*	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	268	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				cortical actin cytoskeleton organization (GO:0030866)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|spectrin (GO:0008091)	structural molecule activity (GO:0005198)	p.E268*(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		ACTTTCTGCTCAGGGCTTTCC	0.313																																							uc003qch.2		NA																	1	Substitution - Nonsense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(802-804)GAG>TAG		erythrocyte membrane protein band 4.1-like 2							107.0	106.0	106.0					6																	131247753		2203	4300	6503	SO:0001587	stop_gained	2037				cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity	g.chr6:131247753C>A	AF027299	CCDS5141.1, CCDS47474.1, CCDS56450.1, CCDS59037.1	6q23	2008-08-29			ENSG00000079819	ENSG00000079819			3379	protein-coding gene	gene with protein product		603237				9598318, 9828140	Standard	NM_001431		Approved	4.1-G	uc003qch.2	O43491	OTTHUMG00000015560	ENST00000337057.3:c.802G>T	6.37:g.131247753C>A	ENSP00000338481:p.Glu268*					EPB41L2_uc003qcg.1_Nonsense_Mutation_p.E268*|EPB41L2_uc011eby.1_Nonsense_Mutation_p.E268*|EPB41L2_uc003qci.2_Nonsense_Mutation_p.E268*|EPB41L2_uc010kfk.2_Nonsense_Mutation_p.E268*|EPB41L2_uc010kfl.1_Nonsense_Mutation_p.E268*	p.E268*	NM_001431	NP_001422	O43491	E41L2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)	4	984	-	Breast(56;0.0639)		268			FERM.		B4DHI8|E9PPD9|Q5T4F0|Q68DV2	Nonsense_Mutation	SNP	ENST00000337057.3	37	c.802G>T	CCDS5141.1	.	.	.	.	.	.	.	.	.	.	C	15.37	2.813966	0.50527	.	.	ENSG00000079819	ENST00000528282;ENST00000530481;ENST00000445890;ENST00000337057;ENST00000392427;ENST00000425439;ENST00000368128;ENST00000527411;ENST00000525271;ENST00000525193;ENST00000527659;ENST00000529208	.	.	.	5.17	4.3	0.51218	.	0.406531	0.25929	N	0.027391	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	.	8.4379	0.32797	0.1526:0.7686:0.0:0.0788	.	.	.	.	X	268	.	ENSP00000338481:E268X	E	-	1	0	EPB41L2	131289446	1.000000	0.71417	0.839000	0.33178	0.046000	0.14306	3.492000	0.53259	1.191000	0.43056	-0.258000	0.10820	GAG		0.313	EPB41L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042204.3			15	85	1	0	3.45872e-05	0.004007	4.03057e-05	15	85				
VNN1	8876	broad.mit.edu	37	6	133004338	133004338	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr6:133004338G>T	ENST00000367928.4	-	7	1496	c.1483C>A	c.(1483-1485)Caa>Aaa	p.Q495K		NM_004666.2	NP_004657.2	O95497	VNN1_HUMAN	vanin 1	495					acute inflammatory response (GO:0002526)|cellular component movement (GO:0006928)|chronic inflammatory response (GO:0002544)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|pantothenate metabolic process (GO:0015939)|positive regulation of T cell differentiation in thymus (GO:0033089)|response to oxidative stress (GO:0006979)|single organismal cell-cell adhesion (GO:0016337)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	GPI anchor binding (GO:0034235)|pantetheine hydrolase activity (GO:0017159)	p.Q495K(1)		NS(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	31	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.0027)|GBM - Glioblastoma multiforme(226;0.0189)		ATTCTTGCTTGTGCTGTGAGG	0.368																																							uc003qdo.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(1483-1485)CAA>AAA		vanin 1 precursor							142.0	130.0	134.0					6																	133004338		2203	4300	6503	SO:0001583	missense	8876				acute inflammatory response|anti-apoptosis|cell-cell adhesion|cellular component movement|chronic inflammatory response|innate immune response|pantothenate metabolic process|positive regulation of T cell differentiation in thymus|response to oxidative stress	anchored to membrane|integral to membrane|plasma membrane	GPI anchor binding|pantetheine hydrolase activity	g.chr6:133004338G>T	AJ132099	CCDS5159.1	6q23-q24	2013-02-13			ENSG00000112299	ENSG00000112299	3.5.1.92	"""Vanins"""	12705	protein-coding gene	gene with protein product		603570				9790769	Standard	NM_004666		Approved	Tiff66	uc003qdo.3	O95497	OTTHUMG00000015587	ENST00000367928.4:c.1483C>A	6.37:g.133004338G>T	ENSP00000356905:p.Gln495Lys					VNN1_uc003qdn.2_RNA	p.Q495K	NM_004666	NP_004657	O95497	VNN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0027)|GBM - Glioblastoma multiforme(226;0.0189)	7	1503	-	Breast(56;0.135)		495					A8K310|Q4JFW6|Q4VAS7|Q4VAS8|Q4VAS9|Q9UF16|Q9UJF4	Missense_Mutation	SNP	ENST00000367928.4	37	c.1483C>A	CCDS5159.1	.	.	.	.	.	.	.	.	.	.	G	9.397	1.076906	0.20227	.	.	ENSG00000112299	ENST00000367928	D	0.87887	-2.31	5.86	0.801	0.18679	.	1.441080	0.03976	N	0.292500	T	0.67116	0.2859	L	0.43152	1.355	0.09310	N	1	B	0.20887	0.049	B	0.19666	0.026	T	0.52990	-0.8501	10	0.25751	T	0.34	-25.951	5.7995	0.18406	0.2377:0.2786:0.4837:0.0	.	495	O95497	VNN1_HUMAN	K	495	ENSP00000356905:Q495K	ENSP00000356905:Q495K	Q	-	1	0	VNN1	133046031	0.001000	0.12720	0.001000	0.08648	0.015000	0.08874	0.362000	0.20284	0.390000	0.25115	0.650000	0.86243	CAA		0.368	VNN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042263.1			16	58	1	0	6.49762e-13	0.006122	9.94097e-13	16	58				
ALDH8A1	64577	broad.mit.edu	37	6	135250221	135250221	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr6:135250221C>A	ENST00000265605.2	-	6	1050	c.982G>T	c.(982-984)Gct>Tct	p.A328S	ALDH8A1_ENST00000367845.2_Intron|ALDH8A1_ENST00000367847.2_Missense_Mutation_p.A278S	NM_022568.3	NP_072090.1	Q9H2A2	AL8A1_HUMAN	aldehyde dehydrogenase 8 family, member A1	328					9-cis-retinoic acid biosynthetic process (GO:0042904)|retinal metabolic process (GO:0042574)|retinoic acid metabolic process (GO:0042573)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)	retinal dehydrogenase activity (GO:0001758)	p.A328S(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	36	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00401)|GBM - Glioblastoma multiforme(68;0.0058)		CTTATCAGAGCACCTATGCTC	0.388																																							uc003qew.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)|skin(1)	4						c.(982-984)GCT>TCT		aldehyde dehydrogenase 8A1 isoform 1							96.0	92.0	94.0					6																	135250221		2203	4300	6503	SO:0001583	missense	64577				retinal metabolic process	cytoplasm	retinal dehydrogenase activity	g.chr6:135250221C>A	AL021939	CCDS5171.1, CCDS5172.1, CCDS55057.1	6q24.1-q25.1	2008-07-03			ENSG00000118514	ENSG00000118514		"""Aldehyde dehydrogenases"""	15471	protein-coding gene	gene with protein product		606467				11007799	Standard	NM_001193480		Approved	ALDH12	uc003qew.3	Q9H2A2	OTTHUMG00000015623	ENST00000265605.2:c.982G>T	6.37:g.135250221C>A	ENSP00000265605:p.Ala328Ser					ALDH8A1_uc003qex.2_Intron|ALDH8A1_uc010kgh.2_Intron|ALDH8A1_uc011ecx.1_Missense_Mutation_p.A278S	p.A328S	NM_022568	NP_072090	Q9H2A2	AL8A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00401)|GBM - Glioblastoma multiforme(68;0.0058)	6	1035	-	Colorectal(23;0.221)		328					B7Z521|O60793|Q24JS9|Q53GT3|Q5TI80	Missense_Mutation	SNP	ENST00000265605.2	37	c.982G>T	CCDS5171.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.519712	0.85495	.	.	ENSG00000118514	ENST00000265605;ENST00000367847	T;T	0.78003	-1.14;-1.14	5.76	5.76	0.90799	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.000000	0.85682	D	0.000000	D	0.82536	0.5058	L	0.45744	1.44	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.80764	0.994;0.984	T	0.79699	-0.1694	10	0.38643	T	0.18	.	19.9576	0.97228	0.0:1.0:0.0:0.0	.	278;328	B7Z521;Q9H2A2	.;AL8A1_HUMAN	S	328;278	ENSP00000265605:A328S;ENSP00000356821:A278S	ENSP00000265605:A328S	A	-	1	0	ALDH8A1	135291914	1.000000	0.71417	0.996000	0.52242	0.625000	0.37756	5.769000	0.68865	2.736000	0.93811	0.655000	0.94253	GCT		0.388	ALDH8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042334.2			11	54	1	0	6.40141e-05	0.000978	7.26916e-05	11	54				
KIAA1244	57221	broad.mit.edu	37	6	138584671	138584671	+	Missense_Mutation	SNP	T	T	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr6:138584671T>A	ENST00000251691.4	+	12	2217	c.2051T>A	c.(2050-2052)cTc>cAc	p.L684H		NM_020340.4	NP_065073.3			KIAA1244									p.L613H(1)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		GAAGGCCTCCTCCCTCGGCTC	0.557																																							uc003qhu.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(2050-2052)CTC>CAC		brefeldin A-inhibited guanine							46.0	51.0	49.0					6																	138584671		2203	4299	6502	SO:0001583	missense	57221				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity	g.chr6:138584671T>A	AB033070	CCDS5189.2	6q23.3	2012-04-17			ENSG00000112379	ENSG00000112379		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	21213	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 33"""		"""chromosome 6 open reading frame 92"""	C6orf92			Standard	NM_020340		Approved	dJ171N11.1, BIG3, PPP1R33	uc003qhu.3	Q5TH69	OTTHUMG00000015670	ENST00000251691.4:c.2051T>A	6.37:g.138584671T>A	ENSP00000251691:p.Leu684His						p.L684H	NM_020340	NP_065073	Q5TH69	BIG3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)	12	2051	+	Breast(32;0.135)		684			SEC7.			Missense_Mutation	SNP	ENST00000251691.4	37	c.2051T>A	CCDS5189.2	.	.	.	.	.	.	.	.	.	.	T	19.37	3.814008	0.70912	.	.	ENSG00000112379	ENST00000251691	T	0.56103	0.48	5.47	5.47	0.80525	SEC7-like (1);	153.712000	0.00166	N	0.000000	T	0.65893	0.2735	M	0.66939	2.045	0.53688	D	0.999979	D	0.76494	0.999	P	0.60789	0.879	T	0.51655	-0.8678	10	0.87932	D	0	-13.2293	15.5449	0.76090	0.0:0.0:0.0:1.0	.	684	Q5TH69	BIG3_HUMAN	H	684	ENSP00000251691:L684H	ENSP00000251691:L684H	L	+	2	0	KIAA1244	138626364	1.000000	0.71417	0.957000	0.39632	0.698000	0.40448	7.685000	0.84117	2.078000	0.62432	0.533000	0.62120	CTC		0.557	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042425.4	NM_020340		7	53	0	0	0	0.00308	0	7	53				
TXLNB	167838	broad.mit.edu	37	6	139569031	139569031	+	Nonsense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr6:139569031C>A	ENST00000358430.3	-	8	1325	c.1093G>T	c.(1093-1095)Gga>Tga	p.G365*	RP1-225E12.3_ENST00000585874.1_RNA	NM_153235.3	NP_694967.3	Q8N3L3	TXLNB_HUMAN	taxilin beta	365						cytoplasm (GO:0005737)		p.G365*(1)		breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37				OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)		TCAAACCTTCCTGAGTAGAGA	0.378																																							uc011eds.1		NA																	1	Substitution - Nonsense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(1093-1095)GGA>TGA		taxilin beta							136.0	134.0	134.0					6																	139569031		2203	4300	6503	SO:0001587	stop_gained	167838					cytoplasm		g.chr6:139569031C>A		CCDS34545.1	6q23.3	2008-02-05	2005-07-29	2005-07-29	ENSG00000164440	ENSG00000164440			21617	protein-coding gene	gene with protein product		611438	"""chromosome 6 open reading frame 198"""	C6orf198		15184072	Standard	NM_153235		Approved	DKFZp451A175, MDP77, dJ522B19.2	uc021zfy.1	Q8N3L3	OTTHUMG00000015688	ENST00000358430.3:c.1093G>T	6.37:g.139569031C>A	ENSP00000351206:p.Gly365*						p.G365*	NM_153235	NP_694967	Q8N3L3	TXLNB_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)	8	1258	-			365					Q5VTF3|Q76L25|Q86T52|Q8N3S2	Nonsense_Mutation	SNP	ENST00000358430.3	37	c.1093G>T	CCDS34545.1	.	.	.	.	.	.	.	.	.	.	C	40	7.916110	0.98560	.	.	ENSG00000164440	ENST00000358430	.	.	.	5.22	5.22	0.72569	.	0.284222	0.39985	N	0.001215	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-17.507	18.736	0.91755	0.0:1.0:0.0:0.0	.	.	.	.	X	365	.	.	G	-	1	0	TXLNB	139610724	0.988000	0.35896	0.994000	0.49952	0.969000	0.65631	2.756000	0.47549	2.584000	0.87258	0.655000	0.94253	GGA		0.378	TXLNB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042458.1	NM_153235		29	52	1	0	1.88708e-17	0.008361	3.19305e-17	29	52				
AIG1	51390	broad.mit.edu	37	6	143605319	143605319	+	Nonsense_Mutation	SNP	G	G	T	rs115165047		TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr6:143605319G>T	ENST00000275235.4	+	4	497	c.472G>T	c.(472-474)Gga>Tga	p.G158*	AIG1_ENST00000357847.4_Nonsense_Mutation_p.G158*|AIG1_ENST00000344492.5_Nonsense_Mutation_p.G106*			Q9NVV5	AIG1_HUMAN	androgen-induced 1	158						integral component of membrane (GO:0016021)		p.G158*(1)		endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(155;2.34e-05)|GBM - Glioblastoma multiforme(68;0.0246)		CAGGAGCAGCGGACTTACCGC	0.443																																							uc003qjh.2		NA																	1	Substitution - Nonsense(1)		lung(1)		0						c.(472-474)GGA>TGA		androgen-induced 1							130.0	105.0	114.0					6																	143605319		2203	4300	6503	SO:0001587	stop_gained	51390					integral to membrane		g.chr6:143605319G>T	AF153605	CCDS5198.1, CCDS69216.1	6q24.1	2008-02-05			ENSG00000146416	ENSG00000146416			21607	protein-coding gene	gene with protein product		608514				11266118	Standard	NM_001286587		Approved	dJ95L4.1, AIG-1, FLJ10485	uc003qjh.3	Q9NVV5	OTTHUMG00000015721	ENST00000275235.4:c.472G>T	6.37:g.143605319G>T	ENSP00000275235:p.Gly158*					AIG1_uc003qjf.2_Nonsense_Mutation_p.G148*|AIG1_uc003qji.2_Nonsense_Mutation_p.G96*	p.G158*	NM_016108	NP_057192	Q9NVV5	AIG1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;2.34e-05)|GBM - Glioblastoma multiforme(68;0.0246)	4	512	+			158					B4DPX2|C9J569|Q5T2H2|Q6N047|Q7Z378|Q8TB14|Q9Y3A9|Q9Y5B4	Nonsense_Mutation	SNP	ENST00000275235.4	37	c.472G>T		.	.	.	.	.	.	.	.	.	.	G	37	6.272817	0.97431	.	.	ENSG00000146416	ENST00000367601;ENST00000419072;ENST00000447498;ENST00000357847;ENST00000344492;ENST00000275235;ENST00000458219	.	.	.	5.78	5.78	0.91487	.	0.108387	0.64402	D	0.000009	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-7.1302	19.0006	0.92832	0.0:0.0:1.0:0.0	.	.	.	.	X	154;154;106;158;106;158;70	.	ENSP00000275235:G158X	G	+	1	0	AIG1	143647012	1.000000	0.71417	0.972000	0.41901	0.975000	0.68041	6.257000	0.72480	2.749000	0.94314	0.655000	0.94253	GGA		0.443	AIG1-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000042510.1	NM_016108		10	27	1	0	3.07112e-06	0.000978	3.68823e-06	10	27				
SF3B5	83443	broad.mit.edu	37	6	144416564	144416564	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr6:144416564G>A	ENST00000367569.2	-	1	190	c.71C>T	c.(70-72)gCc>gTc	p.A24V		NM_031287.2	NP_112577.1	Q9BWJ5	SF3B5_HUMAN	splicing factor 3b, subunit 5, 10kDa	24					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U12-type spliceosomal complex (GO:0005689)		p.A24V(1)		lung(2)|prostate(1)	3				OV - Ovarian serous cystadenocarcinoma(155;1.68e-06)|GBM - Glioblastoma multiforme(68;0.0638)		GGTGGTGTCGGCGTGGCCCGT	0.597																																							uc003qkr.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(70-72)GCC>GTC		SF3b10							85.0	70.0	75.0					6																	144416564		2203	4300	6503	SO:0001583	missense	83443				nuclear mRNA splicing, via spliceosome	nucleoplasm|U12-type spliceosomal complex		g.chr6:144416564G>A	BC000198	CCDS5204.1	6q24.1	2010-01-26			ENSG00000169976	ENSG00000169976			21083	protein-coding gene	gene with protein product						12234937	Standard	NM_031287		Approved	SF3b10, MGC3133, Ysf3	uc003qkr.1	Q9BWJ5	OTTHUMG00000015737	ENST00000367569.2:c.71C>T	6.37:g.144416564G>A	ENSP00000356541:p.Ala24Val						p.A24V	NM_031287	NP_112577	Q9BWJ5	SF3B5_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.68e-06)|GBM - Glioblastoma multiforme(68;0.0638)	1	191	-			24					B2R568|Q7RTV1	Missense_Mutation	SNP	ENST00000367569.2	37	c.71C>T	CCDS5204.1	.	.	.	.	.	.	.	.	.	.	G	36	5.970673	0.97156	.	.	ENSG00000169976	ENST00000367569	.	.	.	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.71609	0.3360	.	.	.	0.80722	D	1	D	0.56035	0.974	P	0.57846	0.828	T	0.71656	-0.4527	8	0.54805	T	0.06	.	19.2635	0.93977	0.0:0.0:1.0:0.0	.	24	Q9BWJ5	SF3B5_HUMAN	V	24	.	ENSP00000356541:A24V	A	-	2	0	SF3B5	144458257	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.569000	0.98170	2.882000	0.98803	0.655000	0.94253	GCC		0.597	SF3B5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042537.1	NM_031287		3	30	0	0	0	0.004672	0	3	30				
OPRM1	4988	broad.mit.edu	37	6	154410984	154410984	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr6:154410984C>A	ENST00000330432.7	+	2	551	c.314C>A	c.(313-315)aCc>aAc	p.T105N	OPRM1_ENST00000337049.4_Missense_Mutation_p.T105N|OPRM1_ENST00000360422.4_Missense_Mutation_p.T105N|OPRM1_ENST00000518759.1_Missense_Mutation_p.T24N|OPRM1_ENST00000419506.2_Missense_Mutation_p.T105N|OPRM1_ENST00000522236.1_Missense_Mutation_p.T5N|OPRM1_ENST00000452687.2_Missense_Mutation_p.T105N|OPRM1_ENST00000520708.1_Missense_Mutation_p.T5N|OPRM1_ENST00000524163.1_Missense_Mutation_p.T105N|OPRM1_ENST00000435918.2_Missense_Mutation_p.T105N|OPRM1_ENST00000414028.2_Missense_Mutation_p.T105N|OPRM1_ENST00000229768.5_Missense_Mutation_p.T105N|OPRM1_ENST00000428397.2_Missense_Mutation_p.T105N|OPRM1_ENST00000434900.2_Missense_Mutation_p.T198N|OPRM1_ENST00000522555.1_Missense_Mutation_p.T5N	NM_000914.3	NP_000905.3	P35372	OPRM_HUMAN	opioid receptor, mu 1	105					adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|behavioral response to ethanol (GO:0048149)|calcium ion transmembrane transport (GO:0070588)|cellular response to stress (GO:0033554)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|locomotory behavior (GO:0007626)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of Wnt protein secretion (GO:0061358)|neuropeptide signaling pathway (GO:0007218)|opioid receptor signaling pathway (GO:0038003)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neurogenesis (GO:0050769)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-endorphin receptor activity (GO:0004979)|G-protein alpha-subunit binding (GO:0001965)|G-protein coupled receptor activity (GO:0004930)|morphine receptor activity (GO:0038047)|voltage-gated calcium channel activity (GO:0005245)	p.T105N(2)|p.T198N(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	33		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	Alfentanil(DB00802)|Alvimopan(DB06274)|Amitriptyline(DB00321)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Ethylmorphine(DB01466)|Fentanyl(DB00813)|Heroin(DB01452)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Ketamine(DB01221)|Ketobemidone(DB06738)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Methylnaltrexone(DB06800)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Ondansetron(DB00904)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Pethidine(DB00454)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tapentadol(DB06204)|Tramadol(DB00193)	AAGACTGCCACCAACATCTAC	0.413																																							uc003qpr.2		NA																	3	Substitution - Missense(3)		lung(3)	ovary(1)	1						c.(313-315)ACC>AAC		opioid receptor, mu 1 isoform MOR-1	Alfentanil(DB00802)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tramadol(DB00193)						96.0	91.0	92.0					6																	154410984		2038	4237	6275	SO:0001583	missense	4988				behavior|negative regulation of cell proliferation|sensory perception	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	mu-opioid receptor activity|protein binding	g.chr6:154410984C>A	L29301	CCDS43517.1, CCDS43518.1, CCDS47503.1, CCDS47504.1, CCDS47505.1, CCDS47506.1, CCDS47507.1, CCDS47508.1, CCDS55071.1, CCDS55068.1, CCDS55069.1, CCDS55070.1	6q24-q25	2012-08-08			ENSG00000112038	ENSG00000112038		"""GPCR / Class A : Opioid receptors"""	8156	protein-coding gene	gene with protein product		600018					Standard	NM_001145285		Approved	MOR1	uc003qpo.1	P35372	OTTHUMG00000015870	ENST00000330432.7:c.314C>A	6.37:g.154410984C>A	ENSP00000328264:p.Thr105Asn					OPRM1_uc011efb.1_Missense_Mutation_p.T153N|OPRM1_uc011efc.1_Missense_Mutation_p.T24N|OPRM1_uc011efd.1_Missense_Mutation_p.T5N|OPRM1_uc011efe.1_Missense_Mutation_p.T198N|OPRM1_uc003qpn.2_Missense_Mutation_p.T105N|OPRM1_uc003qpo.1_Missense_Mutation_p.T105N|OPRM1_uc011eff.1_Missense_Mutation_p.T105N|OPRM1_uc011efg.1_Missense_Mutation_p.T105N|OPRM1_uc011efh.1_Missense_Mutation_p.T105N|OPRM1_uc003qpq.1_Missense_Mutation_p.T105N|OPRM1_uc003qpt.1_Missense_Mutation_p.T105N|OPRM1_uc011efi.1_Missense_Mutation_p.T105N|OPRM1_uc003qpp.2_RNA|OPRM1_uc003qps.2_RNA|OPRM1_uc010kjg.2_Missense_Mutation_p.T5N|OPRM1_uc003qpu.2_Missense_Mutation_p.T5N	p.T105N	NM_000914	NP_000905	P35372	OPRM_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	2	551	+		Ovarian(120;0.196)	105			Cytoplasmic (Potential).		B0FXJ1|B2R9S7|B8Q1L7|B8Q1L8|B8Q1L9|E7EWZ3|G8XRH6|G8XRH8|Q12930|Q4VWM1|Q4VWM2|Q4VWM3|Q4VWM4|Q4VWM6|Q4VWX6|Q5TDA1|Q6UPP1|Q6UQ80|Q7Z2D8|Q86V80|Q8IWW3|Q8IWW4|Q9UCZ4|Q9UN57	Missense_Mutation	SNP	ENST00000330432.7	37	c.314C>A	CCDS55070.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.455291	0.84209	.	.	ENSG00000112038	ENST00000520282;ENST00000434900;ENST00000520708;ENST00000518759;ENST00000330432;ENST00000360422;ENST00000428397;ENST00000452687;ENST00000229768;ENST00000419506;ENST00000524163;ENST00000414028;ENST00000435918;ENST00000337049;ENST00000522555;ENST00000522236	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.41065	1.01;2.11;1.01;1.01;2.11;2.11;2.11;2.11;2.11;2.11;2.11;2.11;2.11;2.11;1.01;1.01	5.55	5.55	0.83447	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.61813	0.2377	M	0.76574	2.34	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D	0.97110	0.999;0.997;0.997;0.999;0.997;0.999;0.997;1.0;0.997;0.999;0.997;0.997;0.997	T	0.65348	-0.6190	10	0.87932	D	0	.	19.4964	0.95075	0.0:1.0:0.0:0.0	.	105;105;105;105;198;24;105;5;105;105;105;105;105	P35372-4;P35372-8;P35372-11;P35372-9;P35372-10;B8Q1L9;P35372-6;Q6UPP1;P35372-5;P35372;P35372-7;P35372-3;P35372-2	.;.;.;.;.;.;.;.;.;OPRM_HUMAN;.;.;.	N	153;198;5;24;105;105;105;105;105;105;105;105;105;105;5;5	ENSP00000430247:T153N;ENSP00000394624:T198N;ENSP00000430876:T5N;ENSP00000430260:T24N;ENSP00000328264:T105N;ENSP00000353598:T105N;ENSP00000411903:T105N;ENSP00000410497:T105N;ENSP00000229768:T105N;ENSP00000403549:T105N;ENSP00000430097:T105N;ENSP00000399359:T105N;ENSP00000413752:T105N;ENSP00000338381:T105N;ENSP00000429719:T5N;ENSP00000429373:T5N	ENSP00000229768:T105N	T	+	2	0	OPRM1	154452677	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.610000	0.88304	0.655000	0.94253	ACC		0.413	OPRM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042786.2	NM_000914		27	43	1	0	2.79863e-10	0.004656	3.91809e-10	27	43				
ARID1B	57492	broad.mit.edu	37	6	157222534	157222534	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr6:157222534G>T	ENST00000350026.5	+	3	1763	c.1762G>T	c.(1762-1764)Ggt>Tgt	p.G588C	ARID1B_ENST00000346085.5_Missense_Mutation_p.G601C|ARID1B_ENST00000367148.1_Missense_Mutation_p.G588C|ARID1B_ENST00000275248.4_Missense_Mutation_p.G530C	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	588	Gln-rich.				chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)	p.G530C(1)|p.G601C(1)		NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		TGGACAGCAAGGTGTGAGTGG	0.498																																							uc003qqn.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|breast(1)	2						c.(1588-1590)GGT>TGT		AT rich interactive domain 1B (SWI1-like)							53.0	52.0	52.0					6																	157222534		2203	4300	6503	SO:0001583	missense	57492				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr6:157222534G>T	AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"""-"""	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.1762G>T	6.37:g.157222534G>T	ENSP00000055163:p.Gly588Cys					ARID1B_uc003qqo.2_Missense_Mutation_p.G543C|ARID1B_uc003qqp.2_Missense_Mutation_p.G530C	p.G530C	NM_017519	NP_059989	Q8NFD5	ARI1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)	3	1740	+		Breast(66;0.000162)|Ovarian(120;0.0265)	588			Gln-rich.		Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Missense_Mutation	SNP	ENST00000350026.5	37	c.1588G>T	CCDS5251.2	.	.	.	.	.	.	.	.	.	.	G	20.9	4.070007	0.76301	.	.	ENSG00000049618	ENST00000346085;ENST00000350026;ENST00000367148;ENST00000275248;ENST00000354354;ENST00000414678;ENST00000319584	T;T;T;T;T;T	0.18960	4.52;4.37;4.34;4.35;4.17;2.18	5.76	4.9	0.64082	.	0.146056	0.43579	D	0.000545	T	0.20210	0.0486	L	0.46157	1.445	0.32457	N	0.544621	P;D;D	0.54772	0.945;0.968;0.968	P;P;P	0.53062	0.525;0.717;0.717	T	0.02603	-1.1135	10	0.72032	D	0.01	.	15.4227	0.75025	0.0667:0.0:0.9333:0.0	.	588;601;530	Q8NFD5;Q8NFD5-2;G3XAA0	ARI1B_HUMAN;.;.	C	601;588;588;530;9;87;10	ENSP00000344546:G601C;ENSP00000055163:G588C;ENSP00000356116:G588C;ENSP00000275248:G530C;ENSP00000412835:G87C;ENSP00000313006:G10C	ENSP00000275248:G530C	G	+	1	0	ARID1B	157264226	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.035000	0.70940	1.582000	0.49881	-0.122000	0.15005	GGT		0.498	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372723.1	NM_020732		3	32	1	0	2.56e-06	0.009096	3.08893e-06	3	32				
FAM120B	84498	broad.mit.edu	37	6	170627610	170627610	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr6:170627610C>A	ENST00000476287.1	+	2	1240	c.1132C>A	c.(1132-1134)Ccc>Acc	p.P378T	FAM120B_ENST00000537664.1_Missense_Mutation_p.P401T|FAM120B_ENST00000540480.1_Missense_Mutation_p.P390T|FAM120B_ENST00000252510.9_Intron	NM_032448.1	NP_115824.1	Q96EK7	F120B_HUMAN	family with sequence similarity 120B	378					cell differentiation (GO:0030154)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.P378T(1)		endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2)	44		Breast(66;0.000338)|Esophageal squamous(34;0.241)		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)		GCAAGAAGTTCCCATGTGTTC	0.527																																							uc003qxp.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1132-1134)CCC>ACC		family with sequence similarity 120B							165.0	172.0	170.0					6																	170627610		2203	4300	6503	SO:0001583	missense	84498				cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr6:170627610C>A	AB058741	CCDS5314.1, CCDS75555.1	6q27	2011-04-13	2006-07-04	2006-07-04	ENSG00000112584	ENSG00000112584			21109	protein-coding gene	gene with protein product	"""PPARgamma constitutive coactivator 1"", ""constitutive coactivator of PPAR-gamma"""	612266	"""KIAA1838"""	KIAA1838		14585507	Standard	NM_032448		Approved	PGCC1, CCPG	uc003qxp.3	Q96EK7	OTTHUMG00000016080	ENST00000476287.1:c.1132C>A	6.37:g.170627610C>A	ENSP00000417970:p.Pro378Thr					FAM120B_uc003qxo.1_Missense_Mutation_p.P378T|FAM120B_uc011ehd.1_Intron	p.P378T	NM_032448	NP_115824	Q96EK7	F120B_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)	2	1240	+		Breast(66;0.000338)|Esophageal squamous(34;0.241)	378					B4DL34|Q86V68|Q96JI9	Missense_Mutation	SNP	ENST00000476287.1	37	c.1132C>A	CCDS5314.1	.	.	.	.	.	.	.	.	.	.	C	14.26	2.481646	0.44147	.	.	ENSG00000112584	ENST00000540480;ENST00000537664;ENST00000476287	T;T;T	0.10005	2.92;2.95;2.96	3.26	0.244	0.15507	.	1.273700	0.06850	U	0.797241	T	0.11067	0.0270	L	0.58101	1.795	0.09310	N	0.999993	D;P	0.76494	0.999;0.607	D;B	0.65323	0.934;0.187	T	0.19031	-1.0318	10	0.37606	T	0.19	-4.6123	6.8947	0.24249	0.0:0.6231:0.0:0.3769	.	378;378	Q96EK7;F2Z2E1	F120B_HUMAN;.	T	390;401;378	ENSP00000444125:P390T;ENSP00000440125:P401T;ENSP00000417970:P378T	ENSP00000436640:P378T	P	+	1	0	FAM120B	170469535	0.000000	0.05858	0.001000	0.08648	0.693000	0.40251	-0.621000	0.05559	0.021000	0.15133	-0.355000	0.07637	CCC		0.527	FAM120B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000043259.2	NM_032448		69	129	1	0	1.26778e-28	0.00361	2.33876e-28	69	129				
SUN1	23353	broad.mit.edu	37	7	883154	883154	+	Nonsense_Mutation	SNP	A	A	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr7:883154A>T	ENST00000405266.1	+	5	679	c.655A>T	c.(655-657)Aaa>Taa	p.K219*	SUN1_ENST00000403868.1_Nonsense_Mutation_p.K219*|SUN1_ENST00000401592.1_Nonsense_Mutation_p.K219*|SUN1_ENST00000389574.3_Nonsense_Mutation_p.K169*|SUN1_ENST00000425407.2_Nonsense_Mutation_p.K169*|SUN1_ENST00000452783.2_Intron|SUN1_ENST00000456758.2_Nonsense_Mutation_p.K277*|SUN1_ENST00000457378.2_Nonsense_Mutation_p.K240*			O94901	SUN1_HUMAN	Sad1 and UNC84 domain containing 1	219	SYNE2-binding.				cytoskeletal anchoring at nuclear membrane (GO:0090286)|nuclear envelope organization (GO:0006998)|nuclear matrix anchoring at nuclear membrane (GO:0090292)	acrosomal membrane (GO:0002080)|integral component of nuclear inner membrane (GO:0005639)|nuclear envelope (GO:0005635)|SUN-KASH complex (GO:0034993)		p.K219*(1)|p.K240*(1)|p.K169*(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CAGGAATCAAAAATGTAAGTC	0.488																																							uc011jvp.1		NA																	3	Substitution - Nonsense(3)		lung(3)		0						c.(655-657)AAA>TAA		unc-84 homolog A isoform a							80.0	92.0	88.0					7																	883154		1849	4087	5936	SO:0001587	stop_gained	23353				cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane	integral to membrane|nuclear inner membrane|SUN-KASH complex	protein binding	g.chr7:883154A>T	AF202724	CCDS43533.1, CCDS47525.1, CCDS55078.1, CCDS55079.1, CCDS55080.1	7p22.3	2010-01-27	2010-01-27	2010-01-27	ENSG00000164828	ENSG00000164828			18587	protein-coding gene	gene with protein product	"""Sad1 unc-84 domain protein 1"""	607723	"""unc-84 homolog A (C. elegans)"""	UNC84A		11593002	Standard	NM_001130965		Approved	KIAA0810, FLJ12407	uc021zym.1	O94901	OTTHUMG00000151426	ENST00000405266.1:c.655A>T	7.37:g.883154A>T	ENSP00000384116:p.Lys219*					SUN1_uc010ksa.1_Nonsense_Mutation_p.K240*|SUN1_uc003sje.1_Nonsense_Mutation_p.K219*|SUN1_uc003sjf.2_Nonsense_Mutation_p.K169*|SUN1_uc011jvq.1_Intron|SUN1_uc003sjg.2_Nonsense_Mutation_p.K30*	p.K219*	NM_001130965	NP_001124437	O94901	SUN1_HUMAN			6	734	+			219			SYNE2-binding.|Nuclear.		A5PL20|B3KMV7|B4DZF7|B7WNY4|B7WP53|E9PDU4|E9PF23|F8WD13|Q96CZ7|Q9HA14|Q9UH98	Nonsense_Mutation	SNP	ENST00000405266.1	37	c.655A>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.52|17.52	3.409393|3.409393	0.62399|0.62399	.|.	.|.	ENSG00000164828|ENSG00000164828	ENST00000419312|ENST00000456758;ENST00000389574;ENST00000457378;ENST00000405266;ENST00000401592;ENST00000403868;ENST00000297445;ENST00000425407;ENST00000429178	.|.	.|.	.|.	4.4|4.4	4.4|4.4	0.53042|0.53042	.|.	1.699550|1.699550	0.03182|0.03182	N|N	0.172243|0.172243	T|.	0.22781|.	0.0550|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.12091|.	-1.0561|.	4|.	.|0.02654	.|T	.|1	-7.1164|-7.1164	12.18|12.18	0.54206|0.54206	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|.	.|.	.|.	N|X	59|277;169;240;219;219;219;219;169;50	.|.	.|ENSP00000297445:K219X	K|K	+|+	3|1	2|0	SUN1|SUN1	849680|849680	0.818000|0.818000	0.29161|0.29161	0.239000|0.239000	0.24122|0.24122	0.051000|0.051000	0.14879|0.14879	4.034000|4.034000	0.57289|0.57289	1.757000|1.757000	0.51966|0.51966	0.482000|0.482000	0.46254|0.46254	AAA|AAA		0.488	SUN1-001	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000322566.1	NM_025154		19	321	0	0	0	0.003954	0	19	321				
BRAT1	221927	broad.mit.edu	37	7	2593983	2593983	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr7:2593983C>A	ENST00000340611.4	-	2	339	c.83G>T	c.(82-84)tGt>tTt	p.C28F		NM_152743.3	NP_689956.2	Q6PJG6	BRAT1_HUMAN	BRCA1-associated ATM activator 1	28					response to ionizing radiation (GO:0010212)	membrane (GO:0016020)|nucleus (GO:0005634)		p.C28F(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23						CTTCTCCAAACAGGTGTCATC	0.592																																							uc003smi.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(82-84)TGT>TTT		hypothetical protein LOC221927 precursor							95.0	94.0	94.0					7																	2593983		2203	4300	6503	SO:0001583	missense	221927				response to ionizing radiation	nucleus	protein binding	g.chr7:2593983C>A	BC015632	CCDS5334.1	7p22.3	2011-03-22	2011-02-28	2011-03-22	ENSG00000106009	ENSG00000106009			21701	protein-coding gene	gene with protein product	"""BRCA1-associated protein required for ATM activation protein 1"""	614506	"""chromosome 7 open reading frame 27"""	C7orf27, BAAT1		16452482	Standard	NM_152743		Approved	MGC22916	uc003smi.3	Q6PJG6	OTTHUMG00000119091	ENST00000340611.4:c.83G>T	7.37:g.2593983C>A	ENSP00000339637:p.Cys28Phe					C7orf27_uc003smj.1_Missense_Mutation_p.C28F	p.C28F	NM_152743	NP_689956	Q6PJG6	BRAT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;2.91e-14)	2	125	-		Ovarian(82;0.0779)	28					A4D200|C9JY24|Q8IW85|Q8IZ43|Q8WVR8|Q96IV9|Q9H7J8|Q9UFA3	Missense_Mutation	SNP	ENST00000340611.4	37	c.83G>T	CCDS5334.1	.	.	.	.	.	.	.	.	.	.	C	17.72	3.459122	0.63401	.	.	ENSG00000106009	ENST00000340611	D	0.83755	-1.76	4.75	4.75	0.60458	Armadillo-type fold (1);	0.102085	0.64402	D	0.000002	D	0.89894	0.6847	M	0.73962	2.25	0.47153	D	0.999339	D;D	0.89917	1.0;0.998	D;D	0.85130	0.997;0.991	D	0.90820	0.4708	10	0.87932	D	0	-9.6346	12.6358	0.56683	0.0:0.8334:0.1666:0.0	.	28;28	Q6PJG6-2;Q6PJG6	.;BRAT1_HUMAN	F	28	ENSP00000339637:C28F	ENSP00000339637:C28F	C	-	2	0	BRAT1	2560509	0.987000	0.35691	0.992000	0.48379	0.990000	0.78478	1.751000	0.38339	2.336000	0.79503	0.563000	0.77884	TGT		0.592	BRAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239305.2	NM_152743		26	87	1	0	3.65163e-15	0.00632	5.90501e-15	26	87				
MMD2	221938	broad.mit.edu	37	7	4947150	4947150	+	Silent	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr7:4947150C>A	ENST00000404774.3	-	7	884	c.690G>T	c.(688-690)ggG>ggT	p.G230G	MMD2_ENST00000406755.1_3'UTR|MMD2_ENST00000401401.3_Silent_p.G206G	NM_001100600.1	NP_001094070.1	Q8IY49	PAQRA_HUMAN	monocyte to macrophage differentiation-associated 2	230						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)		p.G206G(1)|p.G230G(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(11)	14		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.097)|OV - Ovarian serous cystadenocarcinoma(56;3.4e-14)		AGGGGATCCTCCCGTCACTCT	0.582																																							uc003sno.3		NA																	2	Substitution - coding silent(2)		lung(2)	central_nervous_system(1)	1						c.(688-690)GGG>GGT		monocyte to macrophage							89.0	94.0	93.0					7																	4947150		2050	4191	6241	SO:0001819	synonymous_variant	221938					integral to membrane	receptor activity	g.chr7:4947150C>A	BC037881	CCDS47529.1, CCDS47530.1, CCDS59047.1	7p22	2004-06-23			ENSG00000136297	ENSG00000136297			30133	protein-coding gene	gene with protein product		614581				12477932	Standard	NM_198403		Approved	PAQR10	uc003sno.4	Q8IY49	OTTHUMG00000151844	ENST00000404774.3:c.690G>T	7.37:g.4947150C>A						MMD2_uc003snl.1_RNA|MMD2_uc003snn.3_Silent_p.G206G|MMD2_uc010ksq.2_3'UTR	p.G230G	NM_001100600	NP_001094070	Q8IY49	PAQRA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.097)|OV - Ovarian serous cystadenocarcinoma(56;3.4e-14)	7	886	-		Ovarian(82;0.0175)	230			Cytoplasmic (Potential).		B5MBW4|Q6NVU5|Q6TCH0	Silent	SNP	ENST00000404774.3	37	c.690G>T	CCDS47529.1																																																																																				0.582	MMD2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324136.1	NM_198403		44	43	1	0	9.39024e-22	0.009718	1.65462e-21	44	43				
THSD7A	221981	broad.mit.edu	37	7	11871417	11871417	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr7:11871417C>A	ENST00000423059.4	-	1	407	c.156G>T	c.(154-156)gaG>gaT	p.E52D		NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	52					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.E52D(1)		NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		GCGCCTCCGCCTCGCCCTGCG	0.697										HNSCC(18;0.044)																													uc003ssf.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(154-156)GAG>GAT		thrombospondin, type I, domain containing 7A							14.0	16.0	16.0					7																	11871417		1808	3965	5773	SO:0001583	missense	221981					integral to membrane		g.chr7:11871417C>A		CCDS47543.1	7p21.3	2006-10-16			ENSG00000005108	ENSG00000005108			22207	protein-coding gene	gene with protein product		612249					Standard	NM_015204		Approved	KIAA0960	uc021zzn.1	Q9UPZ6	OTTHUMG00000152346	ENST00000423059.4:c.156G>T	7.37:g.11871417C>A	ENSP00000406482:p.Glu52Asp	HNSCC(18;0.044)					p.E52D	NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.163)	1	408	-			52			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000423059.4	37	c.156G>T	CCDS47543.1	.	.	.	.	.	.	.	.	.	.	C	8.624	0.892119	0.17613	.	.	ENSG00000005108	ENST00000262042;ENST00000423059	T	0.59224	0.28	4.79	-0.501	0.12008	.	6.517900	0.05643	N	0.583751	T	0.38188	0.1031	L	0.27053	0.805	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.14254	-1.0479	10	0.12430	T	0.62	.	4.3626	0.11210	0.0:0.2049:0.37:0.4251	.	52	Q9UPZ6	THS7A_HUMAN	D	52	ENSP00000406482:E52D	ENSP00000262042:E52D	E	-	3	2	THSD7A	11837942	1.000000	0.71417	0.242000	0.24170	0.298000	0.27526	1.275000	0.33144	0.015000	0.14971	-0.514000	0.04452	GAG		0.697	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325944.4	XM_928187.2		8	9	1	0	0.00307968	0.00308	0.00329919	8	9				
STEAP1B	256227	broad.mit.edu	37	7	22534440	22534440	+	Missense_Mutation	SNP	T	T	C			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr7:22534440T>C	ENST00000406890.2	-	2	129	c.35A>G	c.(34-36)gAa>gGa	p.E12G	STEAP1B_ENST00000404369.4_Missense_Mutation_p.E12G	NM_207342.2	NP_997225.1	Q6NZ63	STEAL_HUMAN	STEAP family member 1B	12						integral component of membrane (GO:0016021)		p.E12G(2)		endometrium(1)|kidney(1)|lung(2)	4						TTTCCAAATTTCTTCTTGGTT	0.249																																							uc003svh.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(34-36)GAA>GGA		SubName: Full=cDNA FLJ60218, highly similar to Six transmembrane epithelial antigen ofprostate 1;							152.0	121.0	130.0					7																	22534440		692	1589	2281	SO:0001583	missense	256227					integral to membrane	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity	g.chr7:22534440T>C		CCDS55094.1, CCDS56469.1	7p15.3	2011-05-19			ENSG00000105889	ENSG00000105889			41907	protein-coding gene	gene with protein product							Standard	NM_207342		Approved		uc010kum.2	Q6NZ63	OTTHUMG00000152529	ENST00000406890.2:c.35A>G	7.37:g.22534440T>C	ENSP00000385239:p.Glu12Gly					MGC87042_uc010kum.1_Missense_Mutation_p.E12G	p.E12G			Q6NZ63	STEAL_HUMAN			2	132	-			12					B5MCI2	Missense_Mutation	SNP	ENST00000406890.2	37	c.35A>G	CCDS55094.1	.	.	.	.	.	.	.	.	.	.	t	11.29	1.596447	0.28445	.	.	ENSG00000105889	ENST00000406890;ENST00000404369;ENST00000424363;ENST00000439708	T;T;T;T	0.15834	2.39;2.68;2.76;2.54	1.26	1.26	0.21427	.	.	.	.	.	T	0.18635	0.0447	M	0.76838	2.35	0.21220	N	0.999755	P;P	0.50443	0.935;0.518	B;B	0.40101	0.319;0.115	T	0.22208	-1.0223	9	0.87932	D	0	-18.0975	4.7034	0.12837	0.0:0.0:0.0:1.0	.	12;12	B5MCI2;Q6NZ63	.;STEAL_HUMAN	G	12	ENSP00000385239:E12G;ENSP00000384370:E12G;ENSP00000416608:E12G;ENSP00000408954:E12G	ENSP00000384370:E12G	E	-	2	0	STEAP1B	22500965	1.000000	0.71417	0.996000	0.52242	0.133000	0.20885	1.261000	0.32980	0.591000	0.29711	0.102000	0.15555	GAA		0.249	STEAP1B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326617.2			22	30	0	0	0	0.003954	0	22	30				
FAM126A	84668	broad.mit.edu	37	7	22999980	22999980	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr7:22999980C>T	ENST00000432176.2	-	10	1118	c.886G>A	c.(886-888)Gaa>Aaa	p.E296K	FAM126A_ENST00000409923.1_Missense_Mutation_p.E296K|FAM126A_ENST00000498833.1_5'UTR	NM_032581.3	NP_115970.2	Q9BYI3	HYCCI_HUMAN	family with sequence similarity 126, member A	296					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)	p.E296K(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|urinary_tract(2)	23						CTTGTACCTTCCTTATTAGAT	0.383																																							uc003svm.3		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(886-888)GAA>AAA		family with sequence similarity 126, member A							187.0	166.0	173.0					7																	22999980		2203	4300	6503	SO:0001583	missense	84668					cytoplasm|membrane	signal transducer activity	g.chr7:22999980C>T	BC018710	CCDS5377.1	7p15.3	2008-10-02			ENSG00000122591	ENSG00000122591			24587	protein-coding gene	gene with protein product	"""down regulated by Ctnnb1, a"""	610531				10910037, 16951682	Standard	NM_032581		Approved	DRCTNNB1A, HCC, HYCC1, hyccin	uc003svm.4	Q9BYI3	OTTHUMG00000128435	ENST00000432176.2:c.886G>A	7.37:g.22999980C>T	ENSP00000403396:p.Glu296Lys					FAM126A_uc003svn.3_Missense_Mutation_p.E152K	p.E296K	NM_032581	NP_115970	Q9BYI3	HYCCI_HUMAN			10	1141	-			296					A4D145|Q6N010|Q75MR4|Q7LDZ4|Q96MX1|Q96NQ6	Missense_Mutation	SNP	ENST00000432176.2	37	c.886G>A	CCDS5377.1	.	.	.	.	.	.	.	.	.	.	c	28.1	4.887661	0.91814	.	.	ENSG00000122591	ENST00000432176;ENST00000409923	T;T	0.79352	-1.26;-1.26	5.36	5.36	0.76844	.	0.043568	0.85682	D	0.000000	T	0.80979	0.4728	M	0.61703	1.905	0.80722	D	1	P	0.46859	0.885	P	0.48770	0.589	T	0.82776	-0.0290	10	0.62326	D	0.03	-1.6442	15.7936	0.78388	0.0:0.8638:0.1362:0.0	.	296	Q9BYI3	HYCCI_HUMAN	K	296	ENSP00000403396:E296K;ENSP00000386246:E296K	ENSP00000386246:E296K	E	-	1	0	FAM126A	22966505	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.418000	0.66429	2.681000	0.91329	0.645000	0.84053	GAA		0.383	FAM126A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250230.1	NM_032581		41	130	0	0	0	0.007835	0	41	130				
FAM221A	340277	broad.mit.edu	37	7	23729051	23729051	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr7:23729051G>A	ENST00000344962.4	+	3	492	c.403G>A	c.(403-405)Gct>Act	p.A135T	FAM221A_ENST00000409192.3_Missense_Mutation_p.A135T|FAM221A_ENST00000409994.3_Missense_Mutation_p.A77T|FAM221A_ENST00000409653.1_Missense_Mutation_p.A77T	NM_199136.3	NP_954587.2	A4D161	F221A_HUMAN	family with sequence similarity 221, member A	135								p.A135T(1)									TCAGCACAGTGCTGCGCCTGG	0.428																																							uc003swo.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(403-405)GCT>ACT		hypothetical protein LOC340277 isoform 1							71.0	63.0	66.0					7																	23729051		2203	4300	6503	SO:0001583	missense	340277							g.chr7:23729051G>A		CCDS5385.1, CCDS47561.1, CCDS47562.1, CCDS75570.1	7p15.3	2012-04-02	2012-04-02	2012-04-02	ENSG00000188732	ENSG00000188732			27977	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 46"""	C7orf46		12477932	Standard	XR_242080		Approved	FLJ45875, MGC72075, DKFZp686F0810	uc003swo.4	A4D161	OTTHUMG00000128463	ENST00000344962.4:c.403G>A	7.37:g.23729051G>A	ENSP00000342576:p.Ala135Thr					C7orf46_uc003swq.3_Missense_Mutation_p.A135T|C7orf46_uc003swr.3_Missense_Mutation_p.A77T|C7orf46_uc003swp.3_RNA|C7orf46_uc010kup.2_RNA	p.A135T	NM_199136	NP_954587	A4D161	CG046_HUMAN			3	492	+			135					Q05CG4|Q4G0Q7|Q6P519	Missense_Mutation	SNP	ENST00000344962.4	37	c.403G>A	CCDS5385.1	.	.	.	.	.	.	.	.	.	.	G	12.61	1.989778	0.35131	.	.	ENSG00000188732	ENST00000409192;ENST00000344962;ENST00000409653;ENST00000409994	T;T;T;T	0.17528	2.27;2.27;2.27;2.27	5.29	1.24	0.21308	.	0.268520	0.42172	D	0.000747	T	0.19208	0.0461	M	0.76574	2.34	0.23492	N	0.997565	B;B;B	0.33266	0.161;0.21;0.404	B;B;B	0.32533	0.116;0.147;0.147	T	0.16541	-1.0399	10	0.21540	T	0.41	-3.312	12.5685	0.56323	0.0:0.4842:0.3909:0.1249	.	77;135;135	A4D161-3;A4D161-2;A4D161	.;.;CG046_HUMAN	T	135;135;77;77	ENSP00000386927:A135T;ENSP00000342576:A135T;ENSP00000386900:A77T;ENSP00000386631:A77T	ENSP00000342576:A135T	A	+	1	0	C7orf46	23695576	0.989000	0.36119	0.006000	0.13384	0.746000	0.42486	1.965000	0.40471	0.008000	0.14787	-0.282000	0.10007	GCT		0.428	FAM221A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250261.1	NM_199136		4	54	0	0	0	0.009096	0	4	54				
INMT	11185	broad.mit.edu	37	7	30795407	30795407	+	Silent	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr7:30795407C>A	ENST00000013222.5	+	3	748	c.732C>A	c.(730-732)gtC>gtA	p.V244V	INMT_ENST00000409539.1_Silent_p.V243V|INMT_ENST00000484180.1_3'UTR|INMT-FAM188B_ENST00000458257.1_Intron	NM_001199219.1|NM_006774.4	NP_001186148.1|NP_006765.4	O95050	INMT_HUMAN	indolethylamine N-methyltransferase	244					amine metabolic process (GO:0009308)|methylation (GO:0032259)|response to toxic substance (GO:0009636)	cytosol (GO:0005829)	amine N-methyltransferase activity (GO:0030748)|thioether S-methyltransferase activity (GO:0004790)	p.V244V(1)		kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|stomach(1)	23						GCTACTCTGTCACCAATGCTG	0.592																																							uc003tbs.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(730-732)GTC>GTA		indolethylamine N-methyltransferase							108.0	103.0	105.0					7																	30795407		2203	4300	6503	SO:0001819	synonymous_variant	11185					cytoplasm	amine N-methyltransferase activity	g.chr7:30795407C>A		CCDS5430.1, CCDS56479.1	7p14.3	2011-08-30			ENSG00000241644	ENSG00000241644	2.1.1.49		6069	protein-coding gene	gene with protein product		604854				10552930	Standard	NM_001199219		Approved		uc003tbs.1	O95050	OTTHUMG00000167163	ENST00000013222.5:c.732C>A	7.37:g.30795407C>A						FAM188B_uc010kwe.2_Intron|INMT_uc010kwc.1_RNA|INMT_uc010kwd.1_Silent_p.V243V	p.V244V	NM_006774	NP_006765	O95050	INMT_HUMAN			3	748	+			244					B8ZZ69|Q3KP49|Q9P1Y2|Q9UBY4|Q9UHQ0	Silent	SNP	ENST00000013222.5	37	c.732C>A	CCDS5430.1																																																																																				0.592	INMT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214993.3	NM_006774		33	96	1	0	8.4185e-14	0.002445	1.32161e-13	33	96				
HERPUD2	64224	broad.mit.edu	37	7	35733802	35733802	+	Missense_Mutation	SNP	T	T	C			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr7:35733802T>C	ENST00000396081.1	-	1	943	c.139A>G	c.(139-141)Agc>Ggc	p.S47G	HERPUD2_ENST00000311350.3_Missense_Mutation_p.S47G|RP11-379H18.1_ENST00000605778.1_RNA	NM_022373.4	NP_071768.3	Q9BSE4	HERP2_HUMAN	HERPUD family member 2	47	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.				response to unfolded protein (GO:0006986)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)		p.S47G(1)		kidney(3)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)	18						ACTGGTTTGCTAGGGTAAACG	0.478																																							uc003tet.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(139-141)AGC>GGC		HERPUD family member 2							164.0	163.0	163.0					7																	35733802		2203	4300	6503	SO:0001583	missense	64224				response to unfolded protein	integral to membrane		g.chr7:35733802T>C	BC020264	CCDS5446.1	7p14.2	2006-03-20	2006-03-20		ENSG00000122557	ENSG00000122557			21915	protein-coding gene	gene with protein product	"""homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 2"""						Standard	NM_022373		Approved	FLJ22313	uc003tes.4	Q9BSE4	OTTHUMG00000128687	ENST00000396081.1:c.139A>G	7.37:g.35733802T>C	ENSP00000379390:p.Ser47Gly					HERPUD2_uc003tes.3_Missense_Mutation_p.S47G|uc003teu.3_5'Flank	p.S47G	NM_022373	NP_071768	Q9BSE4	HERP2_HUMAN			1	944	-			47			Ubiquitin-like.		A4D1Y8|Q9H6F9	Missense_Mutation	SNP	ENST00000396081.1	37	c.139A>G	CCDS5446.1	.	.	.	.	.	.	.	.	.	.	T	17.64	3.439386	0.63067	.	.	ENSG00000122557	ENST00000396081;ENST00000311350;ENST00000438224;ENST00000413517;ENST00000427455	T;T;T;T;T	0.43688	2.72;2.72;0.94;0.94;0.94	3.53	3.53	0.40419	Ubiquitin supergroup (1);Ubiquitin (2);	0.000000	0.85682	D	0.000000	T	0.53094	0.1775	L	0.48877	1.53	0.58432	D	0.999999	D	0.76494	0.999	D	0.85130	0.997	T	0.46219	-0.9207	10	0.26408	T	0.33	-10.7809	12.0143	0.53305	0.0:0.0:0.0:1.0	.	47	Q9BSE4	HERP2_HUMAN	G	47	ENSP00000379390:S47G;ENSP00000310729:S47G;ENSP00000415475:S47G;ENSP00000391015:S47G;ENSP00000412895:S47G	ENSP00000310729:S47G	S	-	1	0	HERPUD2	35700327	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	6.938000	0.75904	1.829000	0.53265	0.383000	0.25322	AGC		0.478	HERPUD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250584.1	NM_022373		28	136	0	0	0	0.003271	0	28	136				
PKD1L1	168507	broad.mit.edu	37	7	47852796	47852796	+	Silent	SNP	C	C	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr7:47852796C>T	ENST00000289672.2	-	49	7319	c.7269G>A	c.(7267-7269)gaG>gaA	p.E2423E	C7orf69_ENST00000418326.2_Intron|C7orf69_ENST00000258776.4_Intron	NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	2423					detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)	p.E2423E(2)	BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						CGTTTTGGTTCTCTGGGTCTA	0.562																																							uc003tny.1		NA																	2	Substitution - coding silent(2)		lung(1)|breast(1)	ovary(8)|upper_aerodigestive_tract(2)|breast(1)	11						c.(7267-7269)GAG>GAA		polycystin-1L1							131.0	133.0	132.0					7																	47852796		2203	4300	6503	SO:0001819	synonymous_variant	168507				cell-cell adhesion	integral to membrane		g.chr7:47852796C>T	AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"""polycystin-1L1"""	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.7269G>A	7.37:g.47852796C>T						C7orf69_uc003tnz.3_Intron|C7orf69_uc003toa.1_Intron|PKD1L1_uc003tob.2_Silent_p.E150E	p.E2423E	NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN			49	7269	-			2423			Extracellular (Potential).		Q6UWK1	Silent	SNP	ENST00000289672.2	37	c.7269G>A	CCDS34633.1	.	.	.	.	.	.	.	.	.	.	C	2.836	-0.241513	0.05906	.	.	ENSG00000158683	ENST00000433506	T	0.65549	-0.16	3.6	0.571	0.17352	.	3.053350	0.00969	N	0.003204	T	0.49660	0.1570	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.36237	-0.9756	7	0.42905	T	0.14	-5.7345	1.7168	0.02903	0.2169:0.4488:0.2112:0.1232	.	.	.	.	K	14	ENSP00000393466:E14K	ENSP00000393466:E14K	E	-	1	0	PKD1L1	47819321	0.003000	0.15002	0.001000	0.08648	0.018000	0.09664	0.112000	0.15479	0.277000	0.22141	0.655000	0.94253	GAA		0.562	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	NM_138295		54	65	0	0	0	0.00361	0	54	65				
ABCA13	154664	broad.mit.edu	37	7	48237881	48237881	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr7:48237881G>T	ENST00000435803.1	+	3	235	c.211G>T	c.(211-213)Gtt>Ttt	p.V71F		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	71					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.V71F(1)|p.V16F(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TATCCCCTTTGTTCAAAGCCT	0.423																																							uc003toq.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(5)|central_nervous_system(4)|skin(1)	10						c.(211-213)GTT>TTT		ATP binding cassette, sub-family A (ABC1),							94.0	87.0	89.0					7																	48237881		1856	4094	5950	SO:0001583	missense	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48237881G>T	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.211G>T	7.37:g.48237881G>T	ENSP00000411096:p.Val71Phe					ABCA13_uc003top.2_Missense_Mutation_p.V71F|ABCA13_uc010kyr.2_5'UTR	p.V71F	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN			3	236	+			71					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	c.211G>T	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	G	18.73	3.686840	0.68157	.	.	ENSG00000179869	ENST00000435803	D	0.98684	-5.07	5.44	5.44	0.79542	.	0.000000	0.42053	D	0.000779	D	0.98448	0.9483	L	0.41236	1.265	0.80722	D	1	D;D	0.89917	1.0;0.993	D;P	0.85130	0.997;0.9	D	0.99293	1.0899	10	0.62326	D	0.03	.	14.7481	0.69505	0.0:0.0:1.0:0.0	.	71;71	Q86UQ4;Q86UQ4-2	ABCAD_HUMAN;.	F	71	ENSP00000411096:V71F	ENSP00000409268:V71F	V	+	1	0	ABCA13	48208436	1.000000	0.71417	1.000000	0.80357	0.688000	0.40055	3.880000	0.56145	2.526000	0.85167	0.555000	0.69702	GTT		0.423	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		16	32	1	0	2.4624e-09	0.008871	3.3288e-09	16	32				
ABCA13	154664	broad.mit.edu	37	7	48314899	48314899	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr7:48314899G>T	ENST00000435803.1	+	17	5660	c.5636G>T	c.(5635-5637)cGa>cTa	p.R1879L		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	1879					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.R1879Q(1)|p.R1824L(1)|p.R1879L(1)|p.R1824Q(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						GAAAGCTCCCGAATGGAAATA	0.403																																							uc003toq.2		NA																	4	Substitution - Missense(4)		large_intestine(2)|lung(2)	ovary(5)|central_nervous_system(4)|skin(1)	10						c.(5635-5637)CGA>CTA		ATP binding cassette, sub-family A (ABC1),							60.0	61.0	61.0					7																	48314899		1814	4073	5887	SO:0001583	missense	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48314899G>T	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.5636G>T	7.37:g.48314899G>T	ENSP00000411096:p.Arg1879Leu					ABCA13_uc010kyr.2_Missense_Mutation_p.R1382L	p.R1879L	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN			17	5661	+			1879					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	c.5636G>T	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	G	8.604	0.887443	0.17540	.	.	ENSG00000179869	ENST00000435803	T	0.23348	1.91	6.16	-4.9	0.03094	.	1.687590	0.03791	N	0.262930	T	0.12860	0.0312	N	0.19112	0.55	0.09310	N	1	B	0.28713	0.22	B	0.22601	0.04	T	0.16778	-1.0391	9	.	.	.	.	4.8921	0.13731	0.2606:0.1049:0.5302:0.1044	.	1879	Q86UQ4	ABCAD_HUMAN	L	1879	ENSP00000411096:R1879L	.	R	+	2	0	ABCA13	48285445	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-1.385000	0.02540	-0.595000	0.05828	-0.300000	0.09419	CGA		0.403	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		41	34	1	0	4.92203e-23	0.00623	8.82511e-23	41	34				
POM121L12	285877	broad.mit.edu	37	7	53104043	53104043	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr7:53104043G>T	ENST00000408890.4	+	1	695	c.679G>T	c.(679-681)Gct>Tct	p.A227S		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	227								p.A227S(1)		endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						TGGAGCGGTTGCTTCCTTCGT	0.647																																							uc003tpz.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(679-681)GCT>TCT		POM121 membrane glycoprotein-like 12							46.0	54.0	51.0					7																	53104043		1969	4133	6102	SO:0001583	missense	285877							g.chr7:53104043G>T		CCDS43584.1	7p12.1	2012-03-13	2012-03-13		ENSG00000221900	ENSG00000221900			25369	protein-coding gene	gene with protein product			"""POM121 membrane glycoprotein-like 12"""				Standard	NM_182595		Approved	DKFZp564N2472	uc003tpz.3	Q8N7R1	OTTHUMG00000155995	ENST00000408890.4:c.679G>T	7.37:g.53104043G>T	ENSP00000386133:p.Ala227Ser						p.A227S	NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN			1	695	+			227					Q8NDI9	Missense_Mutation	SNP	ENST00000408890.4	37	c.679G>T	CCDS43584.1	.	.	.	.	.	.	.	.	.	.	G	6.018	0.371621	0.11409	.	.	ENSG00000221900	ENST00000408890	T	0.11930	2.73	2.01	-2.62	0.06152	.	.	.	.	.	T	0.05640	0.0148	N	0.05124	-0.11	0.09310	N	1	B	0.23540	0.087	B	0.23574	0.047	T	0.36065	-0.9763	9	0.56958	D	0.05	.	4.3436	0.11122	0.2858:0.3192:0.395:0.0	.	227	Q8N7R1	P1L12_HUMAN	S	227	ENSP00000386133:A227S	ENSP00000386133:A227S	A	+	1	0	POM121L12	53071537	0.000000	0.05858	0.002000	0.10522	0.459000	0.32528	-0.011000	0.12721	-0.741000	0.04797	0.561000	0.74099	GCT		0.647	POM121L12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342656.1	NM_182595		21	63	1	0	1.55795e-14	0.001882	2.48396e-14	21	63				
CALN1	83698	broad.mit.edu	37	7	71275385	71275385	+	Silent	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr7:71275385G>T	ENST00000329008.5	-	5	766	c.468C>A	c.(466-468)atC>atA	p.I156I	CALN1_ENST00000405452.2_Silent_p.I156I|CALN1_ENST00000395276.2_Silent_p.I156I|CALN1_ENST00000395275.2_Silent_p.I198I|CALN1_ENST00000412588.1_Silent_p.I198I|CALN1_ENST00000431984.1_Silent_p.I156I	NM_001017440.2	NP_001017440.1	Q9BXU9	CABP8_HUMAN	calneuron 1	156						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	calcium ion binding (GO:0005509)	p.I156I(1)|p.I198I(1)		biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)				CATTGATAATGATGTTCTCAA	0.507																																							uc003twa.3		NA																	2	Substitution - coding silent(2)		lung(2)	skin(1)	1						c.(466-468)ATC>ATA		calneuron 1 isoform 2							213.0	172.0	186.0					7																	71275385		2203	4300	6503	SO:0001819	synonymous_variant	83698					Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding	g.chr7:71275385G>T	AF282250	CCDS5541.1, CCDS47603.1	7q11	2013-01-10			ENSG00000183166	ENSG00000183166		"""EF-hand domain containing"""	13248	protein-coding gene	gene with protein product	"""calcium-binding protein CABP8"""	607176				11286509	Standard	NM_031468		Approved		uc003twb.4	Q9BXU9	OTTHUMG00000023787	ENST00000329008.5:c.468C>A	7.37:g.71275385G>T						CALN1_uc003twb.3_Silent_p.I198I|CALN1_uc003twc.3_Silent_p.I156I	p.I156I	NM_001017440	NP_001017440	Q9BXU9	CABP8_HUMAN			5	995	-		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)	156			Cytoplasmic (Potential).		J3KQA7	Silent	SNP	ENST00000329008.5	37	c.468C>A	CCDS5541.1																																																																																				0.507	CALN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320044.2	NM_031468		34	64	1	0	9.78485e-24	0.002836	1.77307e-23	34	64				
PCLO	27445	broad.mit.edu	37	7	82544891	82544891	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr7:82544891C>A	ENST00000333891.9	-	7	12748	c.12411G>T	c.(12409-12411)gaG>gaT	p.E4137D	PCLO_ENST00000423517.2_Missense_Mutation_p.E4137D|PCLO_ENST00000437081.1_Missense_Mutation_p.E857D	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein									p.E4137D(2)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GATCTAAGCTCTCTGTCCCTC	0.413																																							uc003uhx.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(7)	7						c.(12409-12411)GAG>GAT		piccolo isoform 1							118.0	111.0	113.0					7																	82544891		1886	4115	6001	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82544891C>A	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.12411G>T	7.37:g.82544891C>A	ENSP00000334319:p.Glu4137Asp					PCLO_uc003uhv.2_Missense_Mutation_p.E4137D|PCLO_uc010lec.2_Missense_Mutation_p.E1102D	p.E4137D	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			7	12700	-			4068						Missense_Mutation	SNP	ENST00000333891.9	37	c.12411G>T	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	C	6.663	0.490846	0.12702	.	.	ENSG00000186472	ENST00000333891;ENST00000423517;ENST00000437081	T;T	0.18810	2.19;2.19	5.57	3.44	0.39384	.	.	.	.	.	T	0.14743	0.0356	L	0.38175	1.15	0.42692	D	0.993584	B;P;P	0.40619	0.051;0.724;0.724	B;B;B	0.36845	0.034;0.183;0.234	T	0.04413	-1.0953	9	0.87932	D	0	.	6.4134	0.21704	0.0:0.6306:0.0:0.3694	.	4068;4137;4137	Q9Y6V0;Q9Y6V0-5;Q9Y6V0-6	PCLO_HUMAN;.;.	D	4137;4137;857	ENSP00000334319:E4137D;ENSP00000388393:E4137D	ENSP00000334319:E4137D	E	-	3	2	PCLO	82382827	0.997000	0.39634	1.000000	0.80357	0.992000	0.81027	0.693000	0.25497	1.356000	0.45884	-0.259000	0.10710	GAG		0.413	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		13	81	1	0	9.31168e-06	0.001855	1.10145e-05	13	81				
COL1A2	1278	broad.mit.edu	37	7	94024365	94024365	+	Silent	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr7:94024365C>A	ENST00000297268.6	+	1	493	c.22C>A	c.(22-24)Cgg>Agg	p.R8R		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	8					blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis (GO:0042476)|platelet activation (GO:0030168)|protein heterotrimerization (GO:0070208)|regulation of blood pressure (GO:0008217)|Rho protein signal transduction (GO:0007266)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|transforming growth factor beta receptor signaling pathway (GO:0007179)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|protein binding, bridging (GO:0030674)	p.R8R(1)	COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	TGTGGATACGCGGACTTTGTT	0.552										HNSCC(75;0.22)	OREG0018169	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc003ung.1		NA																COL1A2/PLAG1(3)	1	Substitution - coding silent(1)		lung(1)	soft_tissue(3)|central_nervous_system(3)|ovary(2)|skin(1)	9						c.(22-24)CGG>AGG		alpha 2 type I collagen precursor	Collagenase(DB00048)						196.0	166.0	176.0					7																	94024365		2203	4300	6503	SO:0001819	synonymous_variant	1278				axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging	g.chr7:94024365C>A	Z74616	CCDS34682.1	7q21.3	2014-09-17	2002-02-13		ENSG00000164692	ENSG00000164692		"""Collagens"""	2198	protein-coding gene	gene with protein product	"""alpha 2(I)-collagen"", ""alpha-2 collagen type I"", ""type I procollagen"", ""collagen I, alpha-2 polypeptide"", ""collagen of skin, tendon and bone, alpha-2 chain"""	120160	"""osteogenesis imperfecta type IV"""	OI4		3857213, 2897363	Standard	NM_000089		Approved		uc003ung.1	P08123	OTTHUMG00000148675	ENST00000297268.6:c.22C>A	7.37:g.94024365C>A		HNSCC(75;0.22)	OREG0018169	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1302	COL1A2_uc011kib.1_Silent_p.R8R	p.R8R	NM_000089	NP_000080	P08123	CO1A2_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		1	493	+	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		8					P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	Silent	SNP	ENST00000297268.6	37	c.22C>A	CCDS34682.1																																																																																				0.552	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309045.2	NM_000089		34	72	1	0	6.29468e-14	0.004878	9.92773e-14	34	72				
TRRAP	8295	broad.mit.edu	37	7	98508005	98508005	+	Silent	SNP	A	A	C			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr7:98508005A>C	ENST00000359863.4	+	15	1886	c.1677A>C	c.(1675-1677)acA>acC	p.T559T	TRRAP_ENST00000446306.3_Silent_p.T559T|TRRAP_ENST00000355540.3_Silent_p.T559T	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	559					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)	p.T559T(2)		NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GTGTCAAGACAATCACGTGGG	0.418																																							uc003upp.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37						c.(1675-1677)ACA>ACC		transformation/transcription domain-associated							154.0	152.0	152.0					7																	98508005		2203	4300	6503	SO:0001819	synonymous_variant	8295				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	g.chr7:98508005A>C	AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.1677A>C	7.37:g.98508005A>C						TRRAP_uc011kis.1_Silent_p.T559T|TRRAP_uc003upr.2_Silent_p.T251T	p.T559T	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		15	1886	+	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		559					A4D265|O75218|Q9Y631|Q9Y6H4	Silent	SNP	ENST00000359863.4	37	c.1677A>C	CCDS59066.1	.	.	.	.	.	.	.	.	.	.	A	9.793	1.178448	0.21787	.	.	ENSG00000196367	ENST00000456197	.	.	.	5.91	-10.1	0.00402	.	.	.	.	.	T	0.56659	0.2000	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.66575	-0.5889	4	.	.	.	.	13.5666	0.61822	0.1356:0.6851:0.1075:0.0718	.	.	.	.	P	274	.	.	Q	+	2	0	TRRAP	98345941	0.001000	0.12720	0.900000	0.35374	0.994000	0.84299	-1.927000	0.01561	-1.369000	0.02147	0.528000	0.53228	CAA		0.418	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		7	333	0	0	0	0.004482	0	7	333				
GATS	352954	broad.mit.edu	37	7	99821629	99821629	+	Missense_Mutation	SNP	C	C	A	rs376368839		TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr7:99821629C>A	ENST00000436886.2	-	3	535	c.287G>T	c.(286-288)gGt>gTt	p.G96V	GATS_ENST00000543273.1_RNA	NM_178831.6	NP_849153.3	Q8NAP1	GATS_HUMAN	GATS, stromal antigen 3 opposite strand	96								p.G96V(1)		endometrium(2)|large_intestine(2)|lung(4)	8	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GAAGCTGCCACCGCCGGACAC	0.617																																							uc003uua.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(286-288)GGT>GTT		GATS, stromal antigen 3 opposite strand							90.0	99.0	96.0					7																	99821629		2123	4229	6352	SO:0001583	missense	352954							g.chr7:99821629C>A	AK095056	CCDS43621.1	7q22.1	2014-08-13	2009-04-08	2009-04-08	ENSG00000160844	ENSG00000239521			29954	protein-coding gene	gene with protein product	"""stromal antigen 3 opposite strand"""					12477932	Standard	NM_178831		Approved	DKFZp686B07267, STAG3OS	uc003uua.4	Q8NAP1	OTTHUMG00000155289	ENST00000436886.2:c.287G>T	7.37:g.99821629C>A	ENSP00000389760:p.Gly96Val					GATS_uc003uty.3_RNA|GATS_uc003utz.3_RNA|GATS_uc010lgt.2_RNA|GATS_uc011kjl.1_5'Flank|GATS_uc010lgu.2_RNA	p.G96V	NM_178831	NP_849153	Q8NAP1	GATS_HUMAN			3	536	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		96					D6W5V0|Q68D93|Q6P198|Q6PII7|Q7Z720|Q86UK9	Missense_Mutation	SNP	ENST00000436886.2	37	c.287G>T	CCDS43621.1	.	.	.	.	.	.	.	.	.	.	c	13.52	2.262942	0.39995	.	.	ENSG00000160844	ENST00000436886	.	.	.	1.74	1.74	0.24563	.	0.162220	0.56097	D	0.000039	T	0.65004	0.2650	L	0.49640	1.575	0.53688	D	0.999971	D	0.76494	0.999	D	0.83275	0.996	T	0.60616	-0.7228	9	0.30854	T	0.27	.	9.5269	0.39169	0.0:1.0:0.0:0.0	.	96	Q8NAP1	GATS_HUMAN	V	96	.	ENSP00000389760:G96V	G	-	2	0	GATS	99659565	0.998000	0.40836	0.811000	0.32455	0.175000	0.22909	6.564000	0.73969	0.906000	0.36621	0.173000	0.16961	GGT		0.617	GATS-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_178831		151	46	1	0	1.73214e-63	0.00361	3.3338e-63	151	46				
MUC17	140453	broad.mit.edu	37	7	100684607	100684607	+	Missense_Mutation	SNP	A	A	C			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr7:100684607A>C	ENST00000306151.4	+	3	9974	c.9910A>C	c.(9910-9912)Act>Cct	p.T3304P		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3304	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)	p.T3304P(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CCTTTCAACAACTCCTGCTGA	0.493																																							uc003uxp.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(14)|skin(8)|breast(3)|lung(2)	27						c.(9910-9912)ACT>CCT		mucin 17 precursor							298.0	306.0	303.0					7																	100684607		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100684607A>C	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.9910A>C	7.37:g.100684607A>C	ENSP00000302716:p.Thr3304Pro					MUC17_uc010lho.1_RNA	p.T3304P	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			3	9963	+	Lung NSC(181;0.136)|all_lung(186;0.182)		3304			Extracellular (Potential).|Ser-rich.|53.|59 X approximate tandem repeats.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.9910A>C	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	a	6.213	0.407467	0.11754	.	.	ENSG00000169876	ENST00000306151	T	0.02552	4.25	1.01	-0.471	0.12119	.	.	.	.	.	T	0.04679	0.0127	N	0.19112	0.55	0.09310	N	1	D	0.58970	0.984	D	0.70487	0.969	T	0.42999	-0.9418	9	0.41790	T	0.15	.	3.2277	0.06737	0.716:0.0:0.284:0.0	.	3304	Q685J3	MUC17_HUMAN	P	3304	ENSP00000302716:T3304P	ENSP00000302716:T3304P	T	+	1	0	MUC17	100471327	0.000000	0.05858	0.001000	0.08648	0.031000	0.12232	-0.757000	0.04772	-0.096000	0.12329	0.113000	0.15668	ACT		0.493	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		10	496	0	0	0	0.003163	0	10	496				
LHFPL3	375612	broad.mit.edu	37	7	104377165	104377165	+	Nonsense_Mutation	SNP	G	G	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr7:104377165G>A	ENST00000401970.2	+	2	569	c.447G>A	c.(445-447)tgG>tgA	p.W149*	LHFPL3_ENST00000424859.1_Nonsense_Mutation_p.W149*|LHFPL3-AS1_ENST00000449764.1_RNA|LHFPL3_ENST00000543266.1_Nonsense_Mutation_p.W163*|LHFPL3_ENST00000535008.1_Nonsense_Mutation_p.W163*|LHFPL3-AS1_ENST00000433514.1_RNA			Q86UP9	LHPL3_HUMAN	lipoma HMGIC fusion partner-like 3	163						integral component of membrane (GO:0016021)		p.W163*(1)		kidney(1)|large_intestine(2)|lung(6)	9						CTGATGGCTGGGACTCAGATG	0.423																																							uc003vce.2		NA																	1	Substitution - Nonsense(1)		lung(1)		0						c.(487-489)TGG>TGA		lipoma HMGIC fusion partner-like 3							66.0	63.0	64.0					7																	104377165		1916	4142	6058	SO:0001587	stop_gained	375612					integral to membrane		g.chr7:104377165G>A	AY260763		7q22.2	2006-06-13			ENSG00000187416	ENSG00000187416			6589	protein-coding gene	gene with protein product		609719	"""lipoma HMGIC fusion partner-like 4"""	LHFPL4		10329012	Standard	NM_199000		Approved		uc003vce.3	Q86UP9	OTTHUMG00000157273	ENST00000401970.2:c.447G>A	7.37:g.104377165G>A	ENSP00000385374:p.Trp149*					LHFPL3_uc003vcf.2_Nonsense_Mutation_p.W163*	p.W163*	NM_199000	NP_945351	Q86UP9	LHPL3_HUMAN			2	613	+			149					A1L383|A4D0Q5	Nonsense_Mutation	SNP	ENST00000401970.2	37	c.489G>A		.	.	.	.	.	.	.	.	.	.	G	37	6.136517	0.97315	.	.	ENSG00000187416	ENST00000424859;ENST00000535008;ENST00000401970;ENST00000543266	.	.	.	5.12	5.12	0.69794	.	0.057212	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.116	0.93340	0.0:0.0:1.0:0.0	.	.	.	.	X	149;163;149;163	.	ENSP00000385374:W149X	W	+	3	0	LHFPL3	104164401	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	9.601000	0.98297	2.821000	0.97095	0.650000	0.86243	TGG		0.423	LHFPL3-002	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000348284.1	NM_199000		18	19	0	0	0	0.007413	0	18	19				
CDHR3	222256	broad.mit.edu	37	7	105662892	105662892	+	Missense_Mutation	SNP	A	A	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr7:105662892A>T	ENST00000317716.9	+	14	2154	c.2074A>T	c.(2074-2076)Agg>Tgg	p.R692W	CDHR3_ENST00000542731.1_Missense_Mutation_p.R692W|CDHR3_ENST00000470188.1_Intron|CDHR3_ENST00000343407.5_Intron|CDHR3_ENST00000478080.1_Missense_Mutation_p.R604W	NM_152750.4	NP_689963.2	Q6ZTQ4	CDHR3_HUMAN	cadherin-related family member 3	692	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R692W(2)		breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)	23						CACGACCCCCAGGGTAAGGGC	0.522																																							uc003vdl.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(2074-2076)AGG>TGG		hypothetical protein LOC222256 precursor							186.0	175.0	179.0					7																	105662892		1955	4158	6113	SO:0001583	missense	222256				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr7:105662892A>T	AK126338	CCDS47684.1, CCDS75651.1	7q22.2	2011-07-01			ENSG00000128536	ENSG00000128536		"""Cadherins / Cadherin-related"""	26308	protein-coding gene	gene with protein product		615610					Standard	NM_152750		Approved	FLJ44366, FLJ23834, CDH28	uc003vdl.4	Q6ZTQ4	OTTHUMG00000157520	ENST00000317716.9:c.2074A>T	7.37:g.105662892A>T	ENSP00000325954:p.Arg692Trp					CDHR3_uc003vdk.2_Intron|CDHR3_uc003vdm.3_Missense_Mutation_p.R679W|CDHR3_uc011klt.1_Missense_Mutation_p.R604W|CDHR3_uc003vdn.2_Intron	p.R692W	NM_152750	NP_689963	Q6ZTQ4	CDHR3_HUMAN			14	2182	+			692			Cadherin 6.|Extracellular (Potential).		Q8TCI7	Missense_Mutation	SNP	ENST00000317716.9	37	c.2074A>T	CCDS47684.1	.	.	.	.	.	.	.	.	.	.	A	15.88	2.962880	0.53507	.	.	ENSG00000128536	ENST00000542731;ENST00000317716;ENST00000478080	T;T;T	0.58060	0.42;0.41;0.36	5.39	1.54	0.23209	Cadherin (1);	0.726850	0.13707	N	0.368418	T	0.40222	0.1108	L	0.47716	1.5	0.24253	N	0.99531	B;B	0.10296	0.003;0.003	B;B	0.08055	0.003;0.003	T	0.38045	-0.9679	10	0.66056	D	0.02	-7.4313	3.2303	0.06746	0.6408:0.1435:0.078:0.1377	.	679;692	B3KYA0;Q6ZTQ4	.;CDHR3_HUMAN	W	692;692;604	ENSP00000439766:R692W;ENSP00000325954:R692W;ENSP00000417771:R604W	ENSP00000325954:R692W	R	+	1	2	CDHR3	105450128	0.022000	0.18835	0.648000	0.29521	0.974000	0.67602	0.960000	0.29253	0.075000	0.16796	0.533000	0.62120	AGG		0.522	CDHR3-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349025.2	NM_152750		310	108	0	0	0	0.00361	0	310	108				
CTTNBP2	83992	broad.mit.edu	37	7	117431569	117431569	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr7:117431569G>T	ENST00000160373.3	-	4	1772	c.1681C>A	c.(1681-1683)Ccc>Acc	p.P561T	CTTNBP2_ENST00000487820.1_5'Flank	NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	561	Pro-rich.				brain development (GO:0007420)	cell projection (GO:0042995)|synaptic vesicle (GO:0008021)		p.P561T(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		TTGAGTTGGGGGTGTGGTGGA	0.502																																							uc003vjf.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(1)	5						c.(1681-1683)CCC>ACC		cortactin binding protein 2							116.0	123.0	121.0					7																	117431569		2203	4300	6503	SO:0001583	missense	83992							g.chr7:117431569G>T		CCDS5774.1	7q31	2013-01-10	2004-06-08	2004-06-09	ENSG00000077063	ENSG00000077063		"""Ankyrin repeat domain containing"""	15679	protein-coding gene	gene with protein product		609772	"""cortactin binding protein 2"""	CORTBP2, C7orf8		11707066	Standard	XM_005250635		Approved	KIAA1758, Orf4	uc003vjf.3	Q8WZ74	OTTHUMG00000022880	ENST00000160373.3:c.1681C>A	7.37:g.117431569G>T	ENSP00000160373:p.Pro561Thr						p.P561T	NM_033427	NP_219499	Q8WZ74	CTTB2_HUMAN		LUSC - Lung squamous cell carcinoma(290;0.133)	4	1773	-	Lung NSC(10;0.0018)|all_lung(10;0.002)		561			Pro-rich.		O43389|Q7LG11|Q9C0A5	Missense_Mutation	SNP	ENST00000160373.3	37	c.1681C>A	CCDS5774.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.8|20.8	4.049749|4.049749	0.75846|0.75846	.|.	.|.	ENSG00000077063|ENSG00000077063	ENST00000446636|ENST00000160373	.|T	.|0.80653	.|-1.4	5.74|5.74	5.74|5.74	0.90152|0.90152	.|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	D|D	0.90992|0.90992	0.7167|0.7167	M|M	0.83118|0.83118	2.625|2.625	0.58432|0.58432	D|D	0.999999|0.999999	.|D	.|0.89917	.|1.0	.|D	.|0.91635	.|0.999	D|D	0.90763|0.90763	0.4666|0.4666	6|10	.|0.59425	.|D	.|0.04	-3.5413|-3.5413	20.2982|20.2982	0.98569|0.98569	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|561	.|Q8WZ74	.|CTTB2_HUMAN	H|T	89|561	.|ENSP00000160373:P561T	.|ENSP00000160373:P561T	P|P	-|-	2|1	0|0	CTTNBP2|CTTNBP2	117218805|117218805	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	9.055000|9.055000	0.93873|0.93873	2.873000|2.873000	0.98535|0.98535	0.563000|0.563000	0.77884|0.77884	CCC|CCC		0.502	CTTNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059201.4	NM_033427		158	411	1	0	2.01345e-68	0.00361	3.88988e-68	158	411				
KCND2	3751	broad.mit.edu	37	7	119915119	119915119	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr7:119915119G>T	ENST00000331113.4	+	1	1398	c.433G>T	c.(433-435)Gcc>Tcc	p.A145S		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	145					action potential (GO:0001508)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)	p.A145S(1)		NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)				Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	GCGAGAGAACGCCGAGCGCCT	0.602																																							uc003vjj.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(2)|skin(1)	5						c.(433-435)GCC>TCC		potassium voltage-gated channel, Shal-related							82.0	86.0	85.0					7																	119915119		2203	4300	6503	SO:0001583	missense	3751				regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding	g.chr7:119915119G>T	AJ010969	CCDS5776.1	7q31	2012-07-05			ENSG00000184408	ENSG00000184408		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6238	protein-coding gene	gene with protein product		605410				10551270, 16382104	Standard	NM_012281		Approved	Kv4.2, RK5, KIAA1044	uc003vjj.1	Q9NZV8	OTTHUMG00000156989	ENST00000331113.4:c.433G>T	7.37:g.119915119G>T	ENSP00000333496:p.Ala145Ser						p.A145S	NM_012281	NP_036413	Q9NZV8	KCND2_HUMAN			1	1398	+	all_neural(327;0.117)		145			Cytoplasmic (Potential).		O95012|O95021|Q2TBD3|Q9UBY7|Q9UN98|Q9UNH9	Missense_Mutation	SNP	ENST00000331113.4	37	c.433G>T	CCDS5776.1	.	.	.	.	.	.	.	.	.	.	G	8.493	0.862500	0.17178	.	.	ENSG00000184408	ENST00000331113	T	0.44482	0.92	5.71	5.71	0.89125	BTB/POZ fold (2);	0.130763	0.49916	D	0.000139	T	0.44912	0.1316	L	0.61387	1.9	0.46823	D	0.999217	B	0.06786	0.001	B	0.12837	0.008	T	0.28776	-1.0033	9	.	.	.	.	19.8677	0.96824	0.0:0.0:1.0:0.0	.	145	Q9NZV8	KCND2_HUMAN	S	145	ENSP00000333496:A145S	.	A	+	1	0	KCND2	119702355	1.000000	0.71417	0.998000	0.56505	0.553000	0.35397	4.700000	0.61803	2.709000	0.92574	0.655000	0.94253	GCC		0.602	KCND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346996.1	NM_012281		364	95	1	0	2.86298e-183	0.00361	5.55212e-183	364	95				
CPED1	79974	broad.mit.edu	37	7	120704314	120704314	+	Missense_Mutation	SNP	A	A	C			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr7:120704314A>C	ENST00000310396.5	+	5	1030	c.563A>C	c.(562-564)cAg>cCg	p.Q188P	CPED1_ENST00000423795.1_5'UTR|CPED1_ENST00000450913.2_Missense_Mutation_p.Q188P	NM_024913.4	NP_079189.4	A4D0V7	CPED1_HUMAN	cadherin-like and PC-esterase domain containing 1	188						endoplasmic reticulum (GO:0005783)		p.Q188P(1)									CCAGAAATACAGCAGCCACTT	0.388																																							uc003vjq.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|large_intestine(2)|skin(2)|pancreas(1)	9						c.(562-564)CAG>CCG		hypothetical protein LOC79974 isoform 1							96.0	98.0	97.0					7																	120704314		2203	4300	6503	SO:0001583	missense	79974					endoplasmic reticulum		g.chr7:120704314A>C		CCDS34739.1, CCDS47690.1	7q31.31	2012-06-12	2012-06-12	2012-06-12	ENSG00000106034	ENSG00000106034			26159	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 58"""	C7orf58		20056006	Standard	NM_024913		Approved	FLJ21986	uc003vjq.4	A4D0V7	OTTHUMG00000156982	ENST00000310396.5:c.563A>C	7.37:g.120704314A>C	ENSP00000309772:p.Gln188Pro					C7orf58_uc003vjr.1_Missense_Mutation_p.Q188P|C7orf58_uc003vjs.3_Missense_Mutation_p.Q188P|C7orf58_uc003vjt.3_5'UTR	p.Q188P	NM_024913	NP_079189	A4D0V7	CG058_HUMAN			5	1010	+	all_neural(327;0.117)		188					A8K1R3|Q6UXT1|Q86T76|Q86T84|Q8N2T5|Q96NC9	Missense_Mutation	SNP	ENST00000310396.5	37	c.563A>C	CCDS34739.1	.	.	.	.	.	.	.	.	.	.	A	17.97	3.518380	0.64634	.	.	ENSG00000106034	ENST00000310396;ENST00000428526;ENST00000450913	T;T;T	0.48201	0.82;0.82;0.82	5.68	4.5	0.54988	.	0.440664	0.25227	N	0.032193	T	0.55577	0.1929	M	0.68952	2.095	0.80722	D	1	D;D	0.61080	0.969;0.989	P;P	0.53809	0.735;0.637	T	0.56866	-0.7908	10	0.59425	D	0.04	-16.5497	8.8608	0.35256	0.8333:0.0:0.0:0.1667	.	188;188	A4D0V7-2;A4D0V7	.;CG058_HUMAN	P	188	ENSP00000309772:Q188P;ENSP00000398082:Q188P;ENSP00000406122:Q188P	ENSP00000309772:Q188P	Q	+	2	0	C7orf58	120491550	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	3.604000	0.54081	0.941000	0.37499	0.460000	0.39030	CAG		0.388	CPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346959.1	NM_024913		7	43	0	0	0	0.001984	0	7	43				
AASS	10157	broad.mit.edu	37	7	121755132	121755132	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr7:121755132G>T	ENST00000393376.1	-	8	1134	c.1039C>A	c.(1039-1041)Cac>Aac	p.H347N	AASS_ENST00000417368.2_Missense_Mutation_p.H347N|AASS_ENST00000473553.1_Intron			Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase	347	Lysine-ketoglutarate reductase.				cellular nitrogen compound metabolic process (GO:0034641)|L-lysine catabolic process to acetyl-CoA via saccharopine (GO:0033512)|lysine catabolic process (GO:0006554)|protein tetramerization (GO:0051262)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity (GO:0047131)|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity (GO:0047130)	p.H347N(1)		autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54						CCTTACTTGTGTGGTAATGCA	0.478																																							uc003vka.2		NA																	1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(1039-1041)CAC>AAC		aminoadipate-semialdehyde synthase precursor	L-Glutamic Acid(DB00142)|NADH(DB00157)						126.0	115.0	119.0					7																	121755132		2203	4300	6503	SO:0001583	missense	10157				protein tetramerization	mitochondrial matrix	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity	g.chr7:121755132G>T	AF229180	CCDS5783.1	7q31.3	2010-12-14			ENSG00000008311	ENSG00000008311			17366	protein-coding gene	gene with protein product		605113				10775527	Standard	NM_005763		Approved	LORSDH, LKRSDH	uc003vkb.3	Q9UDR5	OTTHUMG00000157058	ENST00000393376.1:c.1039C>A	7.37:g.121755132G>T	ENSP00000377040:p.His347Asn					AASS_uc011knu.1_RNA|AASS_uc011knv.1_RNA|AASS_uc003vkb.2_Missense_Mutation_p.H347N|AASS_uc011knw.1_Intron	p.H347N	NM_005763	NP_005754	Q9UDR5	AASS_HUMAN			8	1135	-			347			Lysine-ketoglutarate reductase.		O95462	Missense_Mutation	SNP	ENST00000393376.1	37	c.1039C>A	CCDS5783.1	.	.	.	.	.	.	.	.	.	.	G	15.28	2.787700	0.49997	.	.	ENSG00000008311	ENST00000393376;ENST00000417368	.	.	.	5.68	4.78	0.61160	Alanine dehydrogenase/PNT, C-terminal (1);	0.043669	0.85682	N	0.000000	T	0.66607	0.2806	M	0.83483	2.645	0.80722	D	1	P	0.41978	0.767	B	0.39027	0.288	T	0.72064	-0.4403	9	0.51188	T	0.08	.	15.8785	0.79185	0.0:0.0:0.8635:0.1365	.	347	Q9UDR5	AASS_HUMAN	N	347	.	ENSP00000351834:H347N	H	-	1	0	AASS	121542368	1.000000	0.71417	0.992000	0.48379	0.057000	0.15508	6.423000	0.73361	1.350000	0.45770	0.650000	0.86243	CAC		0.478	AASS-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347300.1	NM_005763		16	50	1	0	3.41278e-10	0.00499	4.76484e-10	16	50				
PAX4	5078	broad.mit.edu	37	7	127253908	127253908	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr7:127253908G>A	ENST00000341640.2	-	4	645	c.440C>T	c.(439-441)cCc>cTc	p.P147L	PAX4_ENST00000378740.2_Missense_Mutation_p.P147L|PAX4_ENST00000338516.3_Missense_Mutation_p.P155L|PAX4_ENST00000463946.1_Missense_Mutation_p.P145L	NM_006193.2	NP_006184.2	O43316	PAX4_HUMAN	paired box 4	155					cell differentiation (GO:0030154)|circadian rhythm (GO:0007623)|endocrine pancreas development (GO:0031018)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|positive regulation of cell differentiation (GO:0045597)|response to cAMP (GO:0051591)|response to drug (GO:0042493)|retina development in camera-type eye (GO:0060041)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)	p.P147L(1)		cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						GCCACTATGGGGAGTGAGGAC	0.562																																					Ovarian(113;737 1605 7858 27720 34092)	Ovarian(113;737 1605 7858 27720 34092)	uc010lld.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(439-441)CCC>CTC		paired box 4							75.0	66.0	69.0					7																	127253908		2203	4300	6503	SO:0001583	missense	5078				cell differentiation|endocrine pancreas development|organ morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:127253908G>A		CCDS5797.1	7q32.1	2011-06-20	2007-07-12		ENSG00000106331	ENSG00000106331		"""Paired boxes"", ""Homeoboxes / PRD class"""	8618	protein-coding gene	gene with protein product		167413	"""paired box gene 4"""				Standard	NM_006193		Approved	MODY9	uc010lld.1	O43316	OTTHUMG00000157562	ENST00000341640.2:c.440C>T	7.37:g.127253908G>A	ENSP00000339906:p.Pro147Leu					PAX4_uc003vmf.2_Missense_Mutation_p.P145L|PAX4_uc003vmg.1_Missense_Mutation_p.P147L|PAX4_uc003vmh.2_Missense_Mutation_p.P145L	p.P147L	NM_006193	NP_006184	O43316	PAX4_HUMAN			4	646	-			155					O95161|Q6B0H0	Missense_Mutation	SNP	ENST00000341640.2	37	c.440C>T	CCDS5797.1	.	.	.	.	.	.	.	.	.	.	G	9.689	1.151289	0.21371	.	.	ENSG00000106331	ENST00000341640;ENST00000338516;ENST00000378740;ENST00000463946	D;D;D	0.94417	-3.42;-3.39;-3.3	5.32	0.179	0.15063	Homeodomain-related (1);	0.573381	0.16647	N	0.205372	D	0.86138	0.5861	N	0.24115	0.695	0.09310	N	1	B;B;B;B	0.17465	0.0;0.022;0.002;0.001	B;B;B;B	0.14578	0.005;0.011;0.002;0.007	T	0.73094	-0.4091	10	0.28530	T	0.3	.	4.6506	0.12592	0.3654:0.1516:0.4829:0.0	.	147;145;155;145	O43316-4;Q1W386;O43316;G3V4Q1	.;.;PAX4_HUMAN;.	L	147;155;155;145	ENSP00000339906:P147L;ENSP00000344297:P155L;ENSP00000451923:P145L	ENSP00000344297:P155L	P	-	2	0	PAX4	127041144	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	0.077000	0.14738	-0.172000	0.10779	-0.172000	0.13284	CCC		0.562	PAX4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349165.1			7	63	0	0	0	0.001984	0	7	63				
METTL2B	55798	broad.mit.edu	37	7	128116825	128116825	+	Silent	SNP	C	C	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr7:128116825C>T	ENST00000262432.8	+	1	43	c.6C>T	c.(4-6)gcC>gcT	p.A2A	METTL2B_ENST00000480046.1_5'UTR|RP11-212P7.3_ENST00000462662.1_RNA	NM_018396.2	NP_060866.2	Q6P1Q9	MET2B_HUMAN	methyltransferase like 2B	2					tRNA methylation (GO:0030488)		tRNA (cytosine) methyltransferase activity (GO:0016427)	p.A2A(1)		breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						GTGTCATGGCCGGCTCCTACC	0.602											OREG0018295	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc003vnf.2		NA																	1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(4-6)GCC>GCT		methyltransferase like 2B							41.0	43.0	42.0					7																	128116825		2203	4300	6503	SO:0001819	synonymous_variant	55798						methyltransferase activity	g.chr7:128116825C>T	AK002212	CCDS5803.2	7q32.2	2012-06-12	2006-02-09	2006-02-09	ENSG00000165055	ENSG00000165055			18272	protein-coding gene	gene with protein product		607846	"""methyltransferase like 2"""	METTL2		11738826	Standard	NM_018396		Approved	METL, FLJ11350	uc003vnf.3	Q6P1Q9	OTTHUMG00000143738	ENST00000262432.8:c.6C>T	7.37:g.128116825C>T			OREG0018295	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1562	METTL2B_uc003vng.2_5'UTR|METTL2B_uc011kop.1_5'Flank	p.A2A	NM_018396	NP_060866	Q6P1Q9	MTL2B_HUMAN			1	43	+			2					B4DZ68|Q0IJ54|Q3B7J1	Silent	SNP	ENST00000262432.8	37	c.6C>T	CCDS5803.2																																																																																				0.602	METTL2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289817.1	NM_018396		23	10	0	0	0	0.00278	0	23	10				
CPA1	1357	broad.mit.edu	37	7	130025175	130025175	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr7:130025175C>A	ENST00000011292.3	+	8	1126	c.976C>A	c.(976-978)Cag>Aag	p.Q326K	CPA1_ENST00000484324.1_Missense_Mutation_p.Q238K	NM_001868.2	NP_001859.1	P15085	CBPA1_HUMAN	carboxypeptidase A1 (pancreatic)	326					proteolysis (GO:0006508)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.Q326K(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(18;0.0435)					AGTCCCTGACCAGGATGAGCT	0.572																																							uc003vpx.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(976-978)CAG>AAG		carboxypeptidase A1 precursor							149.0	132.0	138.0					7																	130025175		2203	4300	6503	SO:0001583	missense	1357				proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	g.chr7:130025175C>A		CCDS5820.1	7q32	2012-02-10			ENSG00000091704	ENSG00000091704	3.4.17.1		2296	protein-coding gene	gene with protein product	"""pancreatic carboxypeptidase A"""	114850		CPA			Standard	NM_001868		Approved		uc003vpx.3	P15085	OTTHUMG00000157826	ENST00000011292.3:c.976C>A	7.37:g.130025175C>A	ENSP00000011292:p.Gln326Lys					CPA1_uc003vpw.2_Missense_Mutation_p.Q160K	p.Q326K	NM_001868	NP_001859	P15085	CBPA1_HUMAN			8	1048	+	Melanoma(18;0.0435)		326					A4D1M1|Q53XU0|Q9BS67|Q9UCF2	Missense_Mutation	SNP	ENST00000011292.3	37	c.976C>A	CCDS5820.1	.	.	.	.	.	.	.	.	.	.	C	11.02	1.515803	0.27123	.	.	ENSG00000091704	ENST00000011292;ENST00000476062;ENST00000484324	T;T;T	0.10005	2.92;2.92;2.92	5.68	-4.8	0.03190	Peptidase M14, carboxypeptidase A (2);	0.850724	0.11076	N	0.602369	T	0.05868	0.0153	L	0.34521	1.04	0.09310	N	0.999998	B;B	0.02656	0.0;0.0	B;B	0.08055	0.003;0.001	T	0.36962	-0.9726	10	0.30078	T	0.28	.	3.2071	0.06670	0.3035:0.2847:0.2957:0.116	.	326;238	P15085;C9JUF9	CBPA1_HUMAN;.	K	326;238;238	ENSP00000011292:Q326K;ENSP00000419408:Q238K;ENSP00000419497:Q238K	ENSP00000011292:Q326K	Q	+	1	0	CPA1	129812411	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-0.169000	0.09911	-0.895000	0.03920	-0.165000	0.13383	CAG		0.572	CPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349736.2	NM_001868		54	36	1	0	8.52529e-16	0.00361	1.39406e-15	54	36				
PLXNA4	91584	broad.mit.edu	37	7	131830040	131830040	+	Missense_Mutation	SNP	A	A	C			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr7:131830040A>C	ENST00000359827.3	-	29	6025	c.5063T>G	c.(5062-5064)cTg>cGg	p.L1688R	PLXNA4_ENST00000321063.4_Missense_Mutation_p.L1688R			Q9HCM2	PLXA4_HUMAN	plexin A4	1688					anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)	p.L1688R(2)		NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						AAACTTCTGCAGTGTGCCCTG	0.547																																							uc003vra.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(5062-5064)CTG>CGG		plexin A4 isoform 1							83.0	81.0	81.0					7																	131830040		2203	4300	6503	SO:0001583	missense	91584					integral to membrane|intracellular|plasma membrane		g.chr7:131830040A>C	AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"""Plexins"""	9102	protein-coding gene	gene with protein product		604280	"""plexin A4, A"", ""plexin A4, B"""	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.5063T>G	7.37:g.131830040A>C	ENSP00000352882:p.Leu1688Arg					PLXNA4_uc003vqz.3_5'UTR	p.L1688R	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN			29	5292	-			1688			Cytoplasmic (Potential).		A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Missense_Mutation	SNP	ENST00000359827.3	37	c.5063T>G	CCDS43646.1	.	.	.	.	.	.	.	.	.	.	A	24.7	4.558169	0.86231	.	.	ENSG00000221866	ENST00000321063;ENST00000359827	T;T	0.50277	0.75;0.75	5.05	5.05	0.67936	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.000000	0.64402	D	0.000002	T	0.74366	0.3707	M	0.91561	3.22	0.80722	D	1	D	0.76494	0.999	D	0.76071	0.987	T	0.81342	-0.0976	10	0.87932	D	0	.	14.4658	0.67482	1.0:0.0:0.0:0.0	.	1688	Q9HCM2	PLXA4_HUMAN	R	1688	ENSP00000323194:L1688R;ENSP00000352882:L1688R	ENSP00000323194:L1688R	L	-	2	0	PLXNA4	131480580	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.287000	0.95975	1.902000	0.55061	0.459000	0.35465	CTG		0.547	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775		7	33	0	0	0	0.00308	0	7	33				
PLXNA4	91584	broad.mit.edu	37	7	131913111	131913111	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr7:131913111G>T	ENST00000359827.3	-	6	2684	c.1722C>A	c.(1720-1722)aaC>aaA	p.N574K	PLXNA4_ENST00000321063.4_Missense_Mutation_p.N574K			Q9HCM2	PLXA4_HUMAN	plexin A4	574					anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)	p.N574N(2)|p.N574K(2)		NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						TTACCAGCACGTTGTACTGAG	0.592																																							uc003vra.3		NA																	4	Substitution - Missense(2)|Substitution - coding silent(2)		lung(2)|endometrium(2)	ovary(1)	1						c.(1720-1722)AAC>AAA		plexin A4 isoform 1							68.0	70.0	69.0					7																	131913111		1967	4151	6118	SO:0001583	missense	91584					integral to membrane|intracellular|plasma membrane		g.chr7:131913111G>T	AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"""Plexins"""	9102	protein-coding gene	gene with protein product		604280	"""plexin A4, A"", ""plexin A4, B"""	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.1722C>A	7.37:g.131913111G>T	ENSP00000352882:p.Asn574Lys						p.N574K	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN			6	1951	-			574			Extracellular (Potential).		A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Missense_Mutation	SNP	ENST00000359827.3	37	c.1722C>A	CCDS43646.1	.	.	.	.	.	.	.	.	.	.	G	9.436	1.086773	0.20390	.	.	ENSG00000221866	ENST00000321063;ENST00000359827	T;T	0.00840	5.63;5.63	5.91	-1.2	0.09554	.	0.044737	0.85682	D	0.000000	T	0.00580	0.0019	N	0.08118	0	0.45930	D	0.998768	B	0.06786	0.001	B	0.06405	0.002	T	0.53606	-0.8415	10	0.07175	T	0.84	.	13.8514	0.63499	0.3646:0.0:0.6354:0.0	.	574	Q9HCM2	PLXA4_HUMAN	K	574	ENSP00000323194:N574K;ENSP00000352882:N574K	ENSP00000323194:N574K	N	-	3	2	PLXNA4	131563651	0.011000	0.17503	0.995000	0.50966	0.993000	0.82548	-0.815000	0.04481	-0.171000	0.10797	0.655000	0.94253	AAC		0.592	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775		11	40	1	0	0.000978159	0.000978	0.00106576	11	40				
NUP205	23165	broad.mit.edu	37	7	135310997	135310997	+	Missense_Mutation	SNP	A	A	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr7:135310997A>T	ENST00000285968.6	+	33	4707	c.4681A>T	c.(4681-4683)Aca>Tca	p.T1561S		NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	1561					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)	p.T1561S(1)		breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						GGCATTTCTCACAAGAGTGGC	0.448																																							uc003vsw.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6						c.(4681-4683)ACA>TCA		nucleoporin 205kDa							122.0	115.0	117.0					7																	135310997		2203	4300	6503	SO:0001583	missense	23165				carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	g.chr7:135310997A>T	D86978	CCDS34759.1	7q31.32	2007-03-26	2004-01-06	2004-01-07	ENSG00000155561	ENSG00000155561			18658	protein-coding gene	gene with protein product		614352	"""chromosome 7 open reading frame 14"""	C7orf14		9039502, 9348540	Standard	NM_015135		Approved	KIAA0225	uc003vsw.3	Q92621	OTTHUMG00000155497	ENST00000285968.6:c.4681A>T	7.37:g.135310997A>T	ENSP00000285968:p.Thr1561Ser					NUP205_uc003vsx.2_RNA	p.T1561S	NM_015135	NP_055950	Q92621	NU205_HUMAN			33	4712	+			1561					A6H8X3|Q86YC1	Missense_Mutation	SNP	ENST00000285968.6	37	c.4681A>T	CCDS34759.1	.	.	.	.	.	.	.	.	.	.	A	22.1	4.243579	0.79912	.	.	ENSG00000155561	ENST00000285968	T	0.34667	1.35	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.51719	0.1691	L	0.43923	1.385	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.43261	-0.9402	10	0.30854	T	0.27	-13.9497	15.6556	0.77133	1.0:0.0:0.0:0.0	.	1561	Q92621	NU205_HUMAN	S	1561	ENSP00000285968:T1561S	ENSP00000285968:T1561S	T	+	1	0	NUP205	134961537	1.000000	0.71417	0.998000	0.56505	0.930000	0.56654	8.695000	0.91298	2.103000	0.63969	0.482000	0.46254	ACA		0.448	NUP205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340358.1			5	111	0	0	0	0.001168	0	5	111				
CHRM2	1129	broad.mit.edu	37	7	136700192	136700192	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr7:136700192G>T	ENST00000445907.2	+	3	1108	c.580G>T	c.(580-582)Gcc>Tcc	p.A194S	hsa-mir-490_ENST00000598184.1_RNA|hsa-mir-490_ENST00000597642.1_RNA|hsa-mir-490_ENST00000425981.2_RNA|CHRM2_ENST00000402486.3_Missense_Mutation_p.A194S|hsa-mir-490_ENST00000586239.1_RNA|CHRM2_ENST00000397608.3_Missense_Mutation_p.A194S|hsa-mir-490_ENST00000593789.1_RNA|CHRM2_ENST00000401861.1_Missense_Mutation_p.A194S|CHRM2_ENST00000453373.1_Missense_Mutation_p.A194S|hsa-mir-490_ENST00000439694.1_RNA|hsa-mir-490_ENST00000592183.1_RNA|CHRM2_ENST00000320658.5_Missense_Mutation_p.A194S	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	194					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|nervous system development (GO:0007399)|phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway (GO:0007207)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|regulation of heart contraction (GO:0008016)|response to virus (GO:0009615)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)	p.A194S(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Bethanechol(DB01019)|Brompheniramine(DB00835)|Carbachol(DB00411)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cocaine(DB00907)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Dicyclomine(DB00804)|Dimetindene(DB08801)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxacurium chloride(DB01135)|Doxepin(DB01142)|Ethopropazine(DB00392)|Fesoterodine(DB06702)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Rocuronium(DB00728)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	GGCTATTGCAGCCTTCTATTT	0.478																																							uc003vtf.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(1)	5						c.(580-582)GCC>TCC		cholinergic receptor, muscarinic 2	Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium(DB01334)|Doxacurium chloride(DB01135)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)						79.0	70.0	73.0					7																	136700192		2203	4300	6503	SO:0001583	missense	1129				activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding	g.chr7:136700192G>T		CCDS5843.1	7q35-q36	2014-09-17			ENSG00000181072	ENSG00000181072		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1951	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 2"""	118493					Standard	NM_000739		Approved		uc003vtl.1	P08172	OTTHUMG00000155658	ENST00000445907.2:c.580G>T	7.37:g.136700192G>T	ENSP00000399745:p.Ala194Ser					CHRM2_uc003vtg.1_Missense_Mutation_p.A194S|CHRM2_uc003vtj.1_Missense_Mutation_p.A194S|CHRM2_uc003vtk.1_Missense_Mutation_p.A194S|CHRM2_uc003vtl.1_Missense_Mutation_p.A194S|CHRM2_uc003vtm.1_Missense_Mutation_p.A194S|CHRM2_uc003vti.1_Missense_Mutation_p.A194S|CHRM2_uc003vto.1_Missense_Mutation_p.A194S|CHRM2_uc003vtn.1_Missense_Mutation_p.A194S|uc003vtp.1_Intron	p.A194S	NM_001006630	NP_001006631	P08172	ACM2_HUMAN			4	1203	+			194			Helical; Name=5; (By similarity).		Q4VBK6|Q9P1X9	Missense_Mutation	SNP	ENST00000445907.2	37	c.580G>T	CCDS5843.1	.	.	.	.	.	.	.	.	.	.	G	18.63	3.666363	0.67814	.	.	ENSG00000181072	ENST00000445907;ENST00000453373;ENST00000320658;ENST00000397608;ENST00000402486;ENST00000401861	T;T;T;T;T;T	0.72394	-0.65;-0.65;-0.65;-0.65;-0.65;-0.65	5.51	5.51	0.81932	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.74512	0.3726	L	0.37800	1.135	0.80722	D	1	D	0.65815	0.995	D	0.63283	0.913	T	0.66787	-0.5835	10	0.07325	T	0.83	-0.9518	19.4315	0.94772	0.0:0.0:1.0:0.0	.	194	P08172	ACM2_HUMAN	S	194	ENSP00000399745:A194S;ENSP00000415386:A194S;ENSP00000319984:A194S;ENSP00000380733:A194S;ENSP00000384937:A194S;ENSP00000384401:A194S	ENSP00000319984:A194S	A	+	1	0	CHRM2	136350732	1.000000	0.71417	0.998000	0.56505	0.638000	0.38207	9.807000	0.99171	2.600000	0.87896	0.655000	0.94253	GCC		0.478	CHRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341010.1			27	38	1	0	2.08973e-25	0.005443	3.80018e-25	27	38				
DGKI	9162	broad.mit.edu	37	7	137363342	137363342	+	Silent	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr7:137363342G>T	ENST00000288490.5	-	3	567	c.567C>A	c.(565-567)ctC>ctA	p.L189L	DGKI_ENST00000453654.2_De_novo_Start_OutOfFrame|DGKI_ENST00000424189.2_Silent_p.L189L|DGKI_ENST00000446122.1_Silent_p.L189L	NM_004717.2	NP_004708.1	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	189					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|positive regulation of Ras protein signal transduction (GO:0046579)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of Rap GTPase activity (GO:0032317)	cytoplasm (GO:0005737)|guanyl-nucleotide exchange factor complex (GO:0032045)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)	p.L189L(2)		breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						CAAGGTAGCAGAGGTCTCCCG	0.522																																							uc003vtt.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)|kidney(1)|skin(1)	3						c.(565-567)CTC>CTA		diacylglycerol kinase, iota							188.0	172.0	177.0					7																	137363342		2203	4300	6503	SO:0001819	synonymous_variant	9162				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chr7:137363342G>T	AF061936	CCDS5845.1	7q32.3-q33	2013-01-10			ENSG00000157680	ENSG00000157680		"""Ankyrin repeat domain containing"""	2855	protein-coding gene	gene with protein product		604072				9830018	Standard	NM_004717		Approved	DGK-IOTA	uc003vtt.3	O75912	OTTHUMG00000155697	ENST00000288490.5:c.567C>A	7.37:g.137363342G>T						DGKI_uc003vtu.2_Translation_Start_Site	p.L189L	NM_004717	NP_004708	O75912	DGKI_HUMAN			3	568	-			189			Phorbol-ester/DAG-type 1.		A4D1Q9|Q9NZ49	Silent	SNP	ENST00000288490.5	37	c.567C>A	CCDS5845.1																																																																																				0.522	DGKI-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341286.3	NM_004717		47	164	1	0	6.81593e-30	0.00361	1.26194e-29	47	164				
CREB3L2	64764	broad.mit.edu	37	7	137612987	137612987	+	Silent	SNP	G	G	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr7:137612987G>A	ENST00000330387.6	-	2	579	c.228C>T	c.(226-228)ctC>ctT	p.L76L	CREB3L2_ENST00000456390.1_Silent_p.L76L|CREB3L2_ENST00000452463.1_Silent_p.L76L|CREB3L2_ENST00000458726.1_Silent_p.L13L	NM_194071.3	NP_919047.2	Q70SY1	CR3L2_HUMAN	cAMP responsive element binding protein 3-like 2	76					cartilage development (GO:0051216)|chondrocyte differentiation (GO:0002062)|ER to Golgi vesicle-mediated transport (GO:0006888)|positive regulation of transcription, DNA-templated (GO:0045893)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	cAMP response element binding (GO:0035497)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|transcription regulatory region DNA binding (GO:0044212)	p.L76L(1)	FUS/CREB3L2(158)	breast(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						CAGCCTGGATGAGAGGCGCCG	0.572			T	FUS	fibromyxoid sarcoma																																		uc003vtw.2		NA		Dom	yes		7	7q34	64764	T	cAMP responsive element binding protein 3-like 2			M	FUS		fibromyxoid sarcoma	FUS/CREB3L2(158)	1	Substitution - coding silent(1)		lung(1)	soft_tissue(158)|upper_aerodigestive_tract(1)|ovary(1)	160						c.(226-228)CTC>CTT		cAMP responsive element binding protein 3-like							57.0	49.0	51.0					7																	137612987		2203	4300	6503	SO:0001819	synonymous_variant	64764				chondrocyte differentiation|positive regulation of transcription, DNA-dependent|response to endoplasmic reticulum stress|response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	cAMP response element binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:137612987G>A	AJ549092	CCDS34760.1, CCDS59083.1	7q34	2013-01-10			ENSG00000182158	ENSG00000182158		"""basic leucine zipper proteins"""	23720	protein-coding gene	gene with protein product		608834					Standard	NM_194071		Approved	BBF2H7, TCAG_1951439	uc003vtw.3	Q70SY1	OTTHUMG00000155744	ENST00000330387.6:c.228C>T	7.37:g.137612987G>A						CREB3L2_uc003vtx.1_Silent_p.L76L|CREB3L2_uc003vty.3_Silent_p.L76L|CREB3L2_uc003vtv.2_Silent_p.L13L	p.L76L	NM_194071	NP_919047	Q70SY1	CR3L2_HUMAN			2	623	-			76			Cytoplasmic (Potential).		Q6P454|Q6ZMR6	Silent	SNP	ENST00000330387.6	37	c.228C>T	CCDS34760.1	.	.	.	.	.	.	.	.	.	.	G	13.98	2.399142	0.42512	.	.	ENSG00000182158	ENST00000420629	T	0.53640	0.61	5.58	5.58	0.84498	.	.	.	.	.	T	0.51975	0.1706	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.48222	-0.9054	5	.	.	.	-14.1566	9.7057	0.40214	0.0732:0.2554:0.6713:0.0	.	.	.	.	L	10	ENSP00000402889:S10L	.	S	-	2	0	CREB3L2	137263527	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	3.574000	0.53863	2.617000	0.88574	0.650000	0.86243	TCA		0.572	CREB3L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341462.1	NM_194071		5	12	0	0	0	0.000602	0	5	12				
PRSS37	136242	broad.mit.edu	37	7	141536247	141536247	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr7:141536247G>T	ENST00000350549.3	-	5	1027	c.656C>A	c.(655-657)aCc>aAc	p.T219N	PRSS37_ENST00000438520.1_Missense_Mutation_p.T219N	NM_001008270.2|NM_001171951.1	NP_001008271.2|NP_001165422.1	A4D1T9	PRS37_HUMAN	protease, serine, 37	219	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				binding of sperm to zona pellucida (GO:0007339)|cell migration (GO:0016477)|protein maturation (GO:0051604)	extracellular region (GO:0005576)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)	p.T219N(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(3)	15						GTAAACATTGGTGTAGATGCC	0.517																																							uc003vws.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(655-657)ACC>AAC		protease, serine, 37 precursor							209.0	177.0	188.0					7																	141536247		2203	4300	6503	SO:0001583	missense	136242				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr7:141536247G>T		CCDS34764.1	7q34	2010-05-07			ENSG00000165076	ENSG00000165076		"""Serine peptidases / Serine peptidases"""	29211	protein-coding gene	gene with protein product							Standard	NM_001008270		Approved		uc003vws.2	A4D1T9	OTTHUMG00000157174	ENST00000350549.3:c.656C>A	7.37:g.141536247G>T	ENSP00000297767:p.Thr219Asn					PRSS37_uc011krk.1_Missense_Mutation_p.T206N|PRSS37_uc011krl.1_Missense_Mutation_p.T218N|PRSS37_uc003vwt.1_Missense_Mutation_p.T206N	p.T219N	NM_001008270	NP_001008271	A4D1T9	PRS37_HUMAN			5	1028	-			219			Peptidase S1.		B2RPB5	Missense_Mutation	SNP	ENST00000350549.3	37	c.656C>A	CCDS34764.1	.	.	.	.	.	.	.	.	.	.	g	17.94	3.510572	0.64522	.	.	ENSG00000165076	ENST00000350549;ENST00000438520	T;T	0.54479	0.57;0.57	5.28	5.28	0.74379	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.64402	D	0.000017	T	0.73768	0.3629	M	0.83483	2.645	0.43230	D	0.995128	D;D	0.57571	0.98;0.98	D;D	0.65573	0.936;0.936	T	0.77216	-0.2669	10	0.72032	D	0.01	.	16.4526	0.83997	0.0:0.0:1.0:0.0	.	218;219	B7ZMK3;A4D1T9	.;PRS37_HUMAN	N	219	ENSP00000297767:T219N;ENSP00000414461:T219N	ENSP00000297767:T219N	T	-	2	0	PRSS37	141182716	1.000000	0.71417	0.997000	0.53966	0.317000	0.28152	5.664000	0.68045	2.761000	0.94854	0.585000	0.79938	ACC		0.517	PRSS37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347763.1	NM_001008270		21	43	1	0	2.21704e-12	0.00278	3.33698e-12	21	43				
MGAM	8972	broad.mit.edu	37	7	141750516	141750516	+	Missense_Mutation	SNP	T	T	C			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr7:141750516T>C	ENST00000549489.2	+	24	2752	c.2657T>C	c.(2656-2658)aTt>aCt	p.I886T	MGAM_ENST00000475668.2_Missense_Mutation_p.I886T	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	886	Maltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)	p.I886T(3)		cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GAGGTGAATATTTCACAATCA	0.363																																							uc003vwy.2		NA																	3	Substitution - Missense(3)		lung(3)	ovary(2)	2						c.(2656-2658)ATT>ACT		maltase-glucoamylase	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)						66.0	57.0	60.0					7																	141750516		1820	4076	5896	SO:0001583	missense	8972				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	g.chr7:141750516T>C	AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.2657T>C	7.37:g.141750516T>C	ENSP00000447378:p.Ile886Thr						p.I886T	NM_004668	NP_004659	O43451	MGA_HUMAN			24	2711	+	Melanoma(164;0.0272)		886			Lumenal (Potential).|Maltase.		Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000549489.2	37	c.2657T>C	CCDS47727.1	.	.	.	.	.	.	.	.	.	.	T	13.29	2.193355	0.38707	.	.	ENSG00000257335	ENST00000549489;ENST00000475668;ENST00000548812	D	0.89681	-2.55	5.67	3.27	0.37495	.	0.507209	0.18305	N	0.145281	T	0.78104	0.4231	L	0.28054	0.825	0.09310	N	1	P	0.40302	0.712	B	0.34038	0.174	T	0.68089	-0.5501	10	0.48119	T	0.1	.	6.6098	0.22745	0.138:0.0757:0.0:0.7863	.	886	O43451	MGA_HUMAN	T	886;886;763	ENSP00000447378:I886T	ENSP00000316431:I763T	I	+	2	0	MGAM	141396985	0.245000	0.23899	0.011000	0.14972	0.846000	0.48090	2.310000	0.43708	0.423000	0.26033	0.374000	0.22700	ATT		0.363	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3			19	30	0	0	0	0.010504	0	19	30				
OR2A12	346525	broad.mit.edu	37	7	143793025	143793025	+	Silent	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr7:143793025G>T	ENST00000408949.2	+	1	885	c.825G>T	c.(823-825)ctG>ctT	p.L275L		NM_001004135.1	NP_001004135.1	Q8NGT7	O2A12_HUMAN	olfactory receptor, family 2, subfamily A, member 12	275						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25	Melanoma(164;0.0783)					TCCTTTCCCTGTTTTACAGCC	0.512																																							uc011kty.1		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(823-825)CTG>CTT		olfactory receptor, family 2, subfamily A,							216.0	207.0	210.0					7																	143793025		1905	4139	6044	SO:0001819	synonymous_variant	346525				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143793025G>T		CCDS43670.1	7q35	2013-09-20	2002-11-13	2002-11-13	ENSG00000221858	ENSG00000221858		"""GPCR / Class A : Olfactory receptors"""	15082	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily A, member 12 pseudogene"""	OR2A12P			Standard	NM_001004135		Approved		uc011kty.2	Q8NGT7	OTTHUMG00000157996	ENST00000408949.2:c.825G>T	7.37:g.143793025G>T							p.L275L	NM_001004135	NP_001004135	Q8NGT7	O2A12_HUMAN			1	825	+	Melanoma(164;0.0783)		275			Helical; Name=7; (Potential).		Q6IF43	Silent	SNP	ENST00000408949.2	37	c.825G>T	CCDS43670.1																																																																																				0.512	OR2A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349969.1			10	352	1	0	1.58986e-06	0.008291	1.93433e-06	10	352				
ARHGEF5	7984	broad.mit.edu	37	7	144070359	144070359	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr7:144070359G>C	ENST00000056217.5	+	10	4296	c.4122G>C	c.(4120-4122)aaG>aaC	p.K1374N	ARHGEF5_ENST00000471847.2_Missense_Mutation_p.K296N	NM_005435.3	NP_005426.2	Q12774	ARHG5_HUMAN	Rho guanine nucleotide exchange factor (GEF) 5	1374					actin cytoskeleton organization (GO:0030036)|intracellular signal transduction (GO:0035556)|myeloid dendritic cell chemotaxis (GO:0002408)|positive regulation of podosome assembly (GO:0071803)|regulation of Rho GTPase activity (GO:0032319)		GTP binding (GO:0005525)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.K1374N(1)		breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Melanoma(164;0.14)					TGAGCCAGAAGATTGAGTTTG	0.532																																							uc003wel.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(4120-4122)AAG>AAC		rho guanine nucleotide exchange factor 5							117.0	107.0	110.0					7																	144070359		2030	4041	6071	SO:0001583	missense	7984				intracellular signal transduction|regulation of Rho protein signal transduction	intracellular	GTP binding|protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr7:144070359G>C	U02082	CCDS34771.1	7q35	2012-09-20			ENSG00000050327	ENSG00000050327		"""Rho guanine nucleotide exchange factors"""	13209	protein-coding gene	gene with protein product	"""transforming immortalized mammary oncogene"", ""guanine nucleotide regulatory protein TIM"""	600888				8134109, 7656213	Standard	NM_005435		Approved	TIM, TIM1, GEF5, P60	uc003wel.3	Q12774	OTTHUMG00000158004	ENST00000056217.5:c.4122G>C	7.37:g.144070359G>C	ENSP00000056217:p.Lys1374Asn					ARHGEF5_uc003wek.2_Missense_Mutation_p.K1374N|ARHGEF5_uc003wem.2_Missense_Mutation_p.K229N	p.K1374N	NM_005435	NP_005426	Q12774	ARHG5_HUMAN			10	4240	+	Melanoma(164;0.14)		1374					A6NNJ2|Q6ZML7	Missense_Mutation	SNP	ENST00000056217.5	37	c.4122G>C	CCDS34771.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.06|16.06	3.015895|3.015895	0.54468|0.54468	.|.	.|.	ENSG00000050327|ENSG00000050327	ENST00000056217;ENST00000344879;ENST00000471847|ENST00000474817	D;D|.	0.87334|.	-2.24;-2.24|.	4.53|4.53	2.72|2.72	0.32119|0.32119	Dbl homology (DH) domain (1);Pleckstrin homology-type (1);|.	0.117105|.	0.56097|.	D|.	0.000025|.	T|T	0.70806|0.70806	0.3266|0.3266	M|M	0.80422|0.80422	2.495|2.495	0.51012|0.51012	D|D	0.999902|0.999902	B;P|.	0.39480|.	0.054;0.675|.	B;B|.	0.38428|.	0.062;0.273|.	T|T	0.68458|0.68458	-0.5403|-0.5403	10|5	0.72032|.	D|.	0.01|.	-35.1674|-35.1674	8.4974|8.4974	0.33136|0.33136	0.1909:0.0:0.8091:0.0|0.1909:0.0:0.8091:0.0	.|.	229;1374|.	B3KQX6;Q12774|.	.;ARHG5_HUMAN|.	N|T	1374;229;296|628	ENSP00000056217:K1374N;ENSP00000418227:K296N|.	ENSP00000056217:K1374N|.	K|R	+|+	3|2	2|0	ARHGEF5|ARHGEF5	143701292|143701292	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	1.832000|1.832000	0.39151|0.39151	0.530000|0.530000	0.28619|0.28619	0.650000|0.650000	0.86243|0.86243	AAG|AGA		0.532	ARHGEF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349981.1	NM_005435		24	60	0	0	0	0.009535	0	24	60				
TPK1	27010	broad.mit.edu	37	7	144320281	144320281	+	Missense_Mutation	SNP	T	T	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr7:144320281T>A	ENST00000360057.3	-	6	434	c.332A>T	c.(331-333)aAg>aTg	p.K111M	TPK1_ENST00000549981.1_De_novo_Start_OutOfFrame|TPK1_ENST00000378099.3_Missense_Mutation_p.K111M|TPK1_ENST00000547966.1_5'UTR|TPK1_ENST00000538212.2_Missense_Mutation_p.K106M	NM_022445.3	NP_071890.2	Q9H3S4	TPK1_HUMAN	thiamin pyrophosphokinase 1	111					small molecule metabolic process (GO:0044281)|thiamine diphosphate biosynthetic process (GO:0009229)|thiamine metabolic process (GO:0006772)|thiamine-containing compound metabolic process (GO:0042723)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|thiamine binding (GO:0030975)|thiamine diphosphokinase activity (GO:0004788)	p.K111M(1)		large_intestine(3)|lung(12)|ovary(2)|urinary_tract(2)	19					Thiamine(DB00152)	TTCTTCTATCTTCTTTTGGAG	0.323																																					Ovarian(45;88 1034 2073 5829 28455)	Ovarian(45;88 1034 2073 5829 28455)	uc003weq.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(331-333)AAG>ATG		thiamin pyrophosphokinase 1 isoform a	Thiamine(DB00152)						182.0	196.0	192.0					7																	144320281		2203	4300	6503	SO:0001583	missense	27010				thiamine diphosphate biosynthetic process	cytosol	ATP binding|kinase activity|thiamine diphosphokinase activity	g.chr7:144320281T>A	AB028138	CCDS5888.1, CCDS55178.1	7q34-q35	2008-07-18			ENSG00000196511	ENSG00000196511			17358	protein-coding gene	gene with protein product	"""placental protein 20"", ""thiamine pyrophosphokinase 1"", ""thiamine kinase"", ""thiamine diphosphokinase"""	606370				11342111	Standard	NM_022445		Approved	HTPK1, PP20	uc003weq.3	Q9H3S4	OTTHUMG00000152774	ENST00000360057.3:c.332A>T	7.37:g.144320281T>A	ENSP00000353165:p.Lys111Met					TPK1_uc003weo.2_Missense_Mutation_p.K106M|TPK1_uc003wep.2_RNA|TPK1_uc003wer.2_Missense_Mutation_p.K111M|TPK1_uc003wes.2_RNA	p.K111M	NM_022445	NP_071890	Q9H3S4	TPK1_HUMAN			6	435	-			111					A8K0T7|D3DWG0|I6L9B8|Q6NUR5|Q9H602	Missense_Mutation	SNP	ENST00000360057.3	37	c.332A>T	CCDS5888.1	.	.	.	.	.	.	.	.	.	.	T	15.35	2.808287	0.50421	.	.	ENSG00000196511	ENST00000360057;ENST00000538212;ENST00000378099;ENST00000552881	D;D;D;D	0.83755	-1.66;-1.76;-1.76;-1.66	6.02	4.83	0.62350	Thiamin pyrophosphokinase, catalytic domain (3);	0.130720	0.64402	D	0.000001	D	0.87229	0.6125	M	0.66939	2.045	0.80722	D	1	D;D;D	0.89917	0.997;0.989;1.0	P;P;D	0.69142	0.896;0.893;0.962	D	0.84327	0.0519	10	0.27785	T	0.31	-15.3035	7.7919	0.29125	0.0:0.1058:0.0:0.8942	.	111;111;106	F5GZG6;Q9H3S4;Q6ZQX6	.;TPK1_HUMAN;.	M	111;106;111;111	ENSP00000353165:K111M;ENSP00000438813:K106M;ENSP00000367339:K111M;ENSP00000448655:K111M	ENSP00000353165:K111M	K	-	2	0	TPK1	143951214	1.000000	0.71417	0.986000	0.45419	0.905000	0.53344	1.723000	0.38053	1.036000	0.39998	0.533000	0.62120	AAG		0.323	TPK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327777.1	NM_022445		31	115	0	0	0	0.008361	0	31	115				
EZH2	2146	broad.mit.edu	37	7	148508784	148508784	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr7:148508784G>T	ENST00000460911.1	-	16	1953	c.1865C>A	c.(1864-1866)gCa>gAa	p.A622E	EZH2_ENST00000476773.1_Missense_Mutation_p.A571E|EZH2_ENST00000483967.1_Missense_Mutation_p.A613E|EZH2_ENST00000320356.2_Missense_Mutation_p.A627E|EZH2_ENST00000541220.1_Missense_Mutation_p.A571E|EZH2_ENST00000478654.1_Missense_Mutation_p.A571E|EZH2_ENST00000350995.2_Missense_Mutation_p.A583E			Q15910	EZH2_HUMAN	enhancer of zeste 2 polycomb repressive complex 2 subunit	622	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				cellular response to hydrogen peroxide (GO:0070301)|cerebellar cortex development (GO:0021695)|chromatin organization (GO:0006325)|DNA methylation (GO:0006306)|G1 to G0 transition (GO:0070314)|histone H3-K27 methylation (GO:0070734)|negative regulation of epidermal cell differentiation (GO:0045605)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of striated muscle cell differentiation (GO:0051154)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|protein localization to chromatin (GO:0071168)|regulation of cell proliferation (GO:0042127)|regulation of circadian rhythm (GO:0042752)|regulation of gliogenesis (GO:0014013)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)|RNA binding (GO:0003723)|sequence-specific DNA binding (GO:0043565)	p.A627E(1)|p.A583E(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3)	359	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)			CCCCCAGCCTGCCACGTCAGA	0.428			Mis		DLBCL																																		uc003wfd.1		NA		Rec?	yes		7	7q35-q36	2146	Mis	enhancer of zeste homolog 2			L			DLBCL		2	Substitution - Missense(2)		lung(2)	haematopoietic_and_lymphoid_tissue(180)|skin(2)|large_intestine(1)	183						c.(1864-1866)GCA>GAA		enhancer of zeste 2 isoform a							67.0	64.0	65.0					7																	148508784		2203	4300	6503	SO:0001583	missense	2146				negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|histone-lysine N-methyltransferase activity|protein binding	g.chr7:148508784G>T		CCDS5891.1, CCDS5892.1, CCDS56516.1, CCDS56517.1, CCDS56518.1	7q35-q36	2014-09-17	2014-05-28		ENSG00000106462	ENSG00000106462		"""Chromatin-modifying enzymes / K-methyltransferases"""	3527	protein-coding gene	gene with protein product		601573	"""enhancer of zeste (Drosophila) homolog 2"", ""enhancer of zeste homolog 2 (Drosophila)"""			8954776, 17172412	Standard	NM_152998		Approved	EZH1, ENX-1, KMT6, KMT6A	uc003wfb.2	Q15910	OTTHUMG00000158973	ENST00000460911.1:c.1865C>A	7.37:g.148508784G>T	ENSP00000419711:p.Ala622Glu					EZH2_uc011kug.1_Missense_Mutation_p.A571E|EZH2_uc003wfb.1_Missense_Mutation_p.A627E|EZH2_uc003wfc.1_Missense_Mutation_p.A583E|EZH2_uc011kuh.1_Missense_Mutation_p.A613E	p.A622E	NM_004456	NP_004447	Q15910	EZH2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00239)		16	2031	-	Melanoma(164;0.15)		622			SET.		B2RAQ1|B3KS30|B7Z1D6|B7Z7L6|Q15755|Q75MG3|Q92857|Q96FI6	Missense_Mutation	SNP	ENST00000460911.1	37	c.1865C>A	CCDS56516.1	.	.	.	.	.	.	.	.	.	.	g	31	5.099393	0.94197	.	.	ENSG00000106462	ENST00000478654;ENST00000320356;ENST00000460911;ENST00000350995;ENST00000541220;ENST00000476773;ENST00000483967	D;T;T;T;D;D;T	0.89415	-2.51;-1.34;-1.34;-1.34;-2.51;-2.51;-1.34	5.63	4.74	0.60224	SET domain (2);	0.000000	0.85682	D	0.000000	D	0.92482	0.7613	L	0.49256	1.55	0.80722	D	1	D;D;D;D;D	0.76494	0.999;0.999;0.992;0.997;0.971	D;D;P;D;P	0.74023	0.982;0.982;0.874;0.97;0.681	D	0.93089	0.6498	10	0.66056	D	0.02	.	15.9798	0.80097	0.0:0.0:0.8642:0.1358	.	613;571;622;583;627	Q15910-4;Q15910-5;Q15910;Q15910-3;Q15910-2	.;.;EZH2_HUMAN;.;.	E	571;627;622;583;571;571;613	ENSP00000417062:A571E;ENSP00000320147:A627E;ENSP00000419711:A622E;ENSP00000223193:A583E;ENSP00000443219:A571E;ENSP00000419050:A571E;ENSP00000419856:A613E	ENSP00000320147:A627E	A	-	2	0	EZH2	148139717	1.000000	0.71417	0.998000	0.56505	0.999000	0.98932	9.553000	0.98118	1.368000	0.46115	0.655000	0.94253	GCA		0.428	EZH2-008	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352744.1	NM_004456		10	38	1	0	0.00621372	0.006214	0.00657393	10	38				
ZNF398	57541	broad.mit.edu	37	7	148851299	148851299	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr7:148851299G>T	ENST00000475153.1	+	2	554	c.287G>T	c.(286-288)tGg>tTg	p.W96L	ZNF398_ENST00000485111.1_3'UTR|ZNF398_ENST00000483892.1_5'UTR|ZNF398_ENST00000491174.1_5'UTR|ZNF398_ENST00000335901.4_5'UTR|ZNF398_ENST00000426851.2_5'UTR|ZNF398_ENST00000420008.2_5'UTR|ZNF398_ENST00000540950.1_Missense_Mutation_p.W101L			Q8TD17	ZN398_HUMAN	zinc finger protein 398	96					positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.W96L(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)	25	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00143)			GAGGGCAAGTGGGCCGTGCTG	0.597																																							uc003wfl.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(286-288)TGG>TTG		zinc finger 398 isoform a							63.0	66.0	65.0					7																	148851299		2203	4300	6503	SO:0001583	missense	57541				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:148851299G>T	AB037760	CCDS5894.1, CCDS47739.1	7q35	2013-01-08			ENSG00000197024	ENSG00000197024		"""Zinc fingers, C2H2-type"", ""-"""	18373	protein-coding gene	gene with protein product						11779858	Standard	NM_170686		Approved	ZER6, KIAA1339, P51, P71	uc003wfl.3	Q8TD17	OTTHUMG00000158970	ENST00000475153.1:c.287G>T	7.37:g.148851299G>T	ENSP00000420418:p.Trp96Leu					ZNF398_uc011kul.1_5'UTR|ZNF398_uc011kum.1_Missense_Mutation_p.W101L	p.W96L	NM_170686	NP_733787	Q8TD17	ZN398_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00143)		2	562	+	Melanoma(164;0.15)		96					A8K384|B4E377|Q8TD18|Q9P2K7|Q9UDV8	Missense_Mutation	SNP	ENST00000475153.1	37	c.287G>T	CCDS5894.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.164546	0.78339	.	.	ENSG00000197024	ENST00000475153;ENST00000540950	T;T	0.25414	1.8;1.8	5.18	5.18	0.71444	.	0.000000	0.43416	D	0.000572	T	0.38054	0.1026	L	0.29908	0.895	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.87578	0.995;0.998	T	0.06770	-1.0808	10	0.38643	T	0.18	-15.4703	14.2249	0.65853	0.0:0.0:1.0:0.0	.	101;96	B4DXA9;Q8TD17	.;ZN398_HUMAN	L	96;101	ENSP00000420418:W96L;ENSP00000439340:W101L	ENSP00000420418:W96L	W	+	2	0	ZNF398	148482232	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	2.328000	0.43867	2.420000	0.82092	0.655000	0.94253	TGG		0.597	ZNF398-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352722.2			24	52	1	0	1.66031e-10	0.003954	2.34693e-10	24	52				
AOC1	26	broad.mit.edu	37	7	150553925	150553925	+	Missense_Mutation	SNP	T	T	G			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr7:150553925T>G	ENST00000493429.1	+	4	951	c.367T>G	c.(367-369)Tgc>Ggc	p.C123G	AOC1_ENST00000467291.1_Missense_Mutation_p.C123G|AOC1_ENST00000416793.2_Missense_Mutation_p.C123G|AOC1_ENST00000360937.4_Missense_Mutation_p.C123G			P19801	AOC1_HUMAN	amine oxidase, copper containing 1	123					amine metabolic process (GO:0009308)|cellular response to azide (GO:0097185)|cellular response to copper ion (GO:0071280)|cellular response to copper ion starvation (GO:0035874)|cellular response to heparin (GO:0071504)|cellular response to histamine (GO:0071420)|oxidation-reduction process (GO:0055114)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	calcium ion binding (GO:0005509)|cation channel activity (GO:0005261)|copper ion binding (GO:0005507)|diamine oxidase activity (GO:0052597)|drug binding (GO:0008144)|heparin binding (GO:0008201)|histamine oxidase activity (GO:0052598)|methylputrescine oxidase activity (GO:0052599)|primary amine oxidase activity (GO:0008131)|propane-1,3-diamine oxidase activity (GO:0052600)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|quinone binding (GO:0048038)|receptor activity (GO:0004872)|sodium channel activity (GO:0005272)|zinc ion binding (GO:0008270)	p.C123G(1)								Amiloride(DB00594)	GCCAGGGCCCTGCTACATGCG	0.622																																						Pancreas(195;1227 3054 24912 28503)	uc003why.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(2)|skin(2)	6						c.(367-369)TGC>GGC		amiloride binding protein 1 precursor	Amiloride(DB00594)|Spermine(DB00127)						65.0	66.0	66.0					7																	150553925		1918	4128	6046	SO:0001583	missense	26				amine metabolic process	extracellular space|peroxisome	copper ion binding|diamine oxidase activity|heparin binding|histamine oxidase activity|methylputrescine oxidase activity|primary amine oxidase activity|propane-1,3-diamine oxidase activity|quinone binding	g.chr7:150553925T>G	AK092514	CCDS43679.1, CCDS64797.1	7q36.1	2013-06-19	2013-06-19	2013-06-19	ENSG00000002726	ENSG00000002726	1.4.3.22		80	protein-coding gene	gene with protein product	"""diamine oxidase"""	104610	"""amiloride binding protein 1 (amine oxidase (copper-containing))"""	ABP1		8182053	Standard	NM_001091		Approved	DAO	uc003wia.2	P19801	OTTHUMG00000158306	ENST00000493429.1:c.367T>G	7.37:g.150553925T>G	ENSP00000418614:p.Cys123Gly					ABP1_uc003whz.1_Missense_Mutation_p.C123G|ABP1_uc003wia.1_Missense_Mutation_p.C123G	p.C123G	NM_001091	NP_001082	P19801	ABP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	4585	+	all_neural(206;0.219)		123					C9J690|Q16683|Q16684|Q56II4|Q6GU42	Missense_Mutation	SNP	ENST00000493429.1	37	c.367T>G	CCDS43679.1	.	.	.	.	.	.	.	.	.	.	T	0.926	-0.714304	0.03206	.	.	ENSG00000002726	ENST00000493429;ENST00000467291;ENST00000460213;ENST00000360937;ENST00000416793;ENST00000483043	T;T;T;T;T;T	0.28895	1.59;1.59;1.59;1.59;1.59;1.59	5.28	-10.6	0.00265	Copper amine oxidase, N2/N3-terminal (1);Copper amine oxidase, N-terminal (1);Copper amine oxidase, N2-terminal (1);	1.883920	0.02612	N	0.102268	T	0.13670	0.0331	N	0.14661	0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.08472	-1.0720	10	0.26408	T	0.33	-11.0395	6.269	0.20943	0.2486:0.1745:0.0:0.5769	.	123;123	C9J690;P19801	.;ABP1_HUMAN	G	123	ENSP00000418614:C123G;ENSP00000418328:C123G;ENSP00000418557:C123G;ENSP00000354193:C123G;ENSP00000411613:C123G;ENSP00000417392:C123G	ENSP00000354193:C123G	C	+	1	0	ABP1	150184858	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.343000	0.02642	-1.616000	0.01572	-2.107000	0.00358	TGC		0.622	AOC1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350628.1	NM_001091		4	84	0	0	0	0.000602	0	4	84				
RHEB	6009	broad.mit.edu	37	7	151174501	151174502	+	Splice_Site	DNP	CC	CC	GA			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr7:151174501_151174502CC>GA	ENST00000262187.5	-	4	605	c.193_193GG>TC	c.(193-195)GGga>TCgga	p.G65S	RHEB_ENST00000472642.1_5'UTR|RHEB_ENST00000496004.1_5'UTR	NM_005614.3	NP_005605.1	Q15382	RHEB_HUMAN	Ras homolog enriched in brain	65					cell cycle arrest (GO:0007050)|insulin receptor signaling pathway (GO:0008286)|positive regulation of TOR signaling (GO:0032008)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|spliceosomal complex (GO:0005681)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)	p.?(1)		breast(3)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)	14			OV - Ovarian serous cystadenocarcinoma(82;0.00306)	UCEC - Uterine corpus endometrioid carcinoma (81;0.174)		GAATATTCATCCTGTGGGGAAA	0.332																																					Pancreas(98;671 892 8111 15140 36556 39178 39939 44184)	Pancreas(98;671 892 8111 15140 36556 39178 39939 44184)	uc003wkh.1		NA																	1	Unknown(1)		lung(1)	large_intestine(1)|lung(1)	2						c.e4-1		Ras homolog enriched in brain precursor																																				SO:0001630	splice_region_variant	6009				cell cycle arrest|insulin receptor signaling pathway|positive regulation of TOR signaling cascade|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity|metal ion binding|protein binding	g.chr7:151174501_151174502CC>GA	D78132	CCDS5927.1	7q36	2014-05-09	2003-07-14	2003-07-14	ENSG00000106615	ENSG00000106615			10011	protein-coding gene	gene with protein product		601293	"""Ras homolog enriched in brain 2"""	RHEB2		8661031	Standard	NM_005614		Approved		uc003wkh.1	Q15382	OTTHUMG00000157330	ENST00000262187.5:c.193_193delinsGA	7.37:g.151174501_151174502delinsGA							p.D65_splice	NM_005614	NP_005605	Q15382	RHEB_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00306)	UCEC - Uterine corpus endometrioid carcinoma (81;0.174)	4	606	-								B3KWN6|D3DX13|Q53Y56|Q99444	Splice_Site	DNP	ENST00000262187.5	37	c.193_splice	CCDS5927.1																																																																																				0.332	RHEB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348468.2	NM_005614	Missense_Mutation	29	89	0	0	0	0.004672	0	29	89				
DPP6	1804	broad.mit.edu	37	7	154143394	154143394	+	Silent	SNP	G	G	T	rs376122301		TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr7:154143394G>T	ENST00000377770.3	+	2	480	c.339G>T	c.(337-339)tcG>tcT	p.S113S	DPP6_ENST00000427557.1_Silent_p.S51S|DPP6_ENST00000406326.1_Silent_p.S113S|DPP6_ENST00000496611.1_3'UTR|DPP6_ENST00000332007.3_Silent_p.S51S|DPP6_ENST00000404039.1_Silent_p.S49S			P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	113					cell death (GO:0008219)|neuronal action potential (GO:0019228)|positive regulation of potassium ion transmembrane transport (GO:1901381)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)	p.S113S(2)|p.S49S(1)|p.S51S(1)		NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			TCGTCACCTCGGTCATACTTC	0.433																																					NSCLC(125;1384 1783 2490 7422 34254)	NSCLC(125;1384 1783 2490 7422 34254)	uc003wlk.2		NA																	4	Substitution - coding silent(4)		lung(4)	pancreas(3)|breast(1)	4						c.(337-339)TCG>TCT		dipeptidyl-peptidase 6 isoform 1		G	,,	0,3918		0,0,1959	125.0	128.0	127.0		147,153,339	-7.5	0.8	7		127	1,8301		0,1,4150	no	coding-synonymous,coding-synonymous,coding-synonymous	DPP6	NM_001039350.1.dup,NM_001936.3.dup,NM_130797.2.dup	,,	0,1,6109	TT,TG,GG		0.012,0.0,0.0082	,,	49/153,51/155,113/217	154143394	1,12219	1959	4151	6110	SO:0001819	synonymous_variant	1804				cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity	g.chr7:154143394G>T	M96859	CCDS75682.1, CCDS75683.1, CCDS75684.1	7q36.2	2006-08-07	2006-01-12		ENSG00000130226	ENSG00000130226			3010	protein-coding gene	gene with protein product		126141	"""dipeptidylpeptidase VI"", ""dipeptidylpeptidase 6"""			1729689	Standard	XM_006715871		Approved	DPPX	uc003wlk.3	P42658	OTTHUMG00000151511	ENST00000377770.3:c.339G>T	7.37:g.154143394G>T						DPP6_uc003wli.2_Silent_p.S49S|DPP6_uc003wlj.2_Silent_p.S113S|DPP6_uc010lqh.1_Silent_p.S51S|DPP6_uc003wlm.2_Silent_p.S51S|DPP6_uc011kvq.1_Silent_p.S51S	p.S113S	NM_130797	NP_570629	P42658	DPP6_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0562)		2	468	+	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	113			Helical; Signal-anchor for type II membrane protein; (Potential).			Silent	SNP	ENST00000377770.3	37	c.339G>T																																																																																					0.433	DPP6-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000322932.1	NM_130797		23	57	1	0	1.64293e-13	0.00333	2.55567e-13	23	57				
DPP6	1804	broad.mit.edu	37	7	154684101	154684101	+	Silent	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr7:154684101C>A	ENST00000377770.3	+	26	2650	c.2509C>A	c.(2509-2511)Cgg>Agg	p.R837R	DPP6_ENST00000427557.1_Silent_p.R730R|DPP6_ENST00000332007.3_Silent_p.R775R|DPP6_ENST00000404039.1_Silent_p.R773R			P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	837					cell death (GO:0008219)|neuronal action potential (GO:0019228)|positive regulation of potassium ion transmembrane transport (GO:1901381)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)	p.R773R(1)|p.R775R(1)|p.R837R(1)		NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			GCATCTGTACCGGTCCATCAT	0.512																																					NSCLC(125;1384 1783 2490 7422 34254)	NSCLC(125;1384 1783 2490 7422 34254)	uc003wlk.2		NA																	3	Substitution - coding silent(3)		lung(3)	pancreas(3)|breast(1)	4						c.(2509-2511)CGG>AGG		dipeptidyl-peptidase 6 isoform 1							121.0	128.0	126.0					7																	154684101		2091	4223	6314	SO:0001819	synonymous_variant	1804				cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity	g.chr7:154684101C>A	M96859	CCDS75682.1, CCDS75683.1, CCDS75684.1	7q36.2	2006-08-07	2006-01-12		ENSG00000130226	ENSG00000130226			3010	protein-coding gene	gene with protein product		126141	"""dipeptidylpeptidase VI"", ""dipeptidylpeptidase 6"""			1729689	Standard	XM_006715871		Approved	DPPX	uc003wlk.3	P42658	OTTHUMG00000151511	ENST00000377770.3:c.2509C>A	7.37:g.154684101C>A						DPP6_uc003wli.2_Silent_p.R773R|DPP6_uc003wlm.2_Silent_p.R775R|DPP6_uc011kvq.1_Silent_p.R730R	p.R837R	NM_130797	NP_570629	P42658	DPP6_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0562)		26	2638	+	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	837			Extracellular (Potential).			Silent	SNP	ENST00000377770.3	37	c.2509C>A																																																																																					0.512	DPP6-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000322932.1	NM_130797		18	53	1	0	5.03518e-11	0.007413	7.25805e-11	18	53				
RBM33	155435	broad.mit.edu	37	7	155504087	155504087	+	Missense_Mutation	SNP	A	A	G	rs368289767		TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr7:155504087A>G	ENST00000401878.3	+	8	1337	c.1139A>G	c.(1138-1140)cAg>cGg	p.Q380R	RBM33_ENST00000486747.1_3'UTR	NM_053043.2	NP_444271.2	Q96EV2	RBM33_HUMAN	RNA binding motif protein 33	380	Pro-rich.						nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.Q380R(2)		breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	27	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)		GTGACTCCACAGCAGCCCAAG	0.562																																							uc010lqk.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1138-1140)CAG>CGG		RNA binding motif protein 33							61.0	73.0	69.0					7																	155504087		2097	4226	6323	SO:0001583	missense	155435						nucleotide binding|RNA binding	g.chr7:155504087A>G	AL832196	CCDS5941.2	7q36.3	2013-02-12			ENSG00000184863	ENSG00000184863		"""RNA binding motif (RRM) containing"""	27223	protein-coding gene	gene with protein product			"""proline rich 8"""	PRR8			Standard	NM_053043		Approved	DKFZp686F102, MGC20460, DKFZp434D1319	uc010lqk.1	Q96EV2	OTTHUMG00000150260	ENST00000401878.3:c.1139A>G	7.37:g.155504087A>G	ENSP00000384160:p.Gln380Arg					RBM33_uc011kvv.1_Missense_Mutation_p.Q189R	p.Q380R	NM_053043	NP_444271	Q96EV2	RBM33_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)	8	1507	+	all_neural(206;0.101)	all_hematologic(28;0.0592)	380			Pro-rich.		A4D244|B5MC24|Q52LF5|Q75LN9|Q75ML5|Q9NSV0	Missense_Mutation	SNP	ENST00000401878.3	37	c.1139A>G	CCDS5941.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.26|16.26	3.071895|3.071895	0.55646|0.55646	.|.	.|.	ENSG00000184863|ENSG00000184863	ENST00000401878;ENST00000440108|ENST00000392761	T|.	0.59083|.	0.29|.	4.93|4.93	3.74|3.74	0.42951|0.42951	.|.	.|.	.|.	.|.	.|.	T|T	0.59622|0.59622	0.2207|0.2207	L|L	0.51422|0.51422	1.61|1.61	0.80722|0.80722	D|D	1|1	D;D|.	0.62365|.	0.983;0.991|.	P;P|.	0.56751|.	0.6;0.805|.	T|T	0.54735|0.54735	-0.8249|-0.8249	9|5	0.12430|.	T|.	0.62|.	.|.	11.6817|11.6817	0.51461|0.51461	0.8514:0.1486:0.0:0.0|0.8514:0.1486:0.0:0.0	.|.	97;380|.	B4DVQ2;Q96EV2|.	.;RBM33_HUMAN|.	R|G	380;281|152	ENSP00000384160:Q380R|.	ENSP00000384160:Q380R|.	Q|S	+|+	2|1	0|0	RBM33|RBM33	155196848|155196848	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.839000|0.839000	0.47603|0.47603	2.944000|2.944000	0.49034|0.49034	0.711000|0.711000	0.32018|0.32018	0.455000|0.455000	0.32223|0.32223	CAG|AGC		0.562	RBM33-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317225.3	NM_001008408		13	23	0	0	0	0.001368	0	13	23				
CSMD1	64478	broad.mit.edu	37	8	3443692	3443692	+	Silent	SNP	G	G	C	rs376686325		TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr8:3443692G>C	ENST00000520002.1	-	10	1746	c.1191C>G	c.(1189-1191)ctC>ctG	p.L397L	CSMD1_ENST00000602557.1_Silent_p.L397L|CSMD1_ENST00000537824.1_Silent_p.L396L|CSMD1_ENST00000602723.1_Silent_p.L397L|CSMD1_ENST00000539096.1_Silent_p.L396L|CSMD1_ENST00000400186.3_Silent_p.L397L|CSMD1_ENST00000542608.1_Silent_p.L396L			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	397	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)		p.L396L(1)|p.L125L(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TCCAAGCAGCGAGCGTCTCTG	0.478																																							uc011kwk.1		NA																	2	Substitution - coding silent(2)		lung(2)	breast(20)|large_intestine(5)	25						c.(1189-1191)CTC>CTG		CUB and Sushi multiple domains 1 precursor		G		0,3876		0,0,1938	47.0	46.0	47.0		1188	-10.2	0.0	8		47	1,8263		0,1,4131	no	coding-synonymous	CSMD1	NM_033225.5		0,1,6069	CC,CG,GG		0.0121,0.0,0.0082		396/3565	3443692	1,12139	1938	4132	6070	SO:0001819	synonymous_variant	64478					integral to membrane		g.chr8:3443692G>C			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.1191C>G	8.37:g.3443692G>C							p.L397L	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	9	1581	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	397			Extracellular (Potential).|Sushi 2.		Q0H0J5|Q96QU9|Q96RM4	Silent	SNP	ENST00000520002.1	37	c.1191C>G																																																																																					0.478	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		6	8	0	0	0	0.001984	0	6	8				
CSMD1	64478	broad.mit.edu	37	8	3565937	3565937	+	Splice_Site	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr8:3565937G>T	ENST00000520002.1	-	7	1563	c.1008C>A	c.(1006-1008)gtC>gtA	p.V336V	CSMD1_ENST00000602557.1_Splice_Site_p.V336V|CSMD1_ENST00000537824.1_Splice_Site_p.V336V|CSMD1_ENST00000602723.1_Splice_Site_p.V336V|CSMD1_ENST00000539096.1_Splice_Site_p.V336V|CSMD1_ENST00000400186.3_Splice_Site_p.V336V|CSMD1_ENST00000542608.1_Splice_Site_p.V336V			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	336						integral component of membrane (GO:0016021)		p.V336V(1)|p.V64V(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GGGACTCACAGACAGAGTTTT	0.478																																							uc011kwk.1		NA																	2	Substitution - coding silent(2)		lung(2)	breast(20)|large_intestine(5)	25						c.(1006-1008)GTC>GTA		CUB and Sushi multiple domains 1 precursor							88.0	90.0	89.0					8																	3565937		1986	4166	6152	SO:0001630	splice_region_variant	64478					integral to membrane		g.chr8:3565937G>T			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.1009+1C>A	8.37:g.3565937G>T							p.V336V	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	7	1398	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	336			Extracellular (Potential).		Q0H0J5|Q96QU9|Q96RM4	Silent	SNP	ENST00000520002.1	37	c.1008C>A																																																																																					0.478	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225	Silent	7	36	1	0	1.26484e-09	0.00308	1.72127e-09	7	36				
RP1L1	94137	broad.mit.edu	37	8	10465982	10465982	+	Missense_Mutation	SNP	C	C	A	rs199697887		TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr8:10465982C>A	ENST00000382483.3	-	4	5849	c.5626G>T	c.(5626-5628)Gcc>Tcc	p.A1876S		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1956					cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)		p.A1876S(1)		breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		GCCTCTGGGGCCTCTACATCT	0.622																																							uc003wtc.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|breast(3)|central_nervous_system(1)	8						c.(5626-5628)GCC>TCC		retinitis pigmentosa 1-like 1							160.0	174.0	170.0					8																	10465982		1920	4137	6057	SO:0001583	missense	94137				intracellular signal transduction			g.chr8:10465982C>A	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.5626G>T	8.37:g.10465982C>A	ENSP00000371923:p.Ala1876Ser						p.A1876S	NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	4	5855	-			1876					Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	ENST00000382483.3	37	c.5626G>T	CCDS43708.1	.	.	.	.	.	.	.	.	.	.	C	1.917	-0.449212	0.04572	.	.	ENSG00000183638	ENST00000382483	T	0.07688	3.17	0.554	-0.487	0.12060	.	.	.	.	.	T	0.04407	0.0121	N	0.24115	0.695	0.09310	N	1	B	0.20459	0.045	B	0.09377	0.004	T	0.47169	-0.9138	8	0.14252	T	0.57	.	.	.	.	.	1876	A6NKC6	.	S	1876	ENSP00000371923:A1876S	ENSP00000371923:A1876S	A	-	1	0	RP1L1	10503392	0.000000	0.05858	0.015000	0.15790	0.035000	0.12851	-0.836000	0.04382	-0.289000	0.09038	0.305000	0.20034	GCC		0.622	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			57	163	1	0	1.3268e-25	0.00361	2.4171e-25	57	163				
RP1L1	94137	broad.mit.edu	37	8	10467184	10467184	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr8:10467184G>A	ENST00000382483.3	-	4	4647	c.4424C>T	c.(4423-4425)cCt>cTt	p.P1475L		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1555					cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)		p.P1475L(1)		breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		TTCCAAACCAGGCTCAAGCTG	0.657																																							uc003wtc.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|breast(3)|central_nervous_system(1)	8						c.(4423-4425)CCT>CTT		retinitis pigmentosa 1-like 1							42.0	48.0	46.0					8																	10467184		1987	4190	6177	SO:0001583	missense	94137				intracellular signal transduction			g.chr8:10467184G>A	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.4424C>T	8.37:g.10467184G>A	ENSP00000371923:p.Pro1475Leu						p.P1475L	NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	4	4653	-			1475					Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	ENST00000382483.3	37	c.4424C>T	CCDS43708.1	.	.	.	.	.	.	.	.	.	.	G	0.960	-0.703484	0.03255	.	.	ENSG00000183638	ENST00000382483	T	0.03689	3.84	4.78	2.98	0.34508	.	0.790133	0.10370	N	0.682891	T	0.02688	0.0081	N	0.19112	0.55	0.09310	N	1	P	0.35272	0.493	B	0.29942	0.109	T	0.48269	-0.9050	10	0.36615	T	0.2	-0.426	7.2567	0.26181	0.0825:0.0:0.6202:0.2973	.	1475	A6NKC6	.	L	1475	ENSP00000371923:P1475L	ENSP00000371923:P1475L	P	-	2	0	RP1L1	10504594	0.000000	0.05858	0.001000	0.08648	0.060000	0.15804	0.658000	0.24979	0.615000	0.30124	0.561000	0.74099	CCT		0.657	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			10	63	0	0	0	0.001368	0	10	63				
RP1L1	94137	broad.mit.edu	37	8	10468596	10468597	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr8:10468596_10468597CC>AA	ENST00000382483.3	-	4	3234_3235	c.3011_3012GG>TT	c.(3010-3012)gGG>gTT	p.G1004V		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1004					cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)		p.G1004V(1)		breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		GAGCTGGCTCCCCCAGGCCTTC	0.658																																							uc003wtc.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|breast(3)|central_nervous_system(1)	8						c.(3010-3012)GGG>GTT		retinitis pigmentosa 1-like 1																																				SO:0001583	missense	94137				intracellular signal transduction			g.chr8:10468596_10468597CC>AA	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.3011_3012delinsAA	8.37:g.10468596_10468597delinsAA	ENSP00000371923:p.Gly1004Val						p.G1004V	NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	4	3240_3241	-			1004					Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	DNP	ENST00000382483.3	37	c.3011_3012GG>TT	CCDS43708.1																																																																																				0.658	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			21	38	0	0	0	0.004672	0	21	38				
DEFB136	613210	broad.mit.edu	37	8	11832107	11832107	+	Start_Codon_SNP	SNP	A	A	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr8:11832107A>T	ENST00000382209.2	-	1	1	c.2T>A	c.(1-3)aTg>aAg	p.M1K		NM_001033018.2	NP_001028190.2	Q30KP8	DB136_HUMAN	defensin, beta 136	1					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)		p.M1K(1)		endometrium(2)|large_intestine(1)|lung(4)	7			STAD - Stomach adenocarcinoma(15;0.033)	COAD - Colon adenocarcinoma(149;0.163)		ACAGAGGTTCATGGCCGAAGA	0.542																																							uc011kxm.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1-3)ATG>AAG		beta-defensin 136 precursor							111.0	114.0	113.0					8																	11832107		1964	4159	6123	SO:0001582	initiator_codon_variant	613210				defense response to bacterium	extracellular region		g.chr8:11832107A>T	DQ012026	CCDS43709.1	8p23.1	2011-07-19			ENSG00000205884	ENSG00000205884		"""Defensins, beta"""	34433	protein-coding gene	gene with protein product						16033865	Standard	NM_001033018		Approved	DEFB137	uc011kxm.2	Q30KP8	OTTHUMG00000158720	ENST00000382209.2:c.2T>A	8.37:g.11832107A>T	ENSP00000371644:p.Met1Lys						p.M1K	NM_001033018	NP_001028190	Q30KP8	DB136_HUMAN	STAD - Stomach adenocarcinoma(15;0.033)	COAD - Colon adenocarcinoma(149;0.163)	1	2	-			1					Q4QY36	Missense_Mutation	SNP	ENST00000382209.2	37	c.2T>A	CCDS43709.1	.	.	.	.	.	.	.	.	.	.	A	14.04	2.416097	0.42817	.	.	ENSG00000205884	ENST00000382209	.	.	.	3.97	3.97	0.46021	.	0.000000	0.56097	D	0.000023	T	0.76154	0.3948	.	.	.	0.41825	D	0.990048	D	0.76494	0.999	D	0.78314	0.991	T	0.79009	-0.1978	8	0.87932	D	0	0.4649	9.5148	0.39098	1.0:0.0:0.0:0.0	.	1	Q30KP8	DB136_HUMAN	K	1	.	ENSP00000371644:M1K	M	-	2	0	DEFB136	11869516	0.942000	0.31987	0.816000	0.32577	0.044000	0.14063	2.802000	0.47916	2.017000	0.59298	0.454000	0.30748	ATG		0.542	DEFB136-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351889.1	NM_001033018	Missense_Mutation	37	97	0	0	0	0.003271	0	37	97				
MTMR7	9108	broad.mit.edu	37	8	17157479	17157479	+	Silent	SNP	G	G	C	rs146319076		TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr8:17157479G>C	ENST00000180173.5	-	14	1909	c.1875C>G	c.(1873-1875)tcC>tcG	p.S625S	VPS37A_ENST00000521162.1_3'UTR|MTMR7_ENST00000398099.3_Silent_p.S216S	NM_004686.4	NP_004677.3	Q9Y216	MTMR7_HUMAN	myotubularin related protein 7	625					inositol phosphate dephosphorylation (GO:0046855)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)	protein tyrosine phosphatase activity (GO:0004725)	p.S625S(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(8)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	32				Colorectal(111;0.112)		CCTCCACCCCGGACTCTTGGT	0.512													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16906	0.0		0.0	False		,,,				2504	0.0						uc003wxm.2		NA																	1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(1873-1875)TCC>TCG		myotubularin related protein 7							88.0	78.0	81.0					8																	17157479		2203	4300	6503	SO:0001819	synonymous_variant	9108						protein tyrosine phosphatase activity	g.chr8:17157479G>C	AF073482	CCDS34851.1	8p22	2011-06-09			ENSG00000003987	ENSG00000003987		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7454	protein-coding gene	gene with protein product		603562				9736772, 12890864	Standard	NM_004686		Approved		uc003wxm.3	Q9Y216	OTTHUMG00000163771	ENST00000180173.5:c.1875C>G	8.37:g.17157479G>C						MTMR7_uc011kya.1_Silent_p.S259S|MTMR7_uc011kyb.1_Silent_p.S216S	p.S625S	NM_004686	NP_004677	Q9Y216	MTMR7_HUMAN		Colorectal(111;0.112)	14	2114	-			625					A1L4K9|B4DG87|Q68DX4	Silent	SNP	ENST00000180173.5	37	c.1875C>G	CCDS34851.1																																																																																				0.512	MTMR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375311.1	NM_004686		9	29	0	0	0	0.008291	0	9	29				
SH2D4A	63898	broad.mit.edu	37	8	19221651	19221651	+	Missense_Mutation	SNP	A	A	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr8:19221651A>T	ENST00000265807.3	+	7	1186	c.775A>T	c.(775-777)Agg>Tgg	p.R259W	SH2D4A_ENST00000518040.1_Missense_Mutation_p.R214W|SH2D4A_ENST00000519207.1_Missense_Mutation_p.R259W	NM_001174160.1|NM_022071.3	NP_001167631.1|NP_071354.2	Q9H788	SH24A_HUMAN	SH2 domain containing 4A	259					negative regulation of phosphatase activity (GO:0010923)	cytoplasm (GO:0005737)	phosphatase binding (GO:0019902)	p.R259W(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|stomach(1)	16				Colorectal(111;0.0732)		AGACTACAAGAGGTTATCCCT	0.547																																							uc003wzb.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(775-777)AGG>TGG		SH2 domain containing 4A							76.0	78.0	78.0					8																	19221651		2203	4300	6503	SO:0001583	missense	63898					cytoplasm|nucleus	protein binding	g.chr8:19221651A>T	AY190323	CCDS6009.1, CCDS55206.1	8p21	2013-02-14			ENSG00000104611	ENSG00000104611		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""SH2 domain containing"""	26102	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 38"""	614968					Standard	NM_022071		Approved	FLJ20967, SH2A, PPP1R38	uc003wzc.3	Q9H788	OTTHUMG00000097005	ENST00000265807.3:c.775A>T	8.37:g.19221651A>T	ENSP00000265807:p.Arg259Trp					SH2D4A_uc011kym.1_Missense_Mutation_p.R214W|SH2D4A_uc003wzc.2_Missense_Mutation_p.R259W	p.R259W	NM_022071	NP_071354	Q9H788	SH24A_HUMAN		Colorectal(111;0.0732)	7	1111	+			259					B4DDR1|Q5XKC1|Q6NXE9|Q86YM2|Q96C88|Q9H7F7	Missense_Mutation	SNP	ENST00000265807.3	37	c.775A>T	CCDS6009.1	.	.	.	.	.	.	.	.	.	.	A	22.8	4.333289	0.81801	.	.	ENSG00000104611	ENST00000265807;ENST00000518040;ENST00000519207	T;T;T	0.22134	1.97;1.97;1.97	5.75	3.24	0.37175	.	0.000000	0.85682	D	0.000000	T	0.47358	0.1441	M	0.84433	2.695	0.53688	D	0.999973	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.51505	-0.8697	10	0.87932	D	0	.	10.2131	0.43152	0.6814:0.3186:0.0:0.0	.	214;259	B4DDR1;Q9H788	.;SH24A_HUMAN	W	259;214;259	ENSP00000265807:R259W;ENSP00000429482:R214W;ENSP00000428684:R259W	ENSP00000265807:R259W	R	+	1	2	SH2D4A	19265931	1.000000	0.71417	0.997000	0.53966	0.919000	0.55068	1.217000	0.32455	0.985000	0.38656	0.460000	0.39030	AGG		0.547	SH2D4A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214094.1	NM_022071		10	35	0	0	0	0.006214	0	10	35				
WRN	7486	broad.mit.edu	37	8	30921859	30921859	+	Missense_Mutation	SNP	A	A	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr8:30921859A>T	ENST00000298139.5	+	4	513	c.264A>T	c.(262-264)ttA>ttT	p.L88F		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	88	3'-5' exonuclease.|Interaction with WRNIP1. {ECO:0000250}.				aging (GO:0007568)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to starvation (GO:0009267)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA replication (GO:0006260)|DNA synthesis involved in DNA repair (GO:0000731)|double-strand break repair (GO:0006302)|multicellular organismal aging (GO:0010259)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleolus to nucleoplasm transport (GO:0032066)|positive regulation of hydrolase activity (GO:0051345)|regulation of apoptotic process (GO:0042981)|regulation of growth rate (GO:0040009)|replication fork processing (GO:0031297)|replicative cell aging (GO:0001302)|response to oxidative stress (GO:0006979)|response to UV-C (GO:0010225)|telomere maintenance (GO:0000723)	centrosome (GO:0005813)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	3'-5' DNA helicase activity (GO:0043138)|3'-5' exonuclease activity (GO:0008408)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|exonuclease activity (GO:0004527)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|Y-form DNA binding (GO:0000403)	p.L88F(1)		central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		GGCCACCATTATACAATAGAG	0.368			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome																												Ovarian(18;161 598 2706 14834 27543)	Ovarian(18;161 598 2706 14834 27543)	uc003xio.3		NA	yes	Rec		Werner Syndrome	8	8p12-p11.2	7486	Mis|N|F|S	Werner syndrome (RECQL2)			"""L, E, M, O"""		osteosarcoma|meningioma|others			1	Substitution - Missense(1)		lung(1)	ovary(2)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	7						c.(262-264)TTA>TTT	Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Werner syndrome protein							211.0	194.0	200.0					8																	30921859		2203	4300	6503	SO:0001583	missense	7486	Werner_syndrome	Familial Cancer Database	WS, Adult Progeria	base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding	g.chr8:30921859A>T		CCDS6082.1	8p12	2014-09-17	2009-03-19		ENSG00000165392	ENSG00000165392			12791	protein-coding gene	gene with protein product		604611	"""Werner syndrome"""			9288107	Standard	NM_000553		Approved	RECQL2, RECQ3	uc003xio.4	Q14191	OTTHUMG00000163894	ENST00000298139.5:c.264A>T	8.37:g.30921859A>T	ENSP00000298139:p.Leu88Phe						p.L88F	NM_000553	NP_000544	Q14191	WRN_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)	4	1052	+		Breast(100;0.195)	88	L->A: No effect on exonuclease activity.		Interaction with WRNIP1 (By similarity).|3'-5' exonuclease.		A1KYY9	Missense_Mutation	SNP	ENST00000298139.5	37	c.264A>T	CCDS6082.1	.	.	.	.	.	.	.	.	.	.	A	8.533	0.871513	0.17322	.	.	ENSG00000165392	ENST00000298139	T	0.70282	-0.47	5.7	-11.4	0.00090	-5&apos (2);Ribonuclease H-like (1); exonuclease (2);3&apos (2);	1.291060	0.05156	N	0.496883	T	0.36358	0.0964	N	0.02802	-0.49	0.09310	N	1	B	0.17465	0.022	B	0.10450	0.005	T	0.47459	-0.9116	10	0.59425	D	0.04	-0.8576	3.0376	0.06127	0.1499:0.2307:0.3917:0.2277	.	88	Q14191	WRN_HUMAN	F	88	ENSP00000298139:L88F	ENSP00000298139:L88F	L	+	3	2	WRN	31041401	0.000000	0.05858	0.000000	0.03702	0.285000	0.27093	-1.122000	0.03267	-3.184000	0.00221	-0.250000	0.11733	TTA		0.368	WRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376248.1			37	112	0	0	0	0.00874	0	37	112				
ADAM2	2515	broad.mit.edu	37	8	39607214	39607214	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr8:39607214C>A	ENST00000265708.4	-	17	1950	c.1847G>T	c.(1846-1848)tGt>tTt	p.C616F	ADAM2_ENST00000347580.4_Missense_Mutation_p.C597F|ADAM2_ENST00000521880.1_Missense_Mutation_p.C553F|ADAM2_ENST00000379853.2_Missense_Mutation_p.C460F	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	616	EGF-like.				adult behavior (GO:0030534)|binding of sperm to zona pellucida (GO:0007339)|cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|visual learning (GO:0008542)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.C616F(1)		haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		GTCAGTAGTACAATCATAACC	0.363																																							uc003xnj.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)	2						c.(1846-1848)TGT>TTT		ADAM metallopeptidase domain 2 proprotein							154.0	142.0	146.0					8																	39607214		2203	4300	6503	SO:0001583	missense	2515				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr8:39607214C>A	U52370	CCDS34884.1, CCDS64882.1, CCDS64883.1	8p11.2	2009-03-25	2008-07-31		ENSG00000104755	ENSG00000104755		"""ADAM metallopeptidase domain containing"""	198	protein-coding gene	gene with protein product	"""cancer/testis antigen 15"""	601533	"""fertilin beta"""	FTNB		8702389, 9070941	Standard	NM_001278113		Approved	PH-30b, PH30, CT15	uc003xnj.4	Q99965	OTTHUMG00000164041	ENST00000265708.4:c.1847G>T	8.37:g.39607214C>A	ENSP00000265708:p.Cys616Phe					ADAM2_uc003xnk.2_Missense_Mutation_p.C597F|ADAM2_uc011lck.1_Missense_Mutation_p.C553F|ADAM2_uc003xnl.2_Missense_Mutation_p.C460F	p.C616F	NM_001464	NP_001455	Q99965	ADAM2_HUMAN	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)	17	1922	-		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	616			Extracellular (Potential).|EGF-like.		P78326|Q9UQQ8	Missense_Mutation	SNP	ENST00000265708.4	37	c.1847G>T	CCDS34884.1	.	.	.	.	.	.	.	.	.	.	C	13.93	2.383964	0.42308	.	.	ENSG00000104755	ENST00000347580;ENST00000379853;ENST00000265708;ENST00000521880	D;D;D;T	0.85556	-2.0;-2.0;-2.0;4.8	4.21	4.21	0.49690	.	.	.	.	.	D	0.94525	0.8237	H	0.96175	3.78	0.09310	N	0.999997	B;D;D;D	0.89917	0.386;1.0;1.0;1.0	B;D;D;D	0.91635	0.246;0.997;0.999;0.998	D	0.87391	0.2363	9	0.72032	D	0.01	.	12.7857	0.57504	0.0:1.0:0.0:0.0	.	553;460;597;616	B4DWY7;Q6P2G0;Q99965-2;Q99965	.;.;.;ADAM2_HUMAN	F	597;460;616;553	ENSP00000343854:C597F;ENSP00000369182:C460F;ENSP00000265708:C616F;ENSP00000429352:C553F	ENSP00000265708:C616F	C	-	2	0	ADAM2	39726371	0.378000	0.25114	0.038000	0.18304	0.005000	0.04900	2.872000	0.48467	2.273000	0.75805	0.655000	0.94253	TGT		0.363	ADAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376926.1	NM_001464		11	33	1	0	2.68362e-12	0.001368	4.01561e-12	11	33				
AP3M2	10947	broad.mit.edu	37	8	42012412	42012412	+	Silent	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr8:42012412G>T	ENST00000518421.1	+	3	498	c.207G>T	c.(205-207)gtG>gtT	p.V69V	RP11-589C21.5_ENST00000564481.1_RNA|AP3M2_ENST00000174653.3_Silent_p.V69V|AP3M2_ENST00000396926.3_Silent_p.V69V|AP3M2_ENST00000520685.1_Intron|AP3M2_ENST00000517922.1_Silent_p.V69V	NM_001134296.1	NP_001127768.1	P53677	AP3M2_HUMAN	adaptor-related protein complex 3, mu 2 subunit	69					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|intracellular protein transport (GO:0006886)	AP-type membrane coat adaptor complex (GO:0030119)|clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)		p.V69V(1)		endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|prostate(1)|stomach(1)	17	all_cancers(6;8.14e-25)|all_epithelial(6;2.41e-27)|all_lung(13;5.09e-13)|Lung NSC(13;8.38e-12)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|Colorectal(10;0.00165)|OV - Ovarian serous cystadenocarcinoma(14;0.00346)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)			TTGTGGCCGTGATCCAGACGG	0.473																																							uc003xop.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(205-207)GTG>GTT		adaptor-related protein complex 3, mu 2 subunit							99.0	100.0	100.0					8																	42012412		2203	4300	6503	SO:0001819	synonymous_variant	10947				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|Golgi apparatus		g.chr8:42012412G>T	D38293	CCDS6125.1	8p11.2	2008-07-07			ENSG00000070718	ENSG00000070718			570	protein-coding gene	gene with protein product		610469				7601449	Standard	NM_006803		Approved	CLA20, AP47B	uc003xoo.3	P53677	OTTHUMG00000164060	ENST00000518421.1:c.207G>T	8.37:g.42012412G>T						AP3M2_uc003xoo.2_Silent_p.V69V|AP3M2_uc010lxe.2_RNA|AP3M2_uc003xoq.1_5'UTR|AP3M2_uc003xor.1_Silent_p.V69V	p.V69V	NM_001134296	NP_001127768	P53677	AP3M2_HUMAN	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|Colorectal(10;0.00165)|OV - Ovarian serous cystadenocarcinoma(14;0.00346)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		3	498	+	all_cancers(6;8.14e-25)|all_epithelial(6;2.41e-27)|all_lung(13;5.09e-13)|Lung NSC(13;8.38e-12)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	69					B2RCR0|D3DSY2|Q7Z472	Silent	SNP	ENST00000518421.1	37	c.207G>T	CCDS6125.1																																																																																				0.473	AP3M2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376996.1			9	46	1	0	0.000274275	0.004482	0.00030271	9	46				
MCM4	4173	broad.mit.edu	37	8	48878870	48878870	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr8:48878870G>T	ENST00000262105.2	+	8	1165	c.956G>T	c.(955-957)cGc>cTc	p.R319L	MCM4_ENST00000523944.1_Missense_Mutation_p.R319L	NM_005914.3	NP_005905.2	P33991	MCM4_HUMAN	minichromosome maintenance complex component 4	319					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|single-stranded DNA binding (GO:0003697)	p.R319L(1)		biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	44		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)				GAGATGGACCGCGGCCGCATT	0.622																																							uc003xqk.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)	4						c.(955-957)CGC>CTC		minichromosome maintenance complex component 4							68.0	59.0	63.0					8																	48878870		2203	4300	6503	SO:0001583	missense	4173				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding	g.chr8:48878870G>T		CCDS6143.1	8q12-q13	2008-02-05	2007-04-04		ENSG00000104738	ENSG00000104738			6947	protein-coding gene	gene with protein product		602638	"""MCM4 minichromosome maintenance deficient 4 (S. cerevisiae)"""	CDC21		7601140	Standard	NM_005914		Approved	CDC54, hCdc21, P1-Cdc21, MGC33310	uc003xql.2	P33991	OTTHUMG00000164205	ENST00000262105.2:c.956G>T	8.37:g.48878870G>T	ENSP00000262105:p.Arg319Leu					MCM4_uc003xql.1_Missense_Mutation_p.R319L|MCM4_uc011ldi.1_Missense_Mutation_p.R306L	p.R319L	NM_182746	NP_877423	P33991	MCM4_HUMAN			9	1051	+		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)	319					Q8NEH1|Q99658	Missense_Mutation	SNP	ENST00000262105.2	37	c.956G>T	CCDS6143.1	.	.	.	.	.	.	.	.	.	.	G	35	5.472467	0.96274	.	.	ENSG00000104738	ENST00000523944;ENST00000262105;ENST00000396826;ENST00000429229	T;T	0.04194	3.68;3.68	5.39	5.39	0.77823	Nucleic acid-binding, OB-fold-like (1);	0.000000	0.85682	D	0.000000	T	0.31979	0.0814	M	0.93241	3.395	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.68621	0.959;0.959	T	0.41016	-0.9532	10	0.87932	D	0	-10.0982	19.5113	0.95142	0.0:0.0:1.0:0.0	.	319;319	B3KMX0;P33991	.;MCM4_HUMAN	L	319;319;306;279	ENSP00000430194:R319L;ENSP00000262105:R319L	ENSP00000262105:R319L	R	+	2	0	MCM4	49041423	1.000000	0.71417	0.989000	0.46669	0.706000	0.40770	9.237000	0.95368	2.676000	0.91093	0.462000	0.41574	CGC		0.622	MCM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377791.1	NM_005914		7	28	1	0	1.6384e-10	0.001984	2.32239e-10	7	28				
SNAI2	6591	broad.mit.edu	37	8	49832627	49832627	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr8:49832627G>C	ENST00000396822.1	-	3	810	c.453C>G	c.(451-453)tgC>tgG	p.C151W	SNAI2_ENST00000020945.1_Missense_Mutation_p.C151W			O43623	SNAI2_HUMAN	snail family zinc finger 2	151					canonical Wnt signaling pathway (GO:0060070)|cartilage morphogenesis (GO:0060536)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to ionizing radiation (GO:0071479)|desmosome disassembly (GO:0035921)|embryo development (GO:0009790)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|epithelium development (GO:0060429)|negative regulation of anoikis (GO:2000811)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cell-cell adhesion by negative regulation of transcription from RNA polymerase II promoter (GO:1900387)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of stem cell proliferation (GO:2000647)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vitamin D biosynthetic process (GO:0010957)|negative regulation of vitamin D receptor signaling pathway (GO:0070563)|neural crest cell development (GO:0014032)|Notch signaling pathway (GO:0007219)|osteoblast differentiation (GO:0001649)|palate development (GO:0060021)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of histone acetylation (GO:0035066)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)|regulation of chemokine production (GO:0032642)|regulation of osteoblast differentiation (GO:0045667)|regulation of tight junction assembly (GO:2000810)|sensory perception of sound (GO:0007605)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)	p.C151W(1)|p.C151C(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)	18		all_cancers(86;0.0368)|all_epithelial(80;0.000624)|Lung NSC(129;0.0019)|all_lung(136;0.00502)				ACTGGGCATCGCAGTGCAGCT	0.453																																							uc003xqp.2		NA																	2	Substitution - Missense(1)|Substitution - coding silent(1)		lung(2)	ovary(2)	2						c.(451-453)TGC>TGG		snail 2							86.0	86.0	86.0					8																	49832627		2203	4300	6503	SO:0001583	missense	6591				canonical Wnt receptor signaling pathway|ectoderm and mesoderm interaction|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:49832627G>C	U97060	CCDS6146.1	8q11.21	2013-05-23	2013-05-23	2002-02-28	ENSG00000019549	ENSG00000019549		"""Snail homologs"", ""Zinc fingers, C2H2-type"""	11094	protein-coding gene	gene with protein product		602150	"""slug homolog, zinc finger protein (chicken)"", ""snail homolog 2 (Drosophila)"""	SLUG		9337409, 9721220	Standard	NM_003068		Approved	SLUGH1, SNAIL2	uc003xqp.3	O43623	OTTHUMG00000149912	ENST00000396822.1:c.453C>G	8.37:g.49832627G>C	ENSP00000380034:p.Cys151Trp						p.C151W	NM_003068	NP_003059	O43623	SNAI2_HUMAN			2	617	-		all_cancers(86;0.0368)|all_epithelial(80;0.000624)|Lung NSC(129;0.0019)|all_lung(136;0.00502)	151					B2R6P6|Q53FC1	Missense_Mutation	SNP	ENST00000396822.1	37	c.453C>G	CCDS6146.1	.	.	.	.	.	.	.	.	.	.	G	10.84	1.463151	0.26248	.	.	ENSG00000019549	ENST00000020945;ENST00000396822	T;T	0.54479	0.57;0.57	5.38	-4.32	0.03688	Zinc finger, C2H2 (1);	0.039715	0.85682	D	0.000000	T	0.47432	0.1445	L	0.48362	1.52	0.80722	D	1	B	0.32365	0.367	B	0.40410	0.328	T	0.40289	-0.9571	10	0.72032	D	0.01	-10.4265	14.0189	0.64541	0.4375:0.0:0.5625:0.0	.	151	O43623	SNAI2_HUMAN	W	151	ENSP00000020945:C151W;ENSP00000380034:C151W	ENSP00000020945:C151W	C	-	3	2	SNAI2	49995180	0.982000	0.34865	0.893000	0.35052	0.986000	0.74619	0.026000	0.13599	-1.354000	0.02188	-0.258000	0.10820	TGC		0.453	SNAI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313873.2	NM_003068		11	90	0	0	0	0.001368	0	11	90				
PXDNL	137902	broad.mit.edu	37	8	52370125	52370125	+	Nonsense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr8:52370125G>T	ENST00000356297.4	-	9	1015	c.915C>A	c.(913-915)tgC>tgA	p.C305*	PXDNL_ENST00000543296.1_Nonsense_Mutation_p.C305*	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	305	Ig-like C2-type 1.				hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	endonuclease activity (GO:0004519)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)	p.C305*(1)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				TTCTGGCCATGCACTGATAGA	0.428																																							uc003xqu.3		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(913-915)TGC>TGA		peroxidasin homolog-like precursor							141.0	141.0	141.0					8																	52370125		1957	4155	6112	SO:0001587	stop_gained	137902				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	g.chr8:52370125G>T		CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"""Immunoglobulin superfamily / I-set domain containing"""	26359	protein-coding gene	gene with protein product	"""polysomal ribonuclease 1 homolog (Xenopus)"""	615904	"""peroxidasin homolog-like (Drosophila)"""			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.915C>A	8.37:g.52370125G>T	ENSP00000348645:p.Cys305*						p.C305*	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN			9	1016	-		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)	305			Ig-like C2-type 1.		B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Nonsense_Mutation	SNP	ENST00000356297.4	37	c.915C>A	CCDS47855.1	.	.	.	.	.	.	.	.	.	.	G	34	5.304980	0.95601	.	.	ENSG00000147485	ENST00000356297;ENST00000543296	.	.	.	3.71	-3.23	0.05109	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.675	0.34174	0.7696:0.0:0.2304:0.0	.	.	.	.	X	305	.	ENSP00000348645:C305X	C	-	3	2	PXDNL	52532678	1.000000	0.71417	0.000000	0.03702	0.965000	0.64279	0.662000	0.25038	-0.638000	0.05509	-0.378000	0.06908	TGC		0.428	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	NM_144651		19	86	1	0	8.28177e-16	0.007413	1.35641e-15	19	86				
RP1	6101	broad.mit.edu	37	8	55534687	55534687	+	Missense_Mutation	SNP	T	T	G			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr8:55534687T>G	ENST00000220676.1	+	3	774	c.626T>G	c.(625-627)cTc>cGc	p.L209R		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	209	Doublecortin 2. {ECO:0000255|PROSITE- ProRule:PRU00072}.				axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)	p.L19R(1)|p.L209R(1)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GTTCCCAGCCTCCAGGCAGTG	0.428																																					Colon(91;1014 1389 7634 14542 40420)	Colon(91;1014 1389 7634 14542 40420)	uc003xsd.1		NA																	2	Substitution - Missense(2)		lung(2)	skin(7)|ovary(4)|pancreas(1)	12						c.(625-627)CTC>CGC		retinitis pigmentosa RP1 protein							54.0	54.0	54.0					8																	55534687		2203	4300	6503	SO:0001583	missense	6101				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	g.chr8:55534687T>G	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.626T>G	8.37:g.55534687T>G	ENSP00000220676:p.Leu209Arg					RP1_uc011ldy.1_Missense_Mutation_p.L209R	p.L209R	NM_006269	NP_006260	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		3	774	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	209			Doublecortin 2.			Missense_Mutation	SNP	ENST00000220676.1	37	c.626T>G	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	T	22.5	4.297516	0.81025	.	.	ENSG00000104237	ENST00000427058;ENST00000220676	D	0.95272	-3.66	5.55	5.55	0.83447	Doublecortin domain (5);	0.000000	0.51477	D	0.000098	D	0.97387	0.9145	M	0.86028	2.79	0.49130	D	0.999755	D;D	0.89917	1.0;1.0	D;D	0.87578	0.995;0.998	D	0.98096	1.0412	10	0.72032	D	0.01	.	15.71	0.77620	0.0:0.0:0.0:1.0	.	19;209	E7EVW9;P56715	.;RP1_HUMAN	R	19;209	ENSP00000220676:L209R	ENSP00000220676:L209R	L	+	2	0	RP1	55697240	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.671000	0.83941	2.105000	0.64084	0.533000	0.62120	CTC		0.428	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		8	31	0	0	0	0.006214	0	8	31				
DNAJC5B	85479	broad.mit.edu	37	8	66963823	66963823	+	Nonsense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr8:66963823C>A	ENST00000276570.5	+	3	328	c.41C>A	c.(40-42)tCa>tAa	p.S14*	DNAJC5B_ENST00000519330.1_3'UTR	NM_033105.4	NP_149096.2	Q9UF47	DNJ5B_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5 beta	14						membrane (GO:0016020)		p.S14*(1)		endometrium(3)|large_intestine(6)|liver(1)|lung(6)|prostate(1)|skin(3)	20		Lung NSC(129;0.114)|all_lung(136;0.188)	Epithelial(68;0.0213)|all cancers(69;0.0839)|BRCA - Breast invasive adenocarcinoma(89;0.0886)|OV - Ovarian serous cystadenocarcinoma(28;0.112)			CGGACTCTGTCAACAACAGGA	0.403																																							uc003xvs.1		NA																	1	Substitution - Nonsense(1)		lung(1)		0						c.(40-42)TCA>TAA		DnaJ (Hsp40) homolog, subfamily C, member 5							136.0	125.0	129.0					8																	66963823		2203	4300	6503	SO:0001587	stop_gained	85479				protein folding	membrane	heat shock protein binding|unfolded protein binding	g.chr8:66963823C>A	AF368276	CCDS6183.1	8q13.1	2012-10-02			ENSG00000147570	ENSG00000147570		"""Heat shock proteins / DNAJ (HSP40)"""	24138	protein-coding gene	gene with protein product		613945				12477932	Standard	NM_033105		Approved	MGC26226, CSP-beta	uc003xvs.1	Q9UF47	OTTHUMG00000164470	ENST00000276570.5:c.41C>A	8.37:g.66963823C>A	ENSP00000276570:p.Ser14*					DNAJC5B_uc003xvt.1_RNA	p.S14*	NM_033105	NP_149096	Q9UF47	DNJ5B_HUMAN	Epithelial(68;0.0213)|all cancers(69;0.0839)|BRCA - Breast invasive adenocarcinoma(89;0.0886)|OV - Ovarian serous cystadenocarcinoma(28;0.112)		3	332	+		Lung NSC(129;0.114)|all_lung(136;0.188)	14					Q969Y8	Nonsense_Mutation	SNP	ENST00000276570.5	37	c.41C>A	CCDS6183.1	.	.	.	.	.	.	.	.	.	.	C	39	7.475933	0.98309	.	.	ENSG00000147570	ENST00000276570;ENST00000522619	.	.	.	5.88	5.88	0.94601	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.0067	0.89211	0.0:1.0:0.0:0.0	.	.	.	.	X	14	.	ENSP00000276570:S14X	S	+	2	0	DNAJC5B	67126377	0.999000	0.42202	1.000000	0.80357	0.939000	0.58152	5.004000	0.63966	2.791000	0.96007	0.563000	0.77884	TCA		0.403	DNAJC5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378915.1	NM_033105		31	101	1	0	6.38683e-12	0.008361	9.45992e-12	31	101				
CSPP1	79848	broad.mit.edu	37	8	68024301	68024301	+	Splice_Site	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr8:68024301G>T	ENST00000262210.5	+	9	1245		c.e9+1		CSPP1_ENST00000412460.1_Splice_Site	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1						positive regulation of cell division (GO:0051781)|positive regulation of cytokinesis (GO:0032467)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|spindle (GO:0005819)|spindle pole (GO:0000922)		p.?(1)		NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			ACAAGAGACGGTAATGAAAGG	0.353																																							uc003xxi.2		NA																	1	Unknown(1)		lung(1)	ovary(3)|breast(2)	5						c.e11+1		centrosome spindle pole associated protein 1							131.0	130.0	130.0					8																	68024301		1864	4102	5966	SO:0001630	splice_region_variant	79848					centrosome|microtubule|spindle		g.chr8:68024301G>T	AJ583433	CCDS43744.1	8q13.2	2014-02-24			ENSG00000104218	ENSG00000104218			26193	protein-coding gene	gene with protein product		611654				15580290, 24360807	Standard	NM_024790		Approved	FLJ22490, CSPP, JBTS21	uc003xxj.3	Q1MSJ5	OTTHUMG00000164564	ENST00000262210.5:c.1214+1G>T	8.37:g.68024301G>T						CSPP1_uc003xxg.1_Splice_Site_p.R432_splice|CSPP1_uc003xxh.1_RNA|CSPP1_uc003xxj.2_Splice_Site_p.R405_splice|CSPP1_uc003xxk.2_Splice_Site_p.R111_splice	p.R440_splice	NM_001077204	NP_001070672	Q1MSJ5	CSPP1_HUMAN	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)		11	1350	+	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)						A6ND63|Q70F00|Q8TBC1	Splice_Site	SNP	ENST00000262210.5	37	c.1319_splice	CCDS43744.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.196896	0.79015	.	.	ENSG00000104218	ENST00000262210;ENST00000389042;ENST00000412460;ENST00000519668	.	.	.	5.16	5.16	0.70880	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.4149	0.87497	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CSPP1	68186855	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.130000	0.77235	2.411000	0.81874	0.491000	0.48974	.		0.353	CSPP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379254.1	NM_024790	Intron	19	45	1	0	7.45023e-12	0.010504	1.10031e-11	19	45				
ZFHX4	79776	broad.mit.edu	37	8	77768313	77768313	+	Silent	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr8:77768313G>T	ENST00000521891.2	+	10	9604	c.9156G>T	c.(9154-9156)ccG>ccT	p.P3052P	ZFHX4_ENST00000518282.1_Silent_p.P3026P|ZFHX4_ENST00000455469.2_Silent_p.P3007P|ZFHX4_ENST00000050961.6_Silent_p.P3007P	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	3007	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.P3036P(2)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			ACTTGGCTCCGACCACGGTTC	0.507										HNSCC(33;0.089)																													uc003yav.2		NA																	2	Substitution - coding silent(2)		large_intestine(1)|lung(1)	ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(9019-9021)CCG>CCT		zinc finger homeodomain 4							102.0	102.0	102.0					8																	77768313		2006	4172	6178	SO:0001819	synonymous_variant	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77768313G>T		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.9156G>T	8.37:g.77768313G>T		HNSCC(33;0.089)				ZFHX4_uc003yau.1_Silent_p.P3052P|ZFHX4_uc003yaw.1_Silent_p.P3007P	p.P3007P	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		10	9408	+			3007					G3V138|Q18PS0|Q6ZN20	Silent	SNP	ENST00000521891.2	37	c.9021G>T	CCDS47878.2																																																																																				0.507	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		17	83	1	0	1.00905e-13	0.008871	1.58167e-13	17	83				
ZFAND1	79752	broad.mit.edu	37	8	82627319	82627319	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr8:82627319C>A	ENST00000220669.5	-	4	187	c.169G>T	c.(169-171)Gat>Tat	p.D57Y	ZFAND1_ENST00000517588.1_5'UTR|ZFAND1_ENST00000521287.1_5'UTR|ZFAND1_ENST00000522520.1_5'UTR|ZFAND1_ENST00000519523.1_Missense_Mutation_p.D57Y|ZFAND1_ENST00000523096.1_Missense_Mutation_p.D57Y|ZFAND1_ENST00000521895.1_5'UTR	NM_024699.2	NP_078975.2	Q8TCF1	ZFAN1_HUMAN	zinc finger, AN1-type domain 1	57							zinc ion binding (GO:0008270)	p.D57Y(1)		kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13						GTATGTTGATCTGTCTTCAGT	0.368																																							uc003ycj.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(169-171)GAT>TAT		zinc finger, AN1-type domain 1							124.0	114.0	117.0					8																	82627319		2203	4300	6503	SO:0001583	missense	79752						zinc ion binding	g.chr8:82627319C>A		CCDS6232.1, CCDS55250.1, CCDS55251.1	8q21.13	2006-07-07						"""Zinc fingers, AN1-type domain containing"""	25858	protein-coding gene	gene with protein product						12477932	Standard	NM_024699		Approved	FLJ14007	uc003ycj.2	Q8TCF1		ENST00000220669.5:c.169G>T	8.37:g.82627319C>A	ENSP00000220669:p.Asp57Tyr					ZFAND1_uc010lzx.1_Missense_Mutation_p.D57Y|ZFAND1_uc003yck.1_5'UTR	p.D57Y	NM_024699	NP_078975	Q8TCF1	ZFAN1_HUMAN			4	183	-			57			AN1-type 1.		E5RIG0|E5RJ99|Q658R7|Q6IA32|Q6PGQ6|Q9H810	Missense_Mutation	SNP	ENST00000220669.5	37	c.169G>T	CCDS6232.1	.	.	.	.	.	.	.	.	.	.	C	18.94	3.730622	0.69074	.	.	ENSG00000104231	ENST00000523096;ENST00000220669;ENST00000519523	T	0.41400	1.0	5.85	4.98	0.66077	Zinc finger, AN1-type (2);	0.405154	0.27096	N	0.020943	T	0.54695	0.1874	M	0.79123	2.44	0.36759	D	0.883194	D;D	0.57899	0.958;0.981	P;P	0.50231	0.558;0.635	T	0.67035	-0.5772	9	.	.	.	.	14.5133	0.67802	0.0:0.9292:0.0:0.0708	.	57;57	E5RIG0;Q8TCF1	.;ZFAN1_HUMAN	Y	57	ENSP00000429167:D57Y	.	D	-	1	0	ZFAND1	82789874	0.978000	0.34361	0.942000	0.38095	0.733000	0.41908	4.264000	0.58859	1.480000	0.48289	0.655000	0.94253	GAT		0.368	ZFAND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379739.1	NM_024699		10	40	1	0	6.40141e-05	0.000978	7.26916e-05	10	40				
CA3	761	broad.mit.edu	37	8	86356318	86356318	+	Missense_Mutation	SNP	A	A	C			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr8:86356318A>C	ENST00000285381.2	+	4	490	c.407A>C	c.(406-408)cAg>cCg	p.Q136P	RP11-317J10.2_ENST00000517697.1_RNA|RP11-317J10.2_ENST00000521761.1_RNA	NM_005181.3	NP_005172.1	P07451	CAH3_HUMAN	carbonic anhydrase III, muscle specific	136					bicarbonate transport (GO:0015701)|one-carbon metabolic process (GO:0006730)|response to ethanol (GO:0045471)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	carbonate dehydratase activity (GO:0004089)|nickel cation binding (GO:0016151)|zinc ion binding (GO:0008270)	p.Q136P(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23					Acetazolamide(DB00819)|Zonisamide(DB00909)	GCCCTGAAGCAGCGCGATGGG	0.378																																							uc003ydj.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(406-408)CAG>CCG		carbonic anhydrase III							73.0	72.0	72.0					8																	86356318		2203	4300	6503	SO:0001583	missense	761				one-carbon metabolic process	cytoplasm	carbonate dehydratase activity|zinc ion binding	g.chr8:86356318A>C	AJ006473	CCDS6238.1	8q21.2	2012-10-02					4.2.1.1	"""Carbonic anhydrases"""	1374	protein-coding gene	gene with protein product		114750				6221502	Standard	NM_005181		Approved	Car3, CAIII	uc003ydj.3	P07451		ENST00000285381.2:c.407A>C	8.37:g.86356318A>C	ENSP00000285381:p.Gln136Pro					CA3_uc011lfv.1_RNA	p.Q136P	NM_005181	NP_005172	P07451	CAH3_HUMAN			4	490	+			136					B2R867|B3KUC8|O60842	Missense_Mutation	SNP	ENST00000285381.2	37	c.407A>C	CCDS6238.1	.	.	.	.	.	.	.	.	.	.	A	16.13	3.037324	0.54896	.	.	ENSG00000164879	ENST00000285381;ENST00000426378	T	0.67865	-0.29	6.17	6.17	0.99709	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.297146	0.42821	D	0.000641	T	0.72946	0.3524	M	0.73372	2.23	0.44162	D	0.996965	P	0.37276	0.589	P	0.46479	0.518	T	0.75028	-0.3462	10	0.59425	D	0.04	-7.1386	11.8064	0.52158	0.9306:0.0:0.0694:0.0	.	136	P07451	CAH3_HUMAN	P	136;120	ENSP00000285381:Q136P	ENSP00000285381:Q136P	Q	+	2	0	CA3	86543570	0.850000	0.29656	0.941000	0.38009	0.943000	0.58893	3.341000	0.52151	2.371000	0.80710	0.533000	0.62120	CAG		0.378	CA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381090.1	NM_005181		8	45	0	0	0	0.00308	0	8	45				
NECAB1	64168	broad.mit.edu	37	8	91963412	91963412	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr8:91963412C>T	ENST00000417640.2	+	12	1347	c.1010C>T	c.(1009-1011)aCa>aTa	p.T337I	NECAB1_ENST00000522820.1_Missense_Mutation_p.T86I|NECAB1_ENST00000521366.1_Missense_Mutation_p.T86I	NM_022351.4	NP_071746.1	Q8N987	NECA1_HUMAN	N-terminal EF-hand calcium binding protein 1	337	ABM.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.T337I(1)		breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)	12			BRCA - Breast invasive adenocarcinoma(11;0.0499)			CCAGAACTCACATCTACAATG	0.343																																							uc011lgg.1		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(1009-1011)ACA>ATA		N-terminal EF-hand calcium binding protein 1							84.0	83.0	83.0					8																	91963412		1842	4087	5929	SO:0001583	missense	64168				antibiotic biosynthetic process	cytoplasm	calcium ion binding|oxidoreductase activity	g.chr8:91963412C>T	AF414126	CCDS47889.1	8q21.3	2013-01-10	2007-12-06	2007-12-06	ENSG00000123119	ENSG00000123119		"""N-terminal EF-hand calcium binding proteins"", ""EF-hand domain containing"""	20983	protein-coding gene	gene with protein product			"""EF-hand calcium binding protein 1"""	EFCBP1			Standard	NM_022351		Approved		uc011lgg.2	Q8N987	OTTHUMG00000164009	ENST00000417640.2:c.1010C>T	8.37:g.91963412C>T	ENSP00000387380:p.Thr337Ile					NECAB1_uc003yer.2_Missense_Mutation_p.T86I	p.T337I	NM_022351	NP_071746	Q8N987	NECA1_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0499)		12	1204	+			337					Q6NUS7|Q96AZ7|Q9HBW8	Missense_Mutation	SNP	ENST00000417640.2	37	c.1010C>T	CCDS47889.1	.	.	.	.	.	.	.	.	.	.	C	13.53	2.264731	0.40095	.	.	ENSG00000123119	ENST00000417640;ENST00000522820;ENST00000521366	T;T;T	0.27720	2.4;1.65;1.65	5.41	2.62	0.31277	Dimeric alpha-beta barrel (1);	0.363781	0.33290	N	0.005062	T	0.10465	0.0256	N	0.02011	-0.69	0.29247	N	0.872279	B	0.02656	0.0	B	0.01281	0.0	T	0.12656	-1.0539	10	0.34782	T	0.22	-39.9775	6.3806	0.21531	0.0:0.5666:0.0:0.4334	.	337	Q8N987	NECA1_HUMAN	I	337;86;86	ENSP00000387380:T337I;ENSP00000428953:T86I;ENSP00000428632:T86I	ENSP00000387380:T337I	T	+	2	0	NECAB1	92032588	0.980000	0.34600	1.000000	0.80357	0.994000	0.84299	1.245000	0.32790	0.648000	0.30732	0.467000	0.42956	ACA		0.343	NECAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376728.1	NM_022351		6	29	0	0	0	0.00308	0	6	29				
CDH17	1015	broad.mit.edu	37	8	95158253	95158253	+	Silent	SNP	A	A	G			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr8:95158253A>G	ENST00000027335.3	-	15	2194	c.2070T>C	c.(2068-2070)gcT>gcC	p.A690A	CDH17_ENST00000450165.2_Silent_p.A690A|CDH17_ENST00000441892.2_Silent_p.A476A	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	690	Cadherin 7. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|oligopeptide transmembrane transport (GO:0035672)|oligopeptide transport (GO:0006857)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|proton-dependent oligopeptide secondary active transmembrane transporter activity (GO:0005427)|transporter activity (GO:0005215)	p.A690A(1)		NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			CATCATCAGTAGCCTCGAAAA	0.483																																							uc003ygh.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(5)|skin(1)	6						c.(2068-2070)GCT>GCC		cadherin 17 precursor							104.0	93.0	97.0					8																	95158253		2203	4300	6503	SO:0001819	synonymous_variant	1015					integral to membrane	calcium ion binding	g.chr8:95158253A>G	X83228	CCDS6260.1	8q22.1	2010-01-26			ENSG00000079112	ENSG00000079112		"""Cadherins / Major cadherins"""	1756	protein-coding gene	gene with protein product		603017				9615235, 10191097	Standard	NM_004063		Approved	HPT-1, cadherin	uc003ygh.2	Q12864	OTTHUMG00000164391	ENST00000027335.3:c.2070T>C	8.37:g.95158253A>G						CDH17_uc011lgo.1_Silent_p.A476A|CDH17_uc011lgp.1_Silent_p.A690A	p.A690A	NM_004063	NP_004054	Q12864	CAD17_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00691)		15	2195	-	Breast(36;4.65e-06)		690			Cadherin 7.|Extracellular (Potential).		Q15336|Q2M2E0	Silent	SNP	ENST00000027335.3	37	c.2070T>C	CCDS6260.1																																																																																				0.483	CDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378560.1	NM_004063		12	53	0	0	0	0.001368	0	12	53				
C8orf37	157657	broad.mit.edu	37	8	96259924	96259924	+	Missense_Mutation	SNP	T	T	A	rs387907137		TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr8:96259924T>A	ENST00000286688.5	-	6	556	c.545A>T	c.(544-546)cAg>cTg	p.Q182L		NM_177965.3	NP_808880.1	Q96NL8	CH037_HUMAN	chromosome 8 open reading frame 37	182			Q -> R (in RP64). {ECO:0000269|PubMed:22177090}.			cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)		p.Q182L(1)		kidney(1)|large_intestine(1)|lung(5)	7	Breast(36;3.41e-05)					CCAGCTACACTGGCAGGCATA	0.403																																							uc003yho.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(544-546)CAG>CTG		hypothetical protein LOC157657							182.0	163.0	169.0					8																	96259924		2203	4300	6503	SO:0001583	missense	157657							g.chr8:96259924T>A	AK055162	CCDS6268.1	8q22.1	2014-01-28			ENSG00000156172	ENSG00000156172			27232	protein-coding gene	gene with protein product		614477				22177090	Standard	NM_177965		Approved	FLJ30600, CORD16, RP64	uc003yho.2	Q96NL8	OTTHUMG00000164663	ENST00000286688.5:c.545A>T	8.37:g.96259924T>A	ENSP00000286688:p.Gln182Leu						p.Q182L	NM_177965	NP_808880	Q96NL8	CH037_HUMAN			6	565	-	Breast(36;3.41e-05)		182						Missense_Mutation	SNP	ENST00000286688.5	37	c.545A>T	CCDS6268.1	.	.	.	.	.	.	.	.	.	.	T	26.9	4.783333	0.90282	.	.	ENSG00000156172	ENST00000286688	D	0.90261	-2.64	5.42	5.42	0.78866	.	0.135007	0.52532	D	0.000078	D	0.95626	0.8578	M	0.85462	2.755	0.52099	D	0.999945	D	0.89917	1.0	D	0.91635	0.999	D	0.96291	0.9214	10	0.87932	D	0	-16.0133	15.4627	0.75373	0.0:0.0:0.0:1.0	.	182	Q96NL8	CH037_HUMAN	L	182	ENSP00000286688:Q182L	ENSP00000286688:Q182L	Q	-	2	0	C8orf37	96329100	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.361000	0.79497	2.068000	0.61886	0.459000	0.35465	CAG		0.403	C8orf37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379672.1	NM_177965		9	49	0	0	0	0.004482	0	9	49				
GDF6	392255	broad.mit.edu	37	8	97156857	97156857	+	Missense_Mutation	SNP	G	G	T	rs138730867		TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr8:97156857G>T	ENST00000287020.5	-	2	1401	c.1302C>A	c.(1300-1302)gaC>gaA	p.D434E		NM_001001557.2	NP_001001557.1	Q6KF10	GDF6_HUMAN	growth differentiation factor 6	434					activin receptor signaling pathway (GO:0032924)|apoptotic process (GO:0006915)|BMP signaling pathway (GO:0030509)|growth (GO:0040007)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription, DNA-templated (GO:0045893)|retinal cell apoptotic process (GO:1990009)	extracellular space (GO:0005615)		p.D434E(1)		breast(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27	Breast(36;2.67e-05)					TATTGCCCGCGTCGATGTATA	0.602																																							uc003yhp.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)|pancreas(1)	3						c.(1300-1302)GAC>GAA		growth differentiation factor 6 precursor							53.0	59.0	57.0					8																	97156857		2203	4300	6503	SO:0001583	missense	392255				activin receptor signaling pathway|BMP signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity	g.chr8:97156857G>T		CCDS34926.1	8q22.1	2014-01-29			ENSG00000156466	ENSG00000156466			4221	protein-coding gene	gene with protein product		601147	"""segmentation syndrome 1"""	SGM1		10022976, 18425797	Standard	NM_001001557		Approved	BMP13, KFS, KFS1	uc003yhp.3	Q6KF10	OTTHUMG00000164710	ENST00000287020.5:c.1302C>A	8.37:g.97156857G>T	ENSP00000287020:p.Asp434Glu						p.D434E	NM_001001557	NP_001001557	Q6KF10	GDF6_HUMAN			2	1402	-	Breast(36;2.67e-05)		434					Q6PI58	Missense_Mutation	SNP	ENST00000287020.5	37	c.1302C>A	CCDS34926.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.2|20.2	3.943098|3.943098	0.73672|0.73672	.|.	.|.	ENSG00000156466|ENSG00000156466	ENST00000287020|ENST00000435084	D|.	0.84873|.	-1.91|.	5.09|5.09	2.3|2.3	0.28687|0.28687	Transforming growth factor-beta, C-terminal (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.47948|0.47948	0.1473|0.1473	L|L	0.40543|0.40543	1.245|1.245	0.46149|0.46149	D|D	0.998891|0.998891	D|.	0.89917|.	1.0|.	D|.	0.91635|.	0.999|.	T|T	0.43147|0.43147	-0.9409|-0.9409	10|6	0.87932|0.87932	D|D	0|0	.|.	5.5916|5.5916	0.17303|0.17303	0.2185:0.0:0.6436:0.1379|0.2185:0.0:0.6436:0.1379	.|.	434|.	Q6KF10|.	GDF6_HUMAN|.	E|S	434|351	ENSP00000287020:D434E|.	ENSP00000287020:D434E|ENSP00000412749:R351S	D|R	-|-	3|1	2|0	GDF6|GDF6	97226033|97226033	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	2.351000|2.351000	0.44071|0.44071	0.304000|0.304000	0.22809|0.22809	0.650000|0.650000	0.86243|0.86243	GAC|CGC		0.602	GDF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379862.2	NM_001001557		9	23	1	0	1.58986e-06	0.008291	1.93433e-06	9	23				
UBR5	51366	broad.mit.edu	37	8	103359295	103359295	+	Nonsense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr8:103359295C>A	ENST00000520539.1	-	6	1018	c.412G>T	c.(412-414)Gga>Tga	p.G138*	UBR5_ENST00000521922.1_Nonsense_Mutation_p.G138*|UBR5_ENST00000220959.4_Nonsense_Mutation_p.G138*	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	138					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)	p.G138*(2)		NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			CCACCACTTCCACCCACTCCA	0.453																																					Ovarian(131;96 1741 5634 7352 27489)	Ovarian(131;96 1741 5634 7352 27489)	uc003ykr.1		NA																	2	Substitution - Nonsense(2)		lung(1)|skin(1)	lung(16)|ovary(4)|large_intestine(3)|breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	28						c.(412-414)GGA>TGA		ubiquitin protein ligase E3 component n-recognin							99.0	109.0	105.0					8																	103359295		2203	4300	6503	SO:0001587	stop_gained	51366				cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding	g.chr8:103359295C>A	AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"""Ubiquitin protein ligase E3 component n-recognins"""	16806	protein-coding gene	gene with protein product		608413	"""E3 ubiquitin protein ligase, HECT domain containing, 1"""	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.412G>T	8.37:g.103359295C>A	ENSP00000429084:p.Gly138*					UBR5_uc003yks.1_Nonsense_Mutation_p.G138*	p.G138*	NM_015902	NP_056986	O95071	UBR5_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000442)		6	445	-	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		138					B2RP24|J3KMW7|O94970|Q9NPL3	Nonsense_Mutation	SNP	ENST00000520539.1	37	c.412G>T	CCDS34933.1	.	.	.	.	.	.	.	.	.	.	C	43	10.427897	0.99403	.	.	ENSG00000104517	ENST00000520539;ENST00000220959;ENST00000521922	.	.	.	5.66	5.66	0.87406	.	0.062598	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	.	20.1253	0.97977	0.0:1.0:0.0:0.0	.	.	.	.	X	138	.	ENSP00000220959:G138X	G	-	1	0	UBR5	103428471	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	5.703000	0.68340	2.832000	0.97577	0.655000	0.94253	GGA		0.453	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2	NM_015902		60	87	1	0	4.49795e-14	0.00361	7.12698e-14	60	87				
PKHD1L1	93035	broad.mit.edu	37	8	110408305	110408305	+	Silent	SNP	G	G	T	rs372636340		TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr8:110408305G>T	ENST00000378402.5	+	11	965	c.861G>T	c.(859-861)acG>acT	p.T287T		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	287	IPT/TIG 3.				immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.T289T(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GTGGCACCACGCTGACAATAA	0.393										HNSCC(38;0.096)																													uc003yne.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14						c.(859-861)ACG>ACT		fibrocystin L precursor							69.0	63.0	65.0					8																	110408305		2014	4197	6211	SO:0001819	synonymous_variant	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110408305G>T	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.861G>T	8.37:g.110408305G>T		HNSCC(38;0.096)					p.T287T	NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		11	965	+			287			Extracellular (Potential).|IPT/TIG 3.		Q567P2|Q9UF27	Silent	SNP	ENST00000378402.5	37	c.861G>T	CCDS47911.1																																																																																				0.393	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		4	17	1	0	5.9392e-07	0.001168	7.33962e-07	4	17				
PKHD1L1	93035	broad.mit.edu	37	8	110453508	110453508	+	Silent	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr8:110453508C>A	ENST00000378402.5	+	34	4208	c.4104C>A	c.(4102-4104)tcC>tcA	p.S1368S		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1368	IPT/TIG 7.				immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.S1370S(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TTCTAGGGTCCATCCCTTGCA	0.303										HNSCC(38;0.096)																													uc003yne.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14						c.(4102-4104)TCC>TCA		fibrocystin L precursor							46.0	44.0	45.0					8																	110453508		1802	4061	5863	SO:0001819	synonymous_variant	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110453508C>A	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.4104C>A	8.37:g.110453508C>A		HNSCC(38;0.096)					p.S1368S	NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		34	4208	+			1368			Extracellular (Potential).|IPT/TIG 7.		Q567P2|Q9UF27	Silent	SNP	ENST00000378402.5	37	c.4104C>A	CCDS47911.1																																																																																				0.303	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		3	11	1	0	0.00024832	0.009096	0.000275552	3	11				
CSMD3	114788	broad.mit.edu	37	8	113326281	113326281	+	Splice_Site	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr8:113326281C>A	ENST00000297405.5	-	49	7794	c.7550G>T	c.(7549-7551)gGa>gTa	p.G2517V	CSMD3_ENST00000343508.3_Splice_Site_p.G2477V|CSMD3_ENST00000455883.2_Splice_Site_p.G2413V|CSMD3_ENST00000352409.3_Splice_Site_p.G2447V	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2517	CUB 14. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.G2517V(1)|p.G2477V(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AATATTTGGTCCTTTGGGAAG	0.284										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																													uc003ynu.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(7549-7551)GGA>GTA		CUB and Sushi multiple domains 3 isoform 1							53.0	55.0	54.0					8																	113326281		2203	4299	6502	SO:0001630	splice_region_variant	114788					integral to membrane|plasma membrane		g.chr8:113326281C>A	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.7550-1G>T	8.37:g.113326281C>A		HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Missense_Mutation_p.G1719V|CSMD3_uc003ynt.2_Missense_Mutation_p.G2477V|CSMD3_uc011lhx.1_Missense_Mutation_p.G2413V|CSMD3_uc003ynw.1_Missense_Mutation_p.G228V	p.G2517V	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			49	7709	-			2517			CUB 14.|Extracellular (Potential).		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.7550G>T	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.401455	0.83120	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.27104	1.69;1.69;1.69;1.69;1.69	5.18	5.18	0.71444	CUB (5);	0.000000	0.64402	D	0.000001	T	0.68613	0.3020	H	0.97783	4.075	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.982	D;D;P	0.97110	1.0;1.0;0.767	T	0.81462	-0.0922	10	0.56958	D	0.05	.	18.6784	0.91537	0.0:1.0:0.0:0.0	.	2413;2517;2477	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	V	2477;2517;1787;2413;2447	ENSP00000345799:G2477V;ENSP00000297405:G2517V;ENSP00000341558:G1787V;ENSP00000412263:G2413V;ENSP00000343124:G2447V	ENSP00000297405:G2517V	G	-	2	0	CSMD3	113395457	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	6.000000	0.70678	2.382000	0.81193	0.579000	0.79373	GGA		0.284	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900	Missense_Mutation	11	15	1	0	0.000673444	0.008291	0.000736895	11	15				
CSMD3	114788	broad.mit.edu	37	8	113516078	113516078	+	Missense_Mutation	SNP	T	T	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr8:113516078T>A	ENST00000297405.5	-	30	5268	c.5024A>T	c.(5023-5025)cAt>cTt	p.H1675L	CSMD3_ENST00000343508.3_Missense_Mutation_p.H1635L|CSMD3_ENST00000455883.2_Missense_Mutation_p.H1571L|CSMD3_ENST00000352409.3_Missense_Mutation_p.H1675L	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1675	CUB 9. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.H1675L(1)|p.H1635L(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AAAAGCCAAATGCATTGTATT	0.353										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																													uc003ynu.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(5023-5025)CAT>CTT		CUB and Sushi multiple domains 3 isoform 1							172.0	155.0	161.0					8																	113516078		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113516078T>A	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.5024A>T	8.37:g.113516078T>A	ENSP00000297405:p.His1675Leu	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Missense_Mutation_p.H947L|CSMD3_uc003ynt.2_Missense_Mutation_p.H1635L|CSMD3_uc011lhx.1_Missense_Mutation_p.H1571L	p.H1675L	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			30	5183	-			1675			Extracellular (Potential).|CUB 9.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.5024A>T	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	T	9.061	0.994481	0.19043	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.17528	2.27;2.27;2.27;2.27;2.27	5.08	5.08	0.68730	CUB (5);	0.147323	0.46442	D	0.000298	T	0.08223	0.0205	N	0.03115	-0.41	0.28931	N	0.891588	B;B;B	0.28713	0.001;0.001;0.22	B;B;B	0.29524	0.005;0.009;0.103	T	0.18871	-1.0323	10	0.13470	T	0.59	.	15.0111	0.71550	0.0:0.0:0.0:1.0	.	1571;1675;1635	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	L	1635;1675;1015;1571;1675	ENSP00000345799:H1635L;ENSP00000297405:H1675L;ENSP00000341558:H1015L;ENSP00000412263:H1571L;ENSP00000343124:H1675L	ENSP00000297405:H1675L	H	-	2	0	CSMD3	113585254	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	1.828000	0.39111	2.123000	0.65237	0.528000	0.53228	CAT		0.353	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		8	74	0	0	0	0.008291	0	8	74				
CSMD3	114788	broad.mit.edu	37	8	113563004	113563004	+	Missense_Mutation	SNP	C	C	A	rs543725106		TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr8:113563004C>A	ENST00000297405.5	-	27	4704	c.4460G>T	c.(4459-4461)gGa>gTa	p.G1487V	CSMD3_ENST00000343508.3_Missense_Mutation_p.G1447V|CSMD3_ENST00000455883.2_Missense_Mutation_p.G1383V|CSMD3_ENST00000352409.3_Missense_Mutation_p.G1487V	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1487	CUB 8. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.G1447V(1)|p.G1487V(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AATAAGAGATCCACTAATTTC	0.378										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																													uc003ynu.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(4459-4461)GGA>GTA		CUB and Sushi multiple domains 3 isoform 1							77.0	77.0	77.0					8																	113563004		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113563004C>A	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.4460G>T	8.37:g.113563004C>A	ENSP00000297405:p.Gly1487Val	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Missense_Mutation_p.G759V|CSMD3_uc003ynt.2_Missense_Mutation_p.G1447V|CSMD3_uc011lhx.1_Missense_Mutation_p.G1383V	p.G1487V	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			27	4619	-			1487			Extracellular (Potential).|CUB 8.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.4460G>T	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.169772	0.78452	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.65178	-0.14;-0.14;-0.14;-0.14;-0.14	4.36	4.36	0.52297	CUB (5);	0.000000	0.64402	D	0.000002	D	0.86306	0.5901	H	0.97390	3.995	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.996	D;D;D	0.78314	0.984;0.991;0.939	D	0.91052	0.4879	10	0.56958	D	0.05	.	17.4138	0.87494	0.0:1.0:0.0:0.0	.	1383;1487;1447	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	V	1447;1487;827;1383;1487	ENSP00000345799:G1447V;ENSP00000297405:G1487V;ENSP00000341558:G827V;ENSP00000412263:G1383V;ENSP00000343124:G1487V	ENSP00000297405:G1487V	G	-	2	0	CSMD3	113632180	1.000000	0.71417	1.000000	0.80357	0.799000	0.45148	7.609000	0.82925	2.412000	0.81896	0.591000	0.81541	GGA		0.378	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		33	35	1	0	1.74807e-11	0.002096	2.54854e-11	33	35				
TRPS1	7227	broad.mit.edu	37	8	116599310	116599310	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr8:116599310C>A	ENST00000220888.5	-	4	2738	c.2579G>T	c.(2578-2580)gGa>gTa	p.G860V	TRPS1_ENST00000519674.1_Missense_Mutation_p.G860V|TRPS1_ENST00000519076.1_Missense_Mutation_p.G614V|TRPS1_ENST00000520276.1_Missense_Mutation_p.G864V|TRPS1_ENST00000395715.3_Missense_Mutation_p.G873V			Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	860					chondrocyte differentiation (GO:0002062)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|regulation of chondrocyte differentiation (GO:0032330)|regulation of histone deacetylation (GO:0031063)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.G860V(1)|p.G873V(1)		autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			AGACTTCTCTCCGCCAGCTGG	0.567									Langer-Giedion syndrome																														uc003ynz.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7						c.(2578-2580)GGA>GTA		zinc finger transcription factor TRPS1							37.0	39.0	38.0					8																	116599310		1817	4070	5887	SO:0001583	missense	7227	Langer-Giedion_syndrome	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II	negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:116599310C>A	AF183810	CCDS6318.2, CCDS64957.1	8q23.3	2014-06-23			ENSG00000104447	ENSG00000104447		"""GATA zinc finger domain containing"", ""Zinc fingers, C2H2-type"""	12340	protein-coding gene	gene with protein product		604386				8530105, 10615131, 10647898	Standard	NM_001282903		Approved	LGCR	uc003yny.3	Q9UHF7	OTTHUMG00000142829	ENST00000220888.5:c.2579G>T	8.37:g.116599310C>A	ENSP00000220888:p.Gly860Val					TRPS1_uc011lhy.1_Missense_Mutation_p.G864V|TRPS1_uc003yny.2_Missense_Mutation_p.G873V|TRPS1_uc010mcy.2_Missense_Mutation_p.G860V	p.G860V	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)		4	3038	-	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		860					B4E1Z5|Q08AU2|Q9NWE1|Q9UHH6	Missense_Mutation	SNP	ENST00000220888.5	37	c.2579G>T		.	.	.	.	.	.	.	.	.	.	C	11.17	1.559011	0.27827	.	.	ENSG00000104447	ENST00000395715;ENST00000220888;ENST00000519076;ENST00000520276;ENST00000519674	D;D;D;D;T	0.98567	-5.0;-4.97;-4.98;-4.97;0.83	5.76	5.76	0.90799	.	0.334388	0.31370	N	0.007761	D	0.94791	0.8318	N	0.12182	0.205	0.54753	D	0.999985	B;B;B	0.22414	0.004;0.012;0.069	B;B;B	0.18263	0.008;0.009;0.021	D	0.91695	0.5369	10	0.72032	D	0.01	.	16.4632	0.84070	0.0:0.8604:0.1396:0.0	.	864;860;873	Q9UHF7-3;Q9UHF7;Q9UHF7-2	.;TRPS1_HUMAN;.	V	873;860;614;864;860	ENSP00000379065:G873V;ENSP00000220888:G860V;ENSP00000428910:G614V;ENSP00000428680:G864V;ENSP00000429174:G860V	ENSP00000220888:G860V	G	-	2	0	TRPS1	116668485	0.912000	0.30974	0.895000	0.35142	0.376000	0.30014	2.182000	0.42556	2.726000	0.93360	0.655000	0.94253	GGA		0.567	TRPS1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000286436.3	NM_014112		10	64	1	0	2.17888e-05	0.006214	2.54784e-05	10	64				
COLEC10	10584	broad.mit.edu	37	8	120118127	120118127	+	Silent	SNP	G	G	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr8:120118127G>A	ENST00000332843.2	+	6	572	c.531G>A	c.(529-531)agG>agA	p.R177R		NM_006438.3	NP_006429.2	Q9Y6Z7	COL10_HUMAN	collectin sub-family member 10 (C-type lectin)	177	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.					collagen trimer (GO:0005581)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)	mannose binding (GO:0005537)	p.R177R(2)		endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21	all_cancers(13;4.13e-26)|Lung NSC(37;1.36e-07)|Ovarian(258;0.018)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00113)			CCCACTGCAGGATTCGGGGTG	0.507																																							uc003yoo.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(2)|skin(1)	3						c.(529-531)AGG>AGA		collectin sub-family member 10 precursor							105.0	82.0	90.0					8																	120118127		2203	4300	6503	SO:0001819	synonymous_variant	10584					collagen|cytoplasm	mannose binding	g.chr8:120118127G>A	AB002631	CCDS6327.1	8q23-q24.1	2007-12-19				ENSG00000184374		"""Collectins"""	2220	protein-coding gene	gene with protein product		607620				10224141	Standard	NM_006438		Approved	CL-L1	uc003yoo.3	Q9Y6Z7		ENST00000332843.2:c.531G>A	8.37:g.120118127G>A							p.R177R	NM_006438	NP_006429	Q9Y6Z7	COL10_HUMAN	STAD - Stomach adenocarcinoma(47;0.00113)		6	628	+	all_cancers(13;4.13e-26)|Lung NSC(37;1.36e-07)|Ovarian(258;0.018)|Hepatocellular(40;0.234)		177			C-type lectin.		Q3SYH6|Q6UW19	Silent	SNP	ENST00000332843.2	37	c.531G>A	CCDS6327.1																																																																																				0.507	COLEC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381225.1			28	31	0	0	0	0.003271	0	28	31				
ZNF572	137209	broad.mit.edu	37	8	125989981	125989981	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr8:125989981G>T	ENST00000319286.5	+	3	1625	c.1471G>T	c.(1471-1473)Gta>Tta	p.V491L		NM_152412.2	NP_689625.2	Q7Z3I7	ZN572_HUMAN	zinc finger protein 572	491					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.V491L(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	31	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			GAAAATTCACGTAGAAAAGCC	0.468										HNSCC(60;0.17)																													uc003yrr.2		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(1471-1473)GTA>TTA		zinc finger protein 572							111.0	118.0	116.0					8																	125989981		2203	4300	6503	SO:0001583	missense	137209				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:125989981G>T	BX537876	CCDS6354.1	8q24.13	2013-09-20			ENSG00000180938	ENSG00000180938		"""Zinc fingers, C2H2-type"""	26758	protein-coding gene	gene with protein product							Standard	NM_152412		Approved	FLJ38002	uc003yrr.3	Q7Z3I7	OTTHUMG00000164988	ENST00000319286.5:c.1471G>T	8.37:g.125989981G>T	ENSP00000319305:p.Val491Leu	HNSCC(60;0.17)					p.V491L	NM_152412	NP_689625	Q7Z3I7	ZN572_HUMAN	STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)		3	1626	+	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		491					A1L4F1|Q8N1Q0	Missense_Mutation	SNP	ENST00000319286.5	37	c.1471G>T	CCDS6354.1	.	.	.	.	.	.	.	.	.	.	G	5.975	0.363879	0.11296	.	.	ENSG00000180938	ENST00000319286	T	0.07327	3.2	5.0	-8.75	0.00834	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	2.181710	0.02039	N	0.049178	T	0.04137	0.0115	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.34750	-0.9816	10	0.87932	D	0	2.6306	2.1953	0.03909	0.4026:0.213:0.282:0.1023	.	491	Q7Z3I7	ZN572_HUMAN	L	491	ENSP00000319305:V491L	ENSP00000319305:V491L	V	+	1	0	ZNF572	126059162	0.000000	0.05858	0.000000	0.03702	0.218000	0.24690	-2.017000	0.01445	-1.835000	0.01191	-1.423000	0.01107	GTA		0.468	ZNF572-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381359.1	NM_152412		72	74	1	0	1.2647e-45	0.00361	2.42046e-45	72	74				
COL22A1	169044	broad.mit.edu	37	8	139606332	139606332	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr8:139606332C>A	ENST00000303045.6	-	63	4989	c.4543G>T	c.(4543-4545)Ggc>Tgc	p.G1515C	COL22A1_ENST00000435777.1_Missense_Mutation_p.G1495C|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1515	Collagen-like 15.|Gly-rich.|Pro-rich.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.G1515C(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CCCATGGGGCCGGCCCGGCCT	0.652										HNSCC(7;0.00092)																													uc003yvd.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(11)|pancreas(1)|skin(1)	13						c.(4543-4545)GGC>TGC		collagen, type XXII, alpha 1							28.0	32.0	30.0					8																	139606332		2203	4300	6503	SO:0001583	missense	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139606332C>A	AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.4543G>T	8.37:g.139606332C>A	ENSP00000303153:p.Gly1515Cys	HNSCC(7;0.00092)				COL22A1_uc011ljo.1_Missense_Mutation_p.G795C	p.G1515C	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		63	4990	-	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		1515			Pro-rich.|Gly-rich.|Collagen-like 15.		B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP	ENST00000303045.6	37	c.4543G>T	CCDS6376.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.967144	0.74131	.	.	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	D;D	0.99537	-6.11;-6.11	5.92	5.92	0.95590	.	0.000000	0.50627	D	0.000102	D	0.99829	0.9923	H	0.98111	4.15	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97005	0.9732	10	0.87932	D	0	.	19.3539	0.94402	0.0:1.0:0.0:0.0	.	1495;1515	Q8NFW1-2;Q8NFW1	.;COMA1_HUMAN	C	1515;1495;1208	ENSP00000303153:G1515C;ENSP00000387655:G1495C	ENSP00000303153:G1515C	G	-	1	0	COL22A1	139675514	1.000000	0.71417	0.995000	0.50966	0.858000	0.48976	7.453000	0.80700	2.820000	0.97059	0.650000	0.86243	GGC		0.652	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		11	66	1	0	3.86212e-05	0.008291	4.42498e-05	11	66				
COL22A1	169044	broad.mit.edu	37	8	139833475	139833475	+	Silent	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr8:139833475C>A	ENST00000303045.6	-	7	1595	c.1149G>T	c.(1147-1149)gcG>gcT	p.A383A	COL22A1_ENST00000435777.1_Silent_p.A383A	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	383	Laminin G-like.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.A383A(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			TCTGCACCAGCGCACAGTCAA	0.567										HNSCC(7;0.00092)																													uc003yvd.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(11)|pancreas(1)|skin(1)	13						c.(1147-1149)GCG>GCT		collagen, type XXII, alpha 1							189.0	136.0	154.0					8																	139833475		2203	4300	6503	SO:0001819	synonymous_variant	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139833475C>A	AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.1149G>T	8.37:g.139833475C>A		HNSCC(7;0.00092)					p.A383A	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		7	1596	-	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		383			TSP N-terminal.		B7ZMH0|C9K0G4|Q8IVT9	Silent	SNP	ENST00000303045.6	37	c.1149G>T	CCDS6376.1																																																																																				0.567	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		9	51	1	0	7.48243e-07	0.006214	9.20222e-07	9	51				
DENND3	22898	broad.mit.edu	37	8	142176321	142176321	+	Missense_Mutation	SNP	C	C	T	rs201877406	byFrequency	TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr8:142176321C>T	ENST00000262585.2	+	12	1624	c.1346C>T	c.(1345-1347)cCg>cTg	p.P449L	DENND3_ENST00000519811.1_Missense_Mutation_p.P529L|DENND3_ENST00000424248.1_Missense_Mutation_p.P397L	NM_014957.2	NP_055772.2	A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	449					cellular protein catabolic process (GO:0044257)|endosome to lysosome transport (GO:0008333)|positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.P449L(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			CCAAGGAGACCGACCGTTGAG	0.483													C|||	15	0.00299521	0.0	0.0	5008	,	,		20831	0.0149		0.0	False		,,,				2504	0.0						uc003yvy.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1345-1347)CCG>CTG		DENN/MADD domain containing 3							158.0	171.0	166.0					8																	142176321		2203	4300	6503	SO:0001583	missense	22898							g.chr8:142176321C>T	AB020677	CCDS34947.1	8q24.3	2013-01-10				ENSG00000105339		"""DENN/MADD domain containing"", ""WD repeat domain containing"""	29134	protein-coding gene	gene with protein product						10048485	Standard	NM_014957		Approved	KIAA0870	uc003yvy.3	A2RUS2		ENST00000262585.2:c.1346C>T	8.37:g.142176321C>T	ENSP00000262585:p.Pro449Leu					DENND3_uc010mep.2_Missense_Mutation_p.P410L|DENND3_uc003yvz.1_Missense_Mutation_p.P133L	p.P449L	NM_014957	NP_055772	A2RUS2	DEND3_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.105)		12	1624	+	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		449					B7ZM28|O94947|Q2TAM7|Q6ZMS6|Q96DK3	Missense_Mutation	SNP	ENST00000262585.2	37	c.1346C>T	CCDS34947.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	11.98	1.800841	0.31869	.	.	ENSG00000105339	ENST00000262585;ENST00000424248;ENST00000519811	T;T;T	0.16457	2.95;2.34;2.94	5.12	3.32	0.38043	.	0.339345	0.34580	N	0.003849	T	0.14184	0.0343	M	0.74881	2.28	0.42390	D	0.992524	P;P;P	0.42941	0.69;0.794;0.69	B;B;B	0.28709	0.062;0.093;0.043	T	0.08249	-1.0731	10	0.31617	T	0.26	-35.1181	7.1674	0.25698	0.0:0.6744:0.0:0.3255	.	529;397;449	E9PF32;A2RUS2-2;A2RUS2	.;.;DEND3_HUMAN	L	449;397;529	ENSP00000262585:P449L;ENSP00000410594:P397L;ENSP00000428714:P529L	ENSP00000262585:P449L	P	+	2	0	DENND3	142245503	0.555000	0.26530	0.011000	0.14972	0.010000	0.07245	0.861000	0.27885	0.660000	0.30964	0.561000	0.74099	CCG		0.483	DENND3-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_014957		37	232	0	0	0	0.005524	0	37	232				
PLEC	5339	broad.mit.edu	37	8	144997654	144997654	+	Missense_Mutation	SNP	C	C	T	rs199821611		TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr8:144997654C>T	ENST00000322810.4	-	31	7023	c.6854G>A	c.(6853-6855)cGg>cAg	p.R2285Q	PLEC_ENST00000345136.3_Missense_Mutation_p.R2148Q|PLEC_ENST00000357649.2_Missense_Mutation_p.R2152Q|PLEC_ENST00000398774.2_Missense_Mutation_p.R2116Q|PLEC_ENST00000436759.2_Missense_Mutation_p.R2175Q|PLEC_ENST00000356346.3_Missense_Mutation_p.R2134Q|PLEC_ENST00000354958.2_Missense_Mutation_p.R2126Q|PLEC_ENST00000527096.1_Missense_Mutation_p.R2171Q|PLEC_ENST00000354589.3_Missense_Mutation_p.R2148Q	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2285	Central fibrous rod domain.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)	p.R2148Q(1)|p.R2175Q(1)|p.R2285Q(1)		NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CTGTGCCCGCCGCGCCGCCTC	0.687																																							uc003zaf.1		NA																	3	Substitution - Missense(3)		lung(3)	large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						c.(6853-6855)CGG>CAG		plectin isoform 1		C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	0,3870		0,0,1935	8.0	11.0	10.0		6524,6401,6377,6854,6347,6443,6455,6443	3.9	0.6	8		10	2,8004		0,2,4001	no	missense,missense,missense,missense,missense,missense,missense,missense	PLEC	NM_000445.3,NM_201378.2,NM_201379.1,NM_201380.2,NM_201381.1,NM_201382.2,NM_201383.1,NM_201384.1	43,43,43,43,43,43,43,43	0,2,5936	TT,TC,CC		0.025,0.0,0.0168	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	2175/4575,2134/4534,2126/4526,2285/4685,2116/4516,2148/4548,2152/4552,2148/4548	144997654	2,11874	1935	4003	5938	SO:0001583	missense	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle	g.chr8:144997654C>T	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.6854G>A	8.37:g.144997654C>T	ENSP00000323856:p.Arg2285Gln					PLEC_uc003zab.1_Missense_Mutation_p.R2148Q|PLEC_uc003zac.1_Missense_Mutation_p.R2152Q|PLEC_uc003zad.2_Missense_Mutation_p.R2148Q|PLEC_uc003zae.1_Missense_Mutation_p.R2116Q|PLEC_uc003zag.1_Missense_Mutation_p.R2126Q|PLEC_uc003zah.2_Missense_Mutation_p.R2134Q|PLEC_uc003zaj.2_Missense_Mutation_p.R2175Q	p.R2285Q	NM_201380	NP_958782	Q15149	PLEC_HUMAN			31	7024	-			2285			Central fibrous rod domain.|Potential.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	c.6854G>A	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	C	4.061	0.009139	0.07912	0.0	2.5E-4	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.77877	-1.09;-1.09;-1.12;-1.09;-1.11;-1.09;-1.09;-1.13;-1.09	4.98	3.88	0.44766	.	0.087690	0.41605	U	0.000854	T	0.59569	0.2203	L	0.43152	1.355	0.21675	N	0.999592	P;P;P;P;P;P;P;P	0.48230	0.907;0.846;0.846;0.85;0.846;0.846;0.907;0.907	B;B;B;B;B;B;B;B	0.31495	0.131;0.131;0.131;0.062;0.131;0.131;0.131;0.131	T	0.62412	-0.6860	10	0.56958	D	0.05	.	4.5264	0.11983	0.2173:0.6149:0.0:0.1678	.	2175;2134;2126;2285;2116;2148;2152;2148	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	Q	2148;2152;2148;2116;2285;2126;2134;2175;2171	ENSP00000344848:R2148Q;ENSP00000350277:R2152Q;ENSP00000346602:R2148Q;ENSP00000381756:R2116Q;ENSP00000323856:R2285Q;ENSP00000347044:R2126Q;ENSP00000348702:R2134Q;ENSP00000388180:R2175Q;ENSP00000434583:R2171Q	ENSP00000323856:R2285Q	R	-	2	0	PLEC	145069642	0.023000	0.18921	0.579000	0.28588	0.045000	0.14185	0.816000	0.27267	2.302000	0.77476	0.448000	0.29417	CGG		0.687	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		6	6	0	0	0	0.004482	0	6	6				
OPLAH	26873	broad.mit.edu	37	8	145113227	145113227	+	Silent	SNP	C	C	G			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr8:145113227C>G	ENST00000426825.1	-	7	945	c.864G>C	c.(862-864)tcG>tcC	p.S288S	OPLAH_ENST00000534424.1_5'UTR	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	288					glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	5-oxoprolinase (ATP-hydrolyzing) activity (GO:0017168)|ATP binding (GO:0005524)	p.S288S(1)		breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CGGCCGGGCCCGAGAGCACAG	0.682																																							uc003zar.3		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(862-864)TCG>TCC		5-oxoprolinase (ATP-hydrolysing)	L-Glutamic Acid(DB00142)						6.0	9.0	8.0					8																	145113227		1933	4089	6022	SO:0001819	synonymous_variant	26873						5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding	g.chr8:145113227C>G	AF024672, AB122018	CCDS75802.1	8q24.3	2010-11-23			ENSG00000178814	ENSG00000178814	3.5.2.9		8149	protein-coding gene	gene with protein product		614243				14993790	Standard	NM_017570		Approved	OPLA, 5-Opase	uc003zar.3	O14841		ENST00000426825.1:c.864G>C	8.37:g.145113227C>G						OPLAH_uc003zat.1_Silent_p.S66S	p.S288S	NM_017570	NP_060040	O14841	OPLA_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		7	946	-	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		288					A5PKY8|Q75W65|Q9Y4Q0	Silent	SNP	ENST00000426825.1	37	c.864G>C																																																																																					0.682	OPLAH-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_017570		7	6	0	0	0	0.00308	0	7	6				
DMRT3	58524	broad.mit.edu	37	9	977258	977258	+	Missense_Mutation	SNP	T	T	G			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr9:977258T>G	ENST00000190165.2	+	1	295	c.257T>G	c.(256-258)cTc>cGc	p.L86R		NM_021240.2	NP_067063.1	Q9NQL9	DMRT3_HUMAN	doublesex and mab-3 related transcription factor 3	86					adult walking behavior (GO:0007628)|male sex differentiation (GO:0046661)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|sex differentiation (GO:0007548)|transcription, DNA-templated (GO:0006351)|transmission of nerve impulse (GO:0019226)|ventral spinal cord interneuron specification (GO:0021521)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L86R(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)		TTGGAGAGCCTCATCCCCGAC	0.741																																							uc003zgw.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(256-258)CTC>CGC		doublesex and mab-3 related transcription factor							23.0	22.0	22.0					9																	977258		2197	4296	6493	SO:0001583	missense	58524				cell differentiation|multicellular organismal development|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr9:977258T>G	AJ301581	CCDS6443.1	9p24.3	2008-07-21	2001-12-17	2001-12-07	ENSG00000064218	ENSG00000064218			13909	protein-coding gene	gene with protein product	"""testis-specific protein"""	614754	"""DMRT-like family A3"""	DMRTA3		11543627, 10729223	Standard	NM_021240		Approved		uc003zgw.2	Q9NQL9	OTTHUMG00000019436	ENST00000190165.2:c.257T>G	9.37:g.977258T>G	ENSP00000190165:p.Leu86Arg						p.L86R	NM_021240	NP_067063	Q9NQL9	DMRT3_HUMAN		Lung(218;0.0196)	1	295	+		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)	86					Q7LA03|Q7LCH8|Q96SC7|Q9NRQ9	Missense_Mutation	SNP	ENST00000190165.2	37	c.257T>G	CCDS6443.1	.	.	.	.	.	.	.	.	.	.	T	16.22	3.062452	0.55432	.	.	ENSG00000064218	ENST00000190165	T	0.56776	0.44	4.01	4.01	0.46588	.	0.000000	0.38663	U	0.001613	T	0.66925	0.2839	M	0.70275	2.135	0.80722	D	1	D	0.71674	0.998	D	0.85130	0.997	T	0.64799	-0.6322	10	0.13108	T	0.6	-30.5181	12.9895	0.58610	0.0:0.0:0.0:1.0	.	86	Q9NQL9	DMRT3_HUMAN	R	86	ENSP00000190165:L86R	ENSP00000190165:L86R	L	+	2	0	DMRT3	967258	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	3.933000	0.56545	1.462000	0.47948	0.374000	0.22700	CTC		0.741	DMRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051490.1	NM_021240		7	13	0	0	0	0.00308	0	7	13				
SMARCA2	6595	broad.mit.edu	37	9	2054677	2054677	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr9:2054677C>T	ENST00000382203.1	+	6	1336	c.1127C>T	c.(1126-1128)gCa>gTa	p.A376V	SMARCA2_ENST00000382194.1_Missense_Mutation_p.A376V|SMARCA2_ENST00000357248.2_Missense_Mutation_p.A376V|SMARCA2_ENST00000349721.2_Missense_Mutation_p.A376V			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	376					aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|chromatin remodeling (GO:0006338)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)	p.A372V(1)|p.A376V(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		AGAACCAAAGCAACCGTGGAA	0.408																																							uc003zhc.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|central_nervous_system(1)	3						c.(1126-1128)GCA>GTA		SWI/SNF-related matrix-associated							103.0	107.0	106.0					9																	2054677		2203	4300	6503	SO:0001583	missense	6595				chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding	g.chr9:2054677C>T	D26155	CCDS34977.1, CCDS34978.1, CCDS75807.1, CCDS75808.1	9p24.3	2008-11-11	2006-11-09		ENSG00000080503	ENSG00000080503			11098	protein-coding gene	gene with protein product		600014		SNF2L2		8012116	Standard	NM_003070		Approved	BAF190, hSNF2a, hBRM, Sth1p, SNF2LA, BRM, SNF2, SWI2	uc003zhc.3	P51531	OTTHUMG00000019445	ENST00000382203.1:c.1127C>T	9.37:g.2054677C>T	ENSP00000371638:p.Ala376Val					SMARCA2_uc003zhd.2_Missense_Mutation_p.A376V|SMARCA2_uc010mha.2_Missense_Mutation_p.A367V	p.A376V	NM_003070	NP_003061	P51531	SMCA2_HUMAN		GBM - Glioblastoma multiforme(50;0.0475)	6	1226	+		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)	376					B1ALG3|B1ALG4|D3DRH4|D3DRH5	Missense_Mutation	SNP	ENST00000382203.1	37	c.1127C>T	CCDS34977.1	.	.	.	.	.	.	.	.	.	.	C	36	5.716554	0.96830	.	.	ENSG00000080503	ENST00000349721;ENST00000357248;ENST00000450198;ENST00000382203;ENST00000382194	D;D;T;D;D	0.89681	-2.55;-2.55;2.6;-2.55;-2.55	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	D	0.94361	0.8187	M	0.71206	2.165	0.80722	D	1	D;D	0.69078	0.996;0.997	D;D	0.77557	0.99;0.985	D	0.93783	0.7085	10	0.59425	D	0.04	-19.2873	20.3334	0.98727	0.0:1.0:0.0:0.0	.	376;376	P51531-2;P51531	.;SMCA2_HUMAN	V	376	ENSP00000265773:A376V;ENSP00000349788:A376V;ENSP00000392081:A376V;ENSP00000371638:A376V;ENSP00000371629:A376V	ENSP00000265773:A376V	A	+	2	0	SMARCA2	2044677	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.776000	0.85560	2.818000	0.97014	0.591000	0.81541	GCA		0.408	SMARCA2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051505.1	NM_003070		25	48	0	0	0	0.005443	0	25	48				
SH3GL2	6456	broad.mit.edu	37	9	17789527	17789527	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr9:17789527G>T	ENST00000380607.4	+	6	723	c.603G>T	c.(601-603)atG>atT	p.M201I	SH3GL2_ENST00000537391.1_Missense_Mutation_p.M154I	NM_003026.2	NP_003017.1	Q99962	SH3G2_HUMAN	SH3-domain GRB2-like 2	201	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|central nervous system development (GO:0007417)|epidermal growth factor receptor signaling pathway (GO:0007173)|membrane organization (GO:0061024)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neurotrophin TRK receptor signaling pathway (GO:0048011)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of receptor internalization (GO:0002090)|signal transduction (GO:0007165)|synaptic vesicle endocytosis (GO:0048488)	clathrin-coated endocytic vesicle membrane (GO:0030669)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)	p.M201I(1)		NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(50;2.71e-10)|Lung(42;0.203)		AGTCAAGCATGTTCAATCTCT	0.373																																							uc003zna.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(601-603)ATG>ATT		SH3-domain GRB2-like 2							99.0	98.0	98.0					9																	17789527		2203	4300	6503	SO:0001583	missense	6456				axon guidance|central nervous system development|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport	cytosol|Golgi membrane|plasma membrane	identical protein binding|lipid binding	g.chr9:17789527G>T	X99657	CCDS6483.1	9p22	2008-02-05			ENSG00000107295	ENSG00000107295			10831	protein-coding gene	gene with protein product		604465				9169142	Standard	XM_005251549		Approved	SH3P4, SH3D2A, CNSA2, EEN-B1	uc003zna.3	Q99962	OTTHUMG00000019601	ENST00000380607.4:c.603G>T	9.37:g.17789527G>T	ENSP00000369981:p.Met201Ile					SH3GL2_uc011lmx.1_Missense_Mutation_p.M166I|SH3GL2_uc011lmy.1_Missense_Mutation_p.M154I	p.M201I	NM_003026	NP_003017	Q99962	SH3G2_HUMAN		GBM - Glioblastoma multiforme(50;2.71e-10)|Lung(42;0.203)	6	891	+			201			BAR.|Potential.		B2R618|Q9NQK5	Missense_Mutation	SNP	ENST00000380607.4	37	c.603G>T	CCDS6483.1	.	.	.	.	.	.	.	.	.	.	G	33	5.253256	0.95336	.	.	ENSG00000107295	ENST00000397481;ENST00000380607;ENST00000537391	T;T	0.68765	-0.35;-0.35	5.99	5.99	0.97316	BAR (3);	0.000000	0.85682	D	0.000000	D	0.86760	0.6010	M	0.91818	3.245	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.994	D	0.88389	0.3007	10	0.87932	D	0	.	20.4777	0.99188	0.0:0.0:1.0:0.0	.	166;201	B7Z7W3;Q99962	.;SH3G2_HUMAN	I	179;201;154	ENSP00000369981:M201I;ENSP00000443365:M154I	ENSP00000369981:M201I	M	+	3	0	SH3GL2	17779527	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.799000	0.99117	2.840000	0.97914	0.655000	0.94253	ATG		0.373	SH3GL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051796.1	NM_003026		27	31	1	0	1.77063e-15	0.005443	2.88151e-15	27	31				
TAF1L	138474	broad.mit.edu	37	9	32634278	32634278	+	Missense_Mutation	SNP	T	T	C			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr9:32634278T>C	ENST00000242310.4	-	1	1389	c.1300A>G	c.(1300-1302)Atc>Gtc	p.I434V	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	434					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)	p.I434V(1)		breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		CCATCCCAGATGATAGAATCC	0.468																																							uc003zrg.1		NA																	1	Substitution - Missense(1)		lung(1)	lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1)	26						c.(1300-1302)ATC>GTC		TBP-associated factor RNA polymerase 1-like							234.0	216.0	222.0					9																	32634278		2203	4300	6503	SO:0001583	missense	138474				male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	g.chr9:32634278T>C	AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"""TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"""			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.1300A>G	9.37:g.32634278T>C	ENSP00000418379:p.Ile434Val					uc003zrh.1_RNA	p.I434V	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)	1	1390	-			434					Q0VG57	Missense_Mutation	SNP	ENST00000242310.4	37	c.1300A>G	CCDS35003.1	.	.	.	.	.	.	.	.	.	.	T	10.59	1.393056	0.25118	.	.	ENSG00000122728	ENST00000242310	T	0.08458	3.09	0.479	0.479	0.16796	.	0.000000	0.85682	D	0.000000	T	0.04679	0.0127	L	0.28115	0.83	0.45427	D	0.998406	P	0.34780	0.468	B	0.37091	0.241	T	0.45381	-0.9265	10	0.10636	T	0.68	.	5.1959	0.15236	0.0:1.0E-4:0.0:0.9999	.	434	Q8IZX4	TAF1L_HUMAN	V	434	ENSP00000418379:I434V	ENSP00000418379:I434V	I	-	1	0	TAF1L	32624278	1.000000	0.71417	0.971000	0.41717	0.375000	0.29983	5.066000	0.64351	0.426000	0.26116	0.164000	0.16699	ATC		0.468	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2			40	153	0	0	0	0.006999	0	40	153				
SMU1	55234	broad.mit.edu	37	9	33071822	33071822	+	Silent	SNP	G	G	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr9:33071822G>A	ENST00000397149.3	-	3	356	c.306C>T	c.(304-306)ccC>ccT	p.P102P	SMU1_ENST00000536631.1_Intron	NM_018225.2	NP_060695.2	Q2TAY7	SMU1_HUMAN	smu-1 suppressor of mec-8 and unc-52 homolog (C. elegans)	102						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.P102P(2)		endometrium(2)|lung(4)|ovary(2)|prostate(1)	9			LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.11)		ACATGATCATGGGATCAGTCT	0.418																																							uc003zsf.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(304-306)CCC>CCT		smu-1 suppressor of mec-8 and unc-52 homolog							114.0	102.0	106.0					9																	33071822		2203	4300	6503	SO:0001819	synonymous_variant	55234					cytoplasm|nucleus		g.chr9:33071822G>A	AK001667	CCDS6534.1	9p12	2013-01-10			ENSG00000122692	ENSG00000122692		"""WD repeat domain containing"""	18247	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 57"""					11438655, 11410362	Standard	NM_018225		Approved	SMU-1, FLJ10805, BWD, fSAP57	uc003zsf.1	Q2TAY7	OTTHUMG00000019757	ENST00000397149.3:c.306C>T	9.37:g.33071822G>A						SMU1_uc010mjo.1_Silent_p.P102P|SMU1_uc010mjp.1_Silent_p.P102P|SMU1_uc011lnu.1_Intron	p.P102P	NM_018225	NP_060695	Q2TAY7	SMU1_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.11)	3	414	-			102					B4E3L0|Q9BU59|Q9HA96|Q9NVD1	Silent	SNP	ENST00000397149.3	37	c.306C>T	CCDS6534.1																																																																																				0.418	SMU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052022.1	NM_018225		50	42	0	0	0	0.00361	0	50	42				
NPR2	4882	broad.mit.edu	37	9	35792526	35792526	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr9:35792526G>A	ENST00000342694.2	+	1	376	c.121G>A	c.(121-123)Gcc>Acc	p.A41T		NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor 2	41					bone development (GO:0060348)|cell surface receptor signaling pathway (GO:0007166)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cGMP biosynthetic process (GO:0006182)|intracellular signal transduction (GO:0035556)|negative regulation of meiotic cell cycle (GO:0051447)|negative regulation of oocyte maturation (GO:1900194)|ossification (GO:0001503)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|signal transduction (GO:0007165)|single organism reproductive process (GO:0044702)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)	p.A41T(2)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	CTATGCCTGGGCCTGGCCACG	0.697																																							uc003zyd.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|stomach(1)	3						c.(121-123)GCC>ACC		natriuretic peptide receptor B precursor	Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)						44.0	45.0	45.0					9																	35792526		2203	4298	6501	SO:0001583	missense	4882				intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure	integral to membrane|plasma membrane	GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity	g.chr9:35792526G>A	AJ005282	CCDS6590.1	9p21-p12	2014-03-03	2014-03-03		ENSG00000159899	ENSG00000159899			7944	protein-coding gene	gene with protein product	"""guanylate cyclase B"""	108961	"""acromesomelic dysplasia, Maroteaux type"", ""atrionatriuretic peptide receptor B"", ""natriuretic peptide receptor B"""	ANPRB, NPRB, AMDM		9634515, 15146390	Standard	XM_005251478		Approved	GUCY2B, ANPb	uc003zyd.3	P20594	OTTHUMG00000019871	ENST00000342694.2:c.121G>A	9.37:g.35792526G>A	ENSP00000341083:p.Ala41Thr					NPR2_uc010mlb.2_Missense_Mutation_p.A41T	p.A41T	NM_003995	NP_003986	P20594	ANPRB_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		1	121	+	all_epithelial(49;0.161)		41			Extracellular (Potential).		B0ZBF2|B0ZBF3|D3DRP3|D3DRP4|O60871|Q4VAK7|Q5TCV2|Q8TA93|Q9UQ50	Missense_Mutation	SNP	ENST00000342694.2	37	c.121G>A	CCDS6590.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.076450	0.76415	.	.	ENSG00000159899	ENST00000342694	T	0.74106	-0.81	4.09	4.09	0.47781	.	0.000000	0.43919	D	0.000517	T	0.65186	0.2667	N	0.08118	0	0.58432	D	0.999999	P;P	0.41345	0.746;0.483	P;B	0.50314	0.637;0.122	T	0.68112	-0.5495	10	0.39692	T	0.17	.	13.5193	0.61559	0.0:0.0:1.0:0.0	.	41;41	P20594-2;P20594	.;ANPRB_HUMAN	T	41	ENSP00000341083:A41T	ENSP00000341083:A41T	A	+	1	0	NPR2	35782526	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.897000	0.69831	2.261000	0.74972	0.563000	0.77884	GCC		0.697	NPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052345.1			10	9	0	0	0	0.000978	0	10	9				
SPATA31A6	389730	broad.mit.edu	37	9	43627176	43627176	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr9:43627176G>T	ENST00000332857.6	-	4	1539	c.1511C>A	c.(1510-1512)cCa>cAa	p.P504Q	SPATA31A6_ENST00000496386.1_5'Flank	NM_001145196.1	NP_001138668.1	Q5VVP1	S31A6_HUMAN	SPATA31 subfamily A, member 6	504					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)		p.P504Q(1)									AGATAGGACTGGGAAAGAAGA	0.532																																							uc011lrb.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1510-1512)CCA>CAA		hypothetical protein LOC389730							54.0	58.0	57.0					9																	43627176		612	1534	2146	SO:0001583	missense	389730					integral to membrane		g.chr9:43627176G>T		CCDS75837.1	9p11.2	2012-10-15	2012-10-12	2012-10-12	ENSG00000185775	ENSG00000185775			32006	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member A6"""	FAM75A6		20850414	Standard	NM_001145196		Approved	OTTHUMG00000013224	uc011lrb.2	Q5VVP1	OTTHUMG00000013224	ENST00000332857.6:c.1511C>A	9.37:g.43627176G>T	ENSP00000329825:p.Pro504Gln						p.P504Q	NM_001145196	NP_001138668	Q5VVP1	F75A6_HUMAN			4	1540	-			504						Missense_Mutation	SNP	ENST00000332857.6	37	c.1511C>A	CCDS47973.1	.	.	.	.	.	.	.	.	.	.	G	12.48	1.951033	0.34471	.	.	ENSG00000185775	ENST00000332857	T	0.12361	2.69	2.41	2.41	0.29592	.	0.449872	0.19235	N	0.119302	T	0.30603	0.0770	M	0.75085	2.285	0.09310	N	1	D	0.60575	0.988	D	0.64410	0.925	T	0.01767	-1.1278	10	0.66056	D	0.02	-0.1462	8.4857	0.33069	0.0:0.0:1.0:0.0	.	504	Q5VVP1	F75A6_HUMAN	Q	504	ENSP00000329825:P504Q	ENSP00000329825:P504Q	P	-	2	0	FAM75A6	43567172	0.023000	0.18921	0.007000	0.13788	0.005000	0.04900	1.450000	0.35134	1.668000	0.50843	0.393000	0.25936	CCA		0.532	SPATA31A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036987.1	NM_001145196		136	217	1	0	1.2273e-65	0.00361	2.36661e-65	136	217				
RORB	6096	broad.mit.edu	37	9	77282816	77282816	+	Splice_Site	SNP	A	A	G			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr9:77282816A>G	ENST00000396204.2	+	8	1143	c.1143A>G	c.(1141-1143)ccA>ccG	p.P381P	RORB_ENST00000376896.3_Splice_Site_p.P370P			Q92753	RORB_HUMAN	RAR-related orphan receptor B	381	Ligand-binding. {ECO:0000255}.				amacrine cell differentiation (GO:0035881)|cellular response to retinoic acid (GO:0071300)|eye photoreceptor cell development (GO:0042462)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|rhythmic process (GO:0048511)|transcription initiation from RNA polymerase II promoter (GO:0006367)|visual perception (GO:0007601)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.P370P(1)		breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	12					Melatonin(DB01065)	TGATATCTCCAGGTAGGGCAG	0.403																																							uc004aji.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|lung(1)|skin(1)	4						c.(1141-1143)CCA>CCG		RAR-related orphan receptor B							189.0	162.0	171.0					9																	77282816		2203	4300	6503	SO:0001630	splice_region_variant	6096				eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr9:77282816A>G	Y08639	CCDS6646.1	9q22	2013-01-16			ENSG00000198963	ENSG00000198963		"""Nuclear hormone receptors"""	10259	protein-coding gene	gene with protein product		601972				7926749	Standard	NM_006914		Approved	RZRB, NR1F2, ROR-BETA	uc004ajh.3	Q92753	OTTHUMG00000020026	ENST00000396204.2:c.1144+1A>G	9.37:g.77282816A>G						RORB_uc004ajh.2_Silent_p.P370P	p.P381P	NM_006914	NP_008845	Q92753	RORB_HUMAN			8	1192	+			381			Ligand-binding (Potential).		Q8WX73	Silent	SNP	ENST00000396204.2	37	c.1143A>G																																																																																					0.403	RORB-201	KNOWN	basic	protein_coding	protein_coding			Silent	5	80	0	0	0	0.001984	0	5	80				
SPATA31D1	389763	broad.mit.edu	37	9	84609573	84609573	+	Missense_Mutation	SNP	T	T	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr9:84609573T>A	ENST00000344803.2	+	4	4235	c.4188T>A	c.(4186-4188)ttT>ttA	p.F1396L		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	1396					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)		p.F1396L(2)									GAGCTGCCTTTACTGGGACTA	0.453																																							uc004amn.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(4186-4188)TTT>TTA		hypothetical protein LOC389763							27.0	25.0	26.0					9																	84609573		1854	4105	5959	SO:0001583	missense	389763					integral to membrane		g.chr9:84609573T>A		CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member D1"""	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.4188T>A	9.37:g.84609573T>A	ENSP00000341988:p.Phe1396Leu						p.F1396L	NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN			4	4235	+			1396						Missense_Mutation	SNP	ENST00000344803.2	37	c.4188T>A	CCDS47986.1	.	.	.	.	.	.	.	.	.	.	T	3.417	-0.118873	0.06838	.	.	ENSG00000214929	ENST00000344803	T	0.08008	3.14	3.23	-1.49	0.08718	.	.	.	.	.	T	0.03095	0.0091	N	0.14661	0.345	0.09310	N	1	B	0.23650	0.089	B	0.20184	0.028	T	0.45175	-0.9279	9	0.09590	T	0.72	1.1135	0.294	0.00262	0.2938:0.1316:0.1986:0.376	.	1396	Q6ZQQ2	F75D1_HUMAN	L	1396	ENSP00000341988:F1396L	ENSP00000341988:F1396L	F	+	3	2	FAM75D1	83799393	0.000000	0.05858	0.000000	0.03702	0.063000	0.16089	-0.075000	0.11431	-0.257000	0.09459	0.533000	0.62120	TTT		0.453	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402325.1	NM_001001670		7	8	0	0	0	0.00308	0	7	8				
ECM2	1842	broad.mit.edu	37	9	95263280	95263280	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr9:95263280G>T	ENST00000344604.5	-	9	1809	c.1660C>A	c.(1660-1662)Cta>Ata	p.L554I	ECM2_ENST00000444490.2_Missense_Mutation_p.L532I|CENPP_ENST00000375587.3_Intron	NM_001197295.1|NM_001393.3	NP_001184224.1|NP_001384.1	O94769	ECM2_HUMAN	extracellular matrix protein 2, female organ and adipocyte specific	554					cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	interstitial matrix (GO:0005614)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)	p.L554I(1)|p.L532I(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						GACTTGGGTAGATAGGACGGG	0.473																																							uc004ash.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(1660-1662)CTA>ATA		extracellular matrix protein 2 precursor							147.0	134.0	138.0					9																	95263280		2203	4300	6503	SO:0001583	missense	1842				cell-matrix adhesion		integrin binding	g.chr9:95263280G>T	AB011792	CCDS6698.1, CCDS56578.1	9q22.3	2008-07-21			ENSG00000106823	ENSG00000106823			3154	protein-coding gene	gene with protein product	"""matrix glycoprotein SC1/ECM2"""	603479				9790758	Standard	NM_001393		Approved		uc011lty.2	O94769	OTTHUMG00000020226	ENST00000344604.5:c.1660C>A	9.37:g.95263280G>T	ENSP00000344758:p.Leu554Ile					CENPP_uc004arz.2_Intron|CENPP_uc010mqx.2_Intron|ECM2_uc004asf.3_Missense_Mutation_p.L532I|ECM2_uc011lty.1_Missense_Mutation_p.L554I|ECM2_uc004asg.2_Missense_Mutation_p.L532I|ECM2_uc010mqz.1_5'UTR	p.L554I	NM_001393	NP_001384	O94769	ECM2_HUMAN			9	1725	-			554			LRR 8.		B2R730|E2PU11|Q5T9F2|Q7Z3D0	Missense_Mutation	SNP	ENST00000344604.5	37	c.1660C>A	CCDS6698.1	.	.	.	.	.	.	.	.	.	.	G	19.65	3.867714	0.72065	.	.	ENSG00000106823	ENST00000444490;ENST00000344604	T;T	0.30448	1.53;5.2	5.35	3.52	0.40303	.	0.000000	0.85682	D	0.000000	T	0.42200	0.1192	L	0.39566	1.225	0.49798	D	0.99982	D;D;D	0.71674	0.989;0.998;0.998	D;D;D	0.76575	0.955;0.964;0.988	T	0.15925	-1.0420	10	0.49607	T	0.09	.	9.2954	0.37813	0.2195:0.0:0.7805:0.0	.	554;532;532	O94769;B4DK93;O94769-2	ECM2_HUMAN;.;.	I	532;554	ENSP00000393971:L532I;ENSP00000344758:L554I	ENSP00000344758:L554I	L	-	1	2	ECM2	94303101	1.000000	0.71417	0.637000	0.29366	0.978000	0.69477	3.317000	0.51968	0.758000	0.33059	0.591000	0.81541	CTA		0.473	ECM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053091.1	NM_001393		33	37	1	0	4.74835e-14	0.002096	7.5121e-14	33	37				
COL15A1	1306	broad.mit.edu	37	9	101788185	101788185	+	Splice_Site	SNP	G	G	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr9:101788185G>A	ENST00000375001.3	+	16	2403		c.e16-1			NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1						angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|signal transduction (GO:0007165)	collagen type XV trimer (GO:0005582)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	extracellular matrix structural constituent (GO:0005201)	p.?(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				ATGTTCCCCAGGGCCCTGAGG	0.577																																							uc004azb.1		NA																	1	Unknown(1)		lung(1)	ovary(6)	6						c.e16-1		alpha 1 type XV collagen precursor							78.0	68.0	71.0					9																	101788185		2203	4300	6503	SO:0001630	splice_region_variant	1306				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding	g.chr9:101788185G>A	L25286	CCDS35081.1	9q21-q22	2013-01-16			ENSG00000204291	ENSG00000204291		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2192	protein-coding gene	gene with protein product	"""collagen type XV proteoglycan"""	120325				1427836	Standard	NM_001855		Approved		uc004azb.2	P39059	OTTHUMG00000020351	ENST00000375001.3:c.1981-1G>A	9.37:g.101788185G>A							p.G661_splice	NM_001855	NP_001846	P39059	COFA1_HUMAN			16	2187	+		Acute lymphoblastic leukemia(62;0.0562)						Q5T6J4|Q9UDC5|Q9Y4W4	Splice_Site	SNP	ENST00000375001.3	37	c.1981_splice	CCDS35081.1	.	.	.	.	.	.	.	.	.	.	G	17.44	3.391432	0.62066	.	.	ENSG00000204291	ENST00000375001;ENST00000536083	.	.	.	4.58	4.58	0.56647	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.7524	0.57316	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	COL15A1	100828006	1.000000	0.71417	1.000000	0.80357	0.856000	0.48823	5.395000	0.66291	2.397000	0.81536	0.491000	0.48974	.		0.577	COL15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053386.3	NM_001855	Intron	6	8	0	0	0	0.001984	0	6	8				
SMC2	10592	broad.mit.edu	37	9	106901507	106901507	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr9:106901507G>T	ENST00000286398.7	+	25	3793	c.3505G>T	c.(3505-3507)Gcc>Tcc	p.A1169S	SMC2_ENST00000374787.3_Missense_Mutation_p.A1169S|SMC2_ENST00000374793.3_Missense_Mutation_p.A1169S	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	1169					kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)	p.A1169S(2)		breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						TTCTACAGTAGCCAGATTTAC	0.358																																							uc004bbv.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|breast(1)	9						c.(3505-3507)GCC>TCC		structural maintenance of chromosomes 2							89.0	89.0	89.0					9																	106901507		2203	4300	6503	SO:0001583	missense	10592				cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism	condensin complex|cytoplasm|nuclear chromosome	ATP binding|protein heterodimerization activity	g.chr9:106901507G>T	AF092563	CCDS35086.1	9q31.1	2008-05-14	2006-07-06	2006-07-06	ENSG00000136824	ENSG00000136824		"""Structural maintenance of chromosomes proteins"""	14011	protein-coding gene	gene with protein product		605576	"""SMC2 (structural maintenance of chromosomes 2, yeast)-like 1"", ""SMC2 structural maintenance of chromosomes 2-like 1 (yeast)"""	SMC2L1		9789013	Standard	NM_006444		Approved	hCAP-E, CAP-E	uc011lvl.2	O95347	OTTHUMG00000020401	ENST00000286398.7:c.3505G>T	9.37:g.106901507G>T	ENSP00000286398:p.Ala1169Ser					SMC2_uc004bbw.2_Missense_Mutation_p.A1169S|SMC2_uc011lvl.1_Missense_Mutation_p.A1169S|SMC2_uc004bbx.2_Missense_Mutation_p.A1169S|SMC2_uc004bby.2_RNA	p.A1169S	NM_001042551	NP_001036016	O95347	SMC2_HUMAN			25	3793	+			1169					Q6IEE0|Q9P1P2	Missense_Mutation	SNP	ENST00000286398.7	37	c.3505G>T	CCDS35086.1	.	.	.	.	.	.	.	.	.	.	G	4.035	0.004114	0.07866	.	.	ENSG00000136824	ENST00000286398;ENST00000374793;ENST00000374787	T;T;T	0.77620	-1.11;-1.11;-1.11	5.46	2.39	0.29439	.	0.280236	0.39475	N	0.001345	T	0.49677	0.1571	N	0.08118	0	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42616	-0.9441	10	0.02654	T	1	-0.702	7.0877	0.25267	0.0869:0.0:0.5798:0.3333	.	1169	O95347	SMC2_HUMAN	S	1169	ENSP00000286398:A1169S;ENSP00000363925:A1169S;ENSP00000363919:A1169S	ENSP00000286398:A1169S	A	+	1	0	SMC2	105941328	0.923000	0.31300	0.978000	0.43139	0.984000	0.73092	0.162000	0.16501	0.311000	0.23014	0.591000	0.81541	GCC		0.358	SMC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053470.1			20	25	1	0	5.03518e-11	0.007413	7.25805e-11	20	25				
OR13F1	138805	broad.mit.edu	37	9	107267268	107267269	+	Missense_Mutation	DNP	CA	CA	TG			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	CA	CA	-	-	CA	CA	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr9:107267268_107267269CA>TG	ENST00000334726.2	+	1	814_815	c.725_726CA>TG	c.(724-726)aCA>aTG	p.T242M		NM_001004485.1	NP_001004485.1	Q8NGS4	O13F1_HUMAN	olfactory receptor, family 13, subfamily F, member 1	242						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T242M(1)		endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						TCAACGTGCACAGCCCACCTGA	0.46																																							uc011lvm.1		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)|skin(1)	3						c.(724-726)ACA>ATG		olfactory receptor, family 13, subfamily F,																																				SO:0001583	missense	138805				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107267268_107267269CA>TG		CCDS35087.1	9q31.1	2013-09-24			ENSG00000186881	ENSG00000186881		"""GPCR / Class A : Olfactory receptors"""	14723	protein-coding gene	gene with protein product							Standard	NM_001004485		Approved		uc011lvm.2	Q8NGS4	OTTHUMG00000020404	Exception_encountered	9.37:g.107267268_107267269delinsTG	ENSP00000334452:p.Thr242Met						p.T242M	NM_001004485	NP_001004485	Q8NGS4	O13F1_HUMAN			1	725_726	+			242			Helical; Name=6; (Potential).		Q6IF50	Missense_Mutation	DNP	ENST00000334726.2	37	c.725_726CA>TG	CCDS35087.1																																																																																				0.460	OR13F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053475.1			39	58	0	0	0	0.004672	0	39	58				
OR13C8	138802	broad.mit.edu	37	9	107331656	107331656	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr9:107331656G>T	ENST00000335040.1	+	1	208	c.208G>T	c.(208-210)Gac>Tac	p.D70Y		NM_001004483.1	NP_001004483.1	Q8NGS7	O13C8_HUMAN	olfactory receptor, family 13, subfamily C, member 8	70						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.D70Y(1)		NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						TTCCTTCCTCGACGTTTGCTA	0.428																																							uc011lvo.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(208-210)GAC>TAC		olfactory receptor, family 13, subfamily C,							282.0	264.0	270.0					9																	107331656		2203	4300	6503	SO:0001583	missense	138802				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107331656G>T		CCDS35090.1	9q31.1	2013-09-24			ENSG00000186943	ENSG00000186943		"""GPCR / Class A : Olfactory receptors"""	15103	protein-coding gene	gene with protein product							Standard	NM_001004483		Approved		uc011lvo.2	Q8NGS7	OTTHUMG00000020409	ENST00000335040.1:c.208G>T	9.37:g.107331656G>T	ENSP00000334068:p.Asp70Tyr						p.D70Y	NM_001004483	NP_001004483	Q8NGS7	O13C8_HUMAN			1	208	+			70			Helical; Name=2; (Potential).		Q5VVG0|Q96R44	Missense_Mutation	SNP	ENST00000335040.1	37	c.208G>T	CCDS35090.1	.	.	.	.	.	.	.	.	.	.	G	11.56	1.675053	0.29783	.	.	ENSG00000186943	ENST00000335040	T	0.01185	5.21	5.18	5.18	0.71444	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000010	T	0.14527	0.0351	H	0.98918	4.37	0.35280	D	0.781287	D	0.76494	0.999	D	0.66716	0.946	T	0.43376	-0.9395	10	0.87932	D	0	.	16.576	0.84648	0.0:0.0:1.0:0.0	.	70	Q8NGS7	O13C8_HUMAN	Y	70	ENSP00000334068:D70Y	ENSP00000334068:D70Y	D	+	1	0	OR13C8	106371477	1.000000	0.71417	1.000000	0.80357	0.142000	0.21351	4.218000	0.58554	2.850000	0.98022	0.655000	0.94253	GAC		0.428	OR13C8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053480.1			48	140	1	0	4.18559e-23	0.00361	7.53111e-23	48	140				
OR13C8	138802	broad.mit.edu	37	9	107331807	107331807	+	Missense_Mutation	SNP	T	T	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr9:107331807T>A	ENST00000335040.1	+	1	359	c.359T>A	c.(358-360)cTg>cAg	p.L120Q		NM_001004483.1	NP_001004483.1	Q8NGS7	O13C8_HUMAN	olfactory receptor, family 13, subfamily C, member 8	120						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L120Q(1)		NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						ACGATGGCACTGGACCGCTAT	0.527																																							uc011lvo.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(358-360)CTG>CAG		olfactory receptor, family 13, subfamily C,							110.0	95.0	100.0					9																	107331807		2203	4300	6503	SO:0001583	missense	138802				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107331807T>A		CCDS35090.1	9q31.1	2013-09-24			ENSG00000186943	ENSG00000186943		"""GPCR / Class A : Olfactory receptors"""	15103	protein-coding gene	gene with protein product							Standard	NM_001004483		Approved		uc011lvo.2	Q8NGS7	OTTHUMG00000020409	ENST00000335040.1:c.359T>A	9.37:g.107331807T>A	ENSP00000334068:p.Leu120Gln						p.L120Q	NM_001004483	NP_001004483	Q8NGS7	O13C8_HUMAN			1	359	+			120			Helical; Name=3; (Potential).		Q5VVG0|Q96R44	Missense_Mutation	SNP	ENST00000335040.1	37	c.359T>A	CCDS35090.1	.	.	.	.	.	.	.	.	.	.	T	12.73	2.025779	0.35701	.	.	ENSG00000186943	ENST00000335040	T	0.13657	2.57	5.18	3.97	0.46021	GPCR, rhodopsin-like superfamily (1);	0.264710	0.27076	N	0.021056	T	0.13329	0.0323	L	0.48877	1.53	0.30998	N	0.720698	P	0.47962	0.903	B	0.42738	0.396	T	0.06807	-1.0806	10	0.87932	D	0	.	7.8134	0.29245	0.269:0.0:0.0:0.731	.	120	Q8NGS7	O13C8_HUMAN	Q	120	ENSP00000334068:L120Q	ENSP00000334068:L120Q	L	+	2	0	OR13C8	106371628	0.002000	0.14202	0.998000	0.56505	0.203000	0.24098	0.610000	0.24253	2.299000	0.77371	0.533000	0.62120	CTG		0.527	OR13C8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053480.1			20	25	0	0	0	0.008871	0	20	25				
RGS3	5998	broad.mit.edu	37	9	116279846	116279846	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr9:116279846G>A	ENST00000374140.2	+	17	1909	c.1700G>A	c.(1699-1701)cGg>cAg	p.R567Q	RGS3_ENST00000343817.5_Missense_Mutation_p.R286Q|RGS3_ENST00000317613.6_Missense_Mutation_p.R455Q|RGS3_ENST00000394646.3_Missense_Mutation_p.R286Q|RGS3_ENST00000374136.1_Missense_Mutation_p.R193Q|RGS3_ENST00000350696.5_Missense_Mutation_p.R567Q	NM_001282923.1|NM_144488.4	NP_001269852.1|NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	567					inactivation of MAPK activity (GO:0000188)|positive regulation of GTPase activity (GO:0043547)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)	p.R463Q(1)|p.R567Q(1)|p.R455Q(1)		cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						AATCCTGCCCGGACCCTCCTG	0.557																																							uc004bhq.2		NA																	3	Substitution - Missense(3)		lung(3)	ovary(1)|lung(1)|skin(1)	3						c.(1699-1701)CGG>CAG		regulator of G-protein signalling 3 isoform 6							96.0	93.0	94.0					9																	116279846		2203	4300	6503	SO:0001583	missense	5998				inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity	g.chr9:116279846G>A	AF006610	CCDS6797.1, CCDS6798.1, CCDS35113.1, CCDS35114.1, CCDS43869.1, CCDS65111.1	9q32	2008-02-05	2007-08-14		ENSG00000138835	ENSG00000138835		"""Regulators of G-protein signaling"""	9999	protein-coding gene	gene with protein product		602189	"""regulator of G-protein signalling 3"""			8602223, 11034339	Standard	NM_001276260		Approved	C2PA, FLJ20370, PDZ-RGS3	uc004bhq.4	P49796	OTTHUMG00000021048	ENST00000374140.2:c.1700G>A	9.37:g.116279846G>A	ENSP00000363255:p.Arg567Gln					RGS3_uc004bhr.2_Missense_Mutation_p.R455Q|RGS3_uc004bhs.2_Missense_Mutation_p.R457Q|RGS3_uc004bht.2_Missense_Mutation_p.R286Q|RGS3_uc010muy.2_Missense_Mutation_p.R286Q|RGS3_uc004bhu.2_Missense_Mutation_p.R193Q	p.R567Q	NM_144488	NP_652759	P49796	RGS3_HUMAN			17	1909	+			567					A6NHA0|A8K0V1|B3KUB2|Q5VXB8|Q5VXC1|Q5VZ05|Q5VZ06|Q6ZRM5|Q8IUQ1|Q8NC47|Q8NFN4|Q8NFN5|Q8NFN6|Q8TD59|Q8TD68|Q8WV02|Q8WXA0	Missense_Mutation	SNP	ENST00000374140.2	37	c.1700G>A	CCDS43869.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.203678	0.79127	.	.	ENSG00000138835	ENST00000374140;ENST00000350696;ENST00000317613;ENST00000343817;ENST00000394646;ENST00000374136	T;T;T;T;T;T	0.74209	-0.82;-0.82;-0.82;-0.82;-0.82;-0.82	4.71	3.81	0.43845	Pleckstrin homology-type (1);	0.067868	0.64402	N	0.000008	T	0.77068	0.4076	L	0.36672	1.1	0.80722	D	1	B;D;D;D;D;D	0.89917	0.059;0.991;1.0;0.999;0.993;0.997	B;P;D;P;P;P	0.64410	0.003;0.452;0.925;0.884;0.534;0.776	T	0.77822	-0.2445	10	0.87932	D	0	.	10.1561	0.42823	0.0931:0.0:0.9069:0.0	.	286;193;286;457;455;567	B3KUB2;Q5VXC0;P49796-4;B3KWG8;P49796-5;P49796	.;.;.;.;.;RGS3_HUMAN	Q	567;567;455;286;286;193	ENSP00000363255:R567Q;ENSP00000259406:R567Q;ENSP00000312844:R455Q;ENSP00000340284:R286Q;ENSP00000378141:R286Q;ENSP00000363251:R193Q	ENSP00000312844:R455Q	R	+	2	0	RGS3	115319667	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	6.920000	0.75799	0.975000	0.38392	0.462000	0.41574	CGG		0.557	RGS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055561.3	NM_017790		3	47	0	0	0	0.009096	0	3	47				
ASTN2	23245	broad.mit.edu	37	9	119488128	119488128	+	Missense_Mutation	SNP	A	A	G			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr9:119488128A>G	ENST00000313400.4	-	16	2828	c.2728T>C	c.(2728-2730)Tat>Cat	p.Y910H	ASTN2_ENST00000373996.3_Missense_Mutation_p.Y906H|ASTN2_ENST00000361209.2_Missense_Mutation_p.Y859H|ASTN2_ENST00000361477.3_5'UTR			O75129	ASTN2_HUMAN	astrotactin 2	910					negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)		p.Y859H(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						TCTGAGCCATAGAGGGCCTCT	0.547																																							uc004bjs.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(4)|ovary(3)|breast(1)|kidney(1)	9						c.(2728-2730)TAT>CAT		astrotactin 2 isoform c							181.0	165.0	170.0					9																	119488128		2203	4300	6503	SO:0001583	missense	23245					integral to membrane		g.chr9:119488128A>G	AF116574	CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1	9q33	2008-02-05			ENSG00000148219	ENSG00000148219			17021	protein-coding gene	gene with protein product		612856				9734811	Standard	NM_014010		Approved	KIAA0634	uc004bjt.2	O75129	OTTHUMG00000021013	ENST00000313400.4:c.2728T>C	9.37:g.119488128A>G	ENSP00000314038:p.Tyr910His					ASTN2_uc004bjr.1_Missense_Mutation_p.Y906H|ASTN2_uc004bjt.1_Missense_Mutation_p.Y859H	p.Y910H	NM_198187	NP_937830	O75129	ASTN2_HUMAN			16	2829	-			910			Extracellular (Potential).		A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	Missense_Mutation	SNP	ENST00000313400.4	37	c.2728T>C		.	.	.	.	.	.	.	.	.	.	A	18.41	3.617539	0.66787	.	.	ENSG00000148219	ENST00000313400;ENST00000373996;ENST00000373986;ENST00000361209	T;T;T;T	0.56941	0.43;0.43;0.43;0.43	5.93	5.93	0.95920	Membrane attack complex component/perforin (MACPF) domain (2);	0.000000	0.85682	D	0.000000	T	0.70211	0.3198	M	0.63843	1.955	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.996	T	0.69510	-0.5126	9	.	.	.	-15.4599	16.3797	0.83452	1.0:0.0:0.0:0.0	.	859;910;906	O75129-2;O75129;O75129-3	.;ASTN2_HUMAN;.	H	910;906;633;859	ENSP00000314038:Y910H;ENSP00000363108:Y906H;ENSP00000363098:Y633H;ENSP00000354504:Y859H	.	Y	-	1	0	ASTN2	118527949	1.000000	0.71417	0.891000	0.34965	0.820000	0.46376	9.300000	0.96151	2.271000	0.75665	0.533000	0.62120	TAT		0.547	ASTN2-201	KNOWN	basic	protein_coding	protein_coding		NM_014010		16	109	0	0	0	0.004007	0	16	109				
ASTN2	23245	broad.mit.edu	37	9	119625959	119625959	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr9:119625959G>C	ENST00000313400.4	-	11	2043	c.1943C>G	c.(1942-1944)tCc>tGc	p.S648C	ASTN2_ENST00000361209.2_Missense_Mutation_p.S597C|ASTN2_ENST00000373996.3_Missense_Mutation_p.S644C|ASTN2_ENST00000361477.3_5'UTR			O75129	ASTN2_HUMAN	astrotactin 2	648					negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)		p.S597C(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						TGGCCCGAAGGAAGACAGCAG	0.522																																							uc004bjs.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(4)|ovary(3)|breast(1)|kidney(1)	9						c.(1942-1944)TCC>TGC		astrotactin 2 isoform c							119.0	95.0	103.0					9																	119625959		2203	4300	6503	SO:0001583	missense	23245					integral to membrane		g.chr9:119625959G>C	AF116574	CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1	9q33	2008-02-05			ENSG00000148219	ENSG00000148219			17021	protein-coding gene	gene with protein product		612856				9734811	Standard	NM_014010		Approved	KIAA0634	uc004bjt.2	O75129	OTTHUMG00000021013	ENST00000313400.4:c.1943C>G	9.37:g.119625959G>C	ENSP00000314038:p.Ser648Cys					ASTN2_uc004bjr.1_Missense_Mutation_p.S644C|ASTN2_uc004bjt.1_Missense_Mutation_p.S597C	p.S648C	NM_198187	NP_937830	O75129	ASTN2_HUMAN			11	2044	-			648			Extracellular (Potential).		A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	Missense_Mutation	SNP	ENST00000313400.4	37	c.1943C>G		.	.	.	.	.	.	.	.	.	.	G	20.3	3.962050	0.74016	.	.	ENSG00000148219	ENST00000313400;ENST00000373996;ENST00000373986;ENST00000361209	T;T;T;T	0.19938	2.27;2.26;2.11;2.33	5.71	5.71	0.89125	.	0.064020	0.64402	D	0.000005	T	0.38026	0.1025	L	0.34521	1.04	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.97110	0.998;0.993;1.0	T	0.02214	-1.1194	9	.	.	.	-23.3481	19.8381	0.96666	0.0:0.0:1.0:0.0	.	597;648;644	O75129-2;O75129;O75129-3	.;ASTN2_HUMAN;.	C	648;644;371;597	ENSP00000314038:S648C;ENSP00000363108:S644C;ENSP00000363098:S371C;ENSP00000354504:S597C	.	S	-	2	0	ASTN2	118665780	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	9.429000	0.97481	2.690000	0.91761	0.655000	0.94253	TCC		0.522	ASTN2-201	KNOWN	basic	protein_coding	protein_coding		NM_014010		17	15	0	0	0	0.00499	0	17	15				
OR1Q1	158131	broad.mit.edu	37	9	125377093	125377093	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr9:125377093C>T	ENST00000297913.2	+	1	146	c.77C>T	c.(76-78)cCa>cTa	p.P26L	RP11-64P14.7_ENST00000431442.1_RNA	NM_012364.1	NP_036496.1	Q15612	OR1Q1_HUMAN	olfactory receptor, family 1, subfamily Q, member 1	26					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P26L(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)	17						GAGCAAATCCCACTCTTCCTT	0.468																																							uc011lyy.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(76-78)CCA>CTA		olfactory receptor, family 1, subfamily Q,							215.0	196.0	202.0					9																	125377093		2203	4300	6503	SO:0001583	missense	158131				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125377093C>T		CCDS35125.1	9q33.2	2013-09-20			ENSG00000165202	ENSG00000165202		"""GPCR / Class A : Olfactory receptors"""	8223	protein-coding gene	gene with protein product				OR1Q2, OR1Q3			Standard	NM_012364		Approved	OST226, OR9-A, HSTPCR106, OST226OR9-A, TPCR106	uc011lyy.2	Q15612	OTTHUMG00000020615	ENST00000297913.2:c.77C>T	9.37:g.125377093C>T	ENSP00000297913:p.Pro26Leu						p.P26L	NM_012364	NP_036496	Q15612	OR1Q1_HUMAN			1	77	+			26			Helical; Name=1; (Potential).		Q6IFN4|Q8NGR7|Q96R82	Missense_Mutation	SNP	ENST00000297913.2	37	c.77C>T	CCDS35125.1	.	.	.	.	.	.	.	.	.	.	C	3.586	-0.084565	0.07097	.	.	ENSG00000165202	ENST00000297913	T	0.00036	8.86	5.43	3.53	0.40419	.	0.000000	0.49305	D	0.000158	T	0.00039	0.0001	N	0.00462	-1.47	0.42438	D	0.992707	B	0.21753	0.06	B	0.14023	0.01	T	0.05386	-1.0888	10	0.02654	T	1	-5.5738	7.4134	0.27029	0.0:0.7047:0.1405:0.1548	.	26	Q15612	OR1Q1_HUMAN	L	26	ENSP00000297913:P26L	ENSP00000297913:P26L	P	+	2	0	OR1Q1	124416914	0.000000	0.05858	0.807000	0.32361	0.899000	0.52679	0.092000	0.15066	1.531000	0.49152	0.655000	0.94253	CCA		0.468	OR1Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053946.1			45	59	0	0	0	0.00361	0	45	59				
FPGS	2356	broad.mit.edu	37	9	130569352	130569352	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr9:130569352C>A	ENST00000373247.2	+	5	537	c.487C>A	c.(487-489)Ctg>Atg	p.L163M	FPGS_ENST00000373225.3_Missense_Mutation_p.L113M|FPGS_ENST00000460181.1_3'UTR|FPGS_ENST00000373245.1_Missense_Mutation_p.L163M|FPGS_ENST00000393706.2_Missense_Mutation_p.L163M	NM_004957.4	NP_004948.4	Q05932	FOLC_HUMAN	folylpolyglutamate synthase	163					brain development (GO:0007420)|folic acid metabolic process (GO:0046655)|liver development (GO:0001889)|nucleobase-containing compound metabolic process (GO:0006139)|one-carbon metabolic process (GO:0006730)|organ regeneration (GO:0031100)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|tetrahydrofolylpolyglutamate synthase activity (GO:0004326)	p.L163M(1)		endometrium(2)|kidney(1)|lung(3)|ovary(1)	7					Methotrexate(DB00563)|Pralatrexate(DB06813)|Raltitrexed(DB00293)	CTACCACCGGCTGGAGGAGAC	0.637																																							uc004bsg.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(487-489)CTG>ATG		folylpolyglutamate synthase isoform a precursor	L-Glutamic Acid(DB00142)						65.0	62.0	63.0					9																	130569352		2203	4300	6503	SO:0001583	missense	2356				folic acid metabolic process|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|one-carbon metabolic process	cytosol|mitochondrial matrix	ATP binding|tetrahydrofolylpolyglutamate synthase activity	g.chr9:130569352C>A		CCDS35148.1, CCDS35149.1, CCDS75905.1	9q34.11	2013-09-19			ENSG00000136877	ENSG00000136877	6.3.2.17		3824	protein-coding gene	gene with protein product		136510					Standard	NM_004957		Approved		uc004bsg.1	Q05932	OTTHUMG00000020716	ENST00000373247.2:c.487C>A	9.37:g.130569352C>A	ENSP00000362344:p.Leu163Met					FPGS_uc004bsh.1_Translation_Start_Site|FPGS_uc011mal.1_Missense_Mutation_p.L163M|FPGS_uc004bsi.1_Missense_Mutation_p.L113M	p.L163M	NM_004957	NP_004948	Q05932	FOLC_HUMAN			5	537	+			163					B3KPW4|B7Z2Z3|F5H0K6|Q5JU19|Q5JU22|Q6P2P6	Missense_Mutation	SNP	ENST00000373247.2	37	c.487C>A	CCDS35148.1	.	.	.	.	.	.	.	.	.	.	c	20.3	3.971613	0.74246	.	.	ENSG00000136877	ENST00000373247;ENST00000373245;ENST00000393706;ENST00000373228;ENST00000373225;ENST00000431857;ENST00000423577	T;T;T;T;T	0.39787	2.42;1.06;2.66;1.06;2.03	5.45	5.45	0.79879	Mur ligase, central (2);	0.000000	0.85682	D	0.000000	T	0.55721	0.1938	M	0.68593	2.085	0.58432	D	0.999999	D;D	0.67145	0.996;0.996	P;P	0.61800	0.894;0.894	T	0.59220	-0.7495	10	0.72032	D	0.01	-5.4057	8.4399	0.32810	0.1545:0.7667:0.0:0.0788	.	163;163	Q05932-4;Q05932	.;FOLC_HUMAN	M	163;163;163;163;113;113;113	ENSP00000362344:L163M;ENSP00000362342:L163M;ENSP00000377309:L163M;ENSP00000362325:L163M;ENSP00000362322:L113M	ENSP00000362322:L113M	L	+	1	2	FPGS	129609173	0.997000	0.39634	1.000000	0.80357	0.922000	0.55478	2.596000	0.46205	2.582000	0.87167	0.450000	0.29827	CTG		0.637	FPGS-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054251.1			8	56	1	0	0.00307968	0.00308	0.00329919	8	56				
NAIF1	203245	broad.mit.edu	37	9	130825873	130825873	+	Missense_Mutation	SNP	T	T	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr9:130825873T>A	ENST00000373078.4	-	2	1037	c.818A>T	c.(817-819)cAg>cTg	p.Q273L	NAIF1_ENST00000488519.1_5'UTR	NM_197956.3	NP_931045.1	Q69YI7	NAIF1_HUMAN	nuclear apoptosis inducing factor 1	273					negative regulation of cell growth (GO:0030308)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.Q273L(1)		central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CTCCATGGCCTGGGCCTGGCG	0.617																																							uc004bta.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(817-819)CAG>CTG		nuclear apoptosis inducing factor 1							80.0	73.0	76.0					9																	130825873		2203	4300	6503	SO:0001583	missense	203245				apoptosis|induction of apoptosis	nucleus		g.chr9:130825873T>A	AK122729	CCDS6889.1	9q34.11	2008-04-10	2008-04-10	2008-04-10	ENSG00000171169	ENSG00000171169			25446	protein-coding gene	gene with protein product	"""nuclear apoptosis-inducing factor 1"""	610673	"""chromosome 9 open reading frame 90"""	C9orf90		14702039, 16378748	Standard	NM_197956		Approved	DKFZp762G199, bA379C10.2	uc004bta.3	Q69YI7	OTTHUMG00000020727	ENST00000373078.4:c.818A>T	9.37:g.130825873T>A	ENSP00000362170:p.Gln273Leu					NAIF1_uc004bsz.2_RNA	p.Q273L	NM_197956	NP_931045	Q69YI7	NAIF1_HUMAN			2	1037	-			273					B3KV81|Q8WU12	Missense_Mutation	SNP	ENST00000373078.4	37	c.818A>T	CCDS6889.1	.	.	.	.	.	.	.	.	.	.	T	21.9	4.213045	0.79352	.	.	ENSG00000171169	ENST00000373078	.	.	.	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.61148	0.2324	L	0.29908	0.895	0.80722	D	1	D	0.54601	0.967	P	0.62382	0.901	T	0.56848	-0.7911	9	0.22109	T	0.4	-1.2474	14.3476	0.66678	0.0:0.0:0.0:1.0	.	273	Q69YI7	NAIF1_HUMAN	L	273	.	ENSP00000362170:Q273L	Q	-	2	0	NAIF1	129865694	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.474000	0.81024	1.983000	0.57843	0.460000	0.39030	CAG		0.617	NAIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054330.1	NM_197956		22	30	0	0	0	0.00278	0	22	30				
WDR34	89891	broad.mit.edu	37	9	131398630	131398630	+	Silent	SNP	C	C	T	rs376954350		TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr9:131398630C>T	ENST00000372715.2	-	4	693	c.633G>A	c.(631-633)tcG>tcA	p.S211S	WDR34_ENST00000483181.1_5'Flank	NM_052844.3	NP_443076.2	Q96EX3	WDR34_HUMAN	WD repeat domain 34	211						axoneme (GO:0005930)|centriole (GO:0005814)|ciliary basal body (GO:0036064)		p.S211S(1)		central_nervous_system(2)|lung(5)|skin(1)|urinary_tract(1)	9						CCACCACGGCCGACGGCTGCT	0.677																																							uc004bvq.1		NA																	1	Substitution - coding silent(1)		lung(1)	central_nervous_system(2)|skin(1)	3						c.(631-633)TCG>TCA		WD repeat domain 34		C		0,4402		0,0,2201	55.0	47.0	50.0		633	-6.6	0.0	9		50	1,8591		0,1,4295	no	coding-synonymous	WDR34	NM_052844.3		0,1,6496	TT,TC,CC		0.0116,0.0,0.0077		211/537	131398630	1,12993	2201	4296	6497	SO:0001819	synonymous_variant	89891					cytoplasm		g.chr9:131398630C>T	BC011874	CCDS6906.2	9q34.11	2013-11-15	2013-02-19	2013-02-19	ENSG00000119333	ENSG00000119333		"""WD repeat domain containing"""	28296	protein-coding gene	gene with protein product		613363				19521662, 21953912, 24183451	Standard	NM_052844		Approved	DIC5, MGC20486, bA216B9.3, FAP133	uc004bvq.1	Q96EX3	OTTHUMG00000020750	ENST00000372715.2:c.633G>A	9.37:g.131398630C>T						WDR34_uc004bvs.1_Silent_p.S202S|WDR34_uc004bvr.1_Silent_p.S211S|WDR34_uc011mbi.1_Silent_p.S94S	p.S211S	NM_052844	NP_443076	Q96EX3	WDR34_HUMAN			4	757	-			211					Q5VXV4|Q9BV46	Silent	SNP	ENST00000372715.2	37	c.633G>A	CCDS6906.2																																																																																				0.677	WDR34-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054463.1	NM_052844		4	9	0	0	0	0.009096	0	4	9				
TSC1	7248	broad.mit.edu	37	9	135797337	135797337	+	Missense_Mutation	SNP	C	C	G	rs118203395		TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr9:135797337C>G	ENST00000298552.3	-	7	753	c.532G>C	c.(532-534)Gtc>Ctc	p.V178L	TSC1_ENST00000403810.1_Missense_Mutation_p.V178L|TSC1_ENST00000475903.1_5'UTR|TSC1_ENST00000440111.2_Missense_Mutation_p.V178L|TSC1_ENST00000545250.1_Missense_Mutation_p.V127L	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN	tuberous sclerosis 1	178					activation of Rho GTPase activity (GO:0032862)|cardiac muscle cell differentiation (GO:0055007)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|cerebral cortex development (GO:0021987)|hippocampus development (GO:0021766)|insulin receptor signaling pathway (GO:0008286)|kidney development (GO:0001822)|myelination (GO:0042552)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of TOR signaling (GO:0032007)|negative regulation of translation (GO:0017148)|neural tube closure (GO:0001843)|positive regulation of focal adhesion assembly (GO:0051894)|potassium ion transport (GO:0006813)|protein heterooligomerization (GO:0051291)|protein stabilization (GO:0050821)|regulation of cell cycle (GO:0051726)|regulation of cell-matrix adhesion (GO:0001952)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of protein kinase activity (GO:0045859)|regulation of stress fiber assembly (GO:0051492)|regulation of translation (GO:0006417)|response to insulin (GO:0032868)|rRNA export from nucleus (GO:0006407)|synapse organization (GO:0050808)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|lamellipodium (GO:0030027)|membrane (GO:0016020)|protein complex (GO:0043234)|TSC1-TSC2 complex (GO:0033596)	chaperone binding (GO:0051087)|GTPase regulator activity (GO:0030695)|protein N-terminus binding (GO:0047485)	p.V178L(1)|p.?(1)		NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		TGGAGATGGACGAGATAGACT	0.463			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis																														uc004cca.2		NA	yes	Rec		Tuberous sclerosis 1	9	9q34	7248	D|Mis|N|F|S	tuberous sclerosis 1 gene			"""E, O"""		hamartoma|renal cell			2	Substitution - Missense(1)|Unknown(1)		lung(1)|bone(1)	lung(4)|central_nervous_system(3)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|urinary_tract(1)|skin(1)|ovary(1)|bone(1)	14						c.(532-534)GTC>CTC		tuberous sclerosis 1 protein isoform 1							116.0	109.0	112.0					9																	135797337		2203	4300	6503	SO:0001583	missense	7248	Tuberous_Sclerosis	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus	cell cortex|lamellipodium|membrane|TSC1-TSC2 complex	chaperone binding|protein N-terminus binding	g.chr9:135797337C>G	AF013168	CCDS6956.1, CCDS55350.1	9q34	2014-09-17			ENSG00000165699	ENSG00000165699			12362	protein-coding gene	gene with protein product		605284		TSC		9242607, 10806479	Standard	NM_000368		Approved	KIAA0243, LAM, hamartin	uc004cca.2	Q92574	OTTHUMG00000020844	ENST00000298552.3:c.532G>C	9.37:g.135797337C>G	ENSP00000298552:p.Val178Leu					TSC1_uc004ccb.3_Missense_Mutation_p.V178L|TSC1_uc011mcq.1_Missense_Mutation_p.V127L|TSC1_uc011mcr.1_Missense_Mutation_p.V57L|TSC1_uc011mcs.1_Missense_Mutation_p.V57L|TSC1_uc004ccc.1_Missense_Mutation_p.V178L|TSC1_uc004ccd.2_Missense_Mutation_p.V178L|TSC1_uc004cce.1_Missense_Mutation_p.V178L	p.V178L	NM_000368	NP_000359	Q92574	TSC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)	7	766	-			178					B7Z897|Q5VVN5	Missense_Mutation	SNP	ENST00000298552.3	37	c.532G>C	CCDS6956.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.608905	0.87258	.	.	ENSG00000165699	ENST00000298552;ENST00000440111;ENST00000545250;ENST00000537172;ENST00000424271;ENST00000403810	D;D;D;D;D	0.88664	-2.41;-2.41;-2.41;-2.41;-2.41	6.08	6.08	0.98989	.	0.050146	0.85682	D	0.000000	D	0.89146	0.6632	L	0.40543	1.245	0.47407	D	0.999419	D;B;P;P;P;B	0.53619	0.961;0.118;0.545;0.729;0.792;0.186	P;B;B;B;B;B	0.50378	0.639;0.154;0.166;0.228;0.336;0.154	D	0.86992	0.2111	10	0.33141	T	0.24	-17.5413	19.6603	0.95864	0.0:1.0:0.0:0.0	.	57;127;178;178;178;178	B7Z604;B7Z897;Q86WV8;Q59IT9;Q32NF0;Q92574	.;.;.;.;.;TSC1_HUMAN	L	178;178;127;57;57;178	ENSP00000298552:V178L;ENSP00000394524:V178L;ENSP00000444017:V127L;ENSP00000438099:V57L;ENSP00000386093:V178L	ENSP00000298552:V178L	V	-	1	0	TSC1	134787158	1.000000	0.71417	0.997000	0.53966	0.967000	0.64934	4.543000	0.60684	2.894000	0.99253	0.591000	0.81541	GTC		0.463	TSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054799.1			32	34	0	0	0	0.002096	0	32	34				
GFI1B	8328	broad.mit.edu	37	9	135864468	135864468	+	Silent	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr9:135864468G>T	ENST00000339463.3	+	9	1350	c.531G>T	c.(529-531)ggG>ggT	p.G177G	GFI1B_ENST00000534944.1_Intron|GFI1B_ENST00000372122.1_Silent_p.G177G|GFI1B_ENST00000372124.1_Intron|GFI1B_ENST00000372123.1_Intron|GFI1B_ENST00000450530.1_Silent_p.G177G			Q5VTD9	GFI1B_HUMAN	growth factor independent 1B transcription repressor	177	Interaction with ARIH2.|Mediates interaction with GATA1.				cell proliferation (GO:0008283)|chromatin modification (GO:0016568)|multicellular organismal development (GO:0007275)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of histone H3-K9 methylation (GO:0051574)|regulation of erythrocyte differentiation (GO:0045646)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear matrix (GO:0016363)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II transcription factor binding (GO:0001085)	p.G177G(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;9.04e-07)|Epithelial(140;1.17e-05)		CCCCTCACGGGCTCGAAGTGC	0.652																																							uc004ccg.2		NA																	1	Substitution - coding silent(1)		lung(1)	large_intestine(1)|ovary(1)|central_nervous_system(1)	3						c.(529-531)GGG>GGT		growth factor independent 1B transcription							64.0	50.0	55.0					9																	135864468		2203	4300	6503	SO:0001819	synonymous_variant	8328				cell proliferation|chromatin modification|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|zinc ion binding	g.chr9:135864468G>T	AF081946	CCDS6957.1, CCDS48049.1	9q34.13	2014-09-17	2007-10-04		ENSG00000165702	ENSG00000165702		"""Zinc fingers, C2H2-type"""	4238	protein-coding gene	gene with protein product		604383	"""growth factor independent 1B (potential regulator of CDKN1A, translocated in CML)"""			9878267	Standard	NM_001135031		Approved		uc004ccg.3	Q5VTD9	OTTHUMG00000020848	ENST00000339463.3:c.531G>T	9.37:g.135864468G>T						GFI1B_uc010mzy.2_Intron	p.G177G	NM_004188	NP_004179	Q5VTD9	GFI1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;9.04e-07)|Epithelial(140;1.17e-05)	5	682	+			177			C2H2-type 1.|Mediates interaction with GATA1.|Interaction with ARIH2.		O95270|Q5VTD8|Q6FHZ2|Q6T888	Silent	SNP	ENST00000339463.3	37	c.531G>T	CCDS6957.1																																																																																				0.652	GFI1B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393840.1	NM_004188		7	17	1	0	8.12818e-05	0.001984	9.14868e-05	7	17				
ABO	28	broad.mit.edu	37	9	136131636	136131636	+	RNA	SNP	C	C	T	rs8176738	byFrequency	TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr9:136131636C>T	ENST00000453660.2	-	0	492				RP11-430N14.4_ENST00000606717.1_RNA			P16442	BGAT_HUMAN	ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase)						protein glycosylation (GO:0006486)	extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	fucosylgalactoside 3-alpha-galactosyltransferase activity (GO:0004381)|glycoprotein-fucosylgalactoside alpha-N-acetylgalactosaminyltransferase activity (GO:0004380)|metal ion binding (GO:0046872)	p.R160H(1)		central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|prostate(1)|stomach(2)	11				OV - Ovarian serous cystadenocarcinoma(145;5.82e-06)|Epithelial(140;3.45e-05)		CAGCGTCACGCGGGGCACCGC	0.647													C|||	3	0.000599042	0.0023	0.0	5008	,	,		14796	0.0		0.0	False		,,,				2504	0.0						uc004cda.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(481-483)CGC>CAC		ABO blood group (alpha		C	HIS/ARG	13,3951		0,13,1969	24.0	26.0	25.0		481	-9.4	0.0	9	dbSNP_117	25	7,8275		0,7,4134	yes	missense	ABO	NM_020469.2	29	0,20,6103	TT,TC,CC		0.0845,0.328,0.1633	benign	161/355	136131636	20,12226	1982	4141	6123			28				protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	fucosylgalactoside 3-alpha-galactosyltransferase activity|glycoprotein-fucosylgalactoside alpha-N-acetylgalactosaminyltransferase activity|metal ion binding	g.chr9:136131636C>T	AF134415		9q34.2	2014-07-19			ENSG00000175164	ENSG00000175164	2.4.1.40, 2.4.1.37	"""Blood group antigens"", ""Glycosyltransferase family 6 domain containing"""	79	protein-coding gene	gene with protein product		110300				184030	Standard	NM_020469		Approved	A3GALNT, A3GALT1	uc004cda.1	P16442	OTTHUMG00000020872		9.37:g.136131636C>T						ABO_uc010naf.1_Missense_Mutation_p.R20H|ABO_uc011mcz.1_Missense_Mutation_p.R20H|ABO_uc010nag.1_Missense_Mutation_p.R20H	p.R161H	NM_020469	NP_065202	P16442	BGAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.82e-06)|Epithelial(140;3.45e-05)	8	507	-			161			Lumenal (Potential).		B0JDB9|O14758|Q14490|Q53I57|Q6ISD4|Q6KFZ2|Q70V27|Q99484|Q99485|Q9NY01|Q9UQ68|Q9UQ69	Missense_Mutation	SNP	ENST00000453660.2	37	c.482G>A																																																																																					0.647	ABO-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000054907.4	NM_020469		5	16	0	0	0	0.000602	0	5	16				
SLC34A3	142680	broad.mit.edu	37	9	140126579	140126579	+	Silent	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr9:140126579C>A	ENST00000538474.1	+	3	365	c.141C>A	c.(139-141)ctC>ctA	p.L47L	SLC34A3_ENST00000361134.2_Silent_p.L47L	NM_001177316.1|NM_001177317.1	NP_001170787|NP_001170788	Q8N130	NPT2C_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 3	47					cellular phosphate ion homeostasis (GO:0030643)|ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border (GO:0005903)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:phosphate symporter activity (GO:0005436)	p.L47L(1)		kidney(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		CCTGGACCCTCCCTCAGCTGA	0.627																																							uc004cmf.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(139-141)CTC>CTA		solute carrier family 34 (sodium phosphate),							105.0	109.0	108.0					9																	140126579		2203	4299	6502	SO:0001819	synonymous_variant	142680				cellular phosphate ion homeostasis	apical plasma membrane|integral to membrane	sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity	g.chr9:140126579C>A	AB055000	CCDS7038.1	9q34.3	2013-07-17	2013-07-17		ENSG00000198569	ENSG00000198569		"""Solute carriers"""	20305	protein-coding gene	gene with protein product		609826	"""solute carrier family 34 (sodium phosphate), member 3"""			11880379, 16358215, 16358214	Standard	NM_080877		Approved	NPTIIc, FLJ38680	uc004cmf.1	Q8N130	OTTHUMG00000131780	ENST00000538474.1:c.141C>A	9.37:g.140126579C>A						SLC34A3_uc004cmc.1_5'UTR|SLC34A3_uc004cmd.1_Silent_p.L47L|SLC34A3_uc011met.1_Silent_p.L47L	p.L47L	NM_080877	NP_543153	Q8N130	NPT2C_HUMAN	STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)	3	327	+	all_cancers(76;0.0926)		47			Cytoplasmic (Potential).		A2BFA1	Silent	SNP	ENST00000538474.1	37	c.141C>A	CCDS7038.1																																																																																				0.627	SLC34A3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254712.1	NM_080877		40	54	1	0	4.67007e-22	0.00874	8.24319e-22	40	54				
PPP2R3B	28227	broad.mit.edu	37	X	347161	347161	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chrX:347161G>C	ENST00000390665.3	-	1	284	c.266C>G	c.(265-267)tCc>tGc	p.S89C		NM_013239.4	NP_037371.2	Q9Y5P8	P2R3B_HUMAN	protein phosphatase 2, regulatory subunit B'', beta	89					cell cycle arrest (GO:0007050)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|protein dephosphorylation (GO:0006470)|regulation of catalytic activity (GO:0050790)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	calcium ion binding (GO:0005509)|phosphoprotein phosphatase activity (GO:0004721)|protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)	p.S89C(1)		endometrium(5)|lung(5)|skin(1)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CCTGGGGCTGGAGGCGGCGCC	0.731																																							uc004cpg.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(265-267)TCC>TGC		protein phosphatase 2, regulatory subunit B'',							15.0	15.0	15.0					X																	347161		1857	4066	5923	SO:0001583	missense	28227				cell cycle arrest|protein dephosphorylation	nucleus|protein phosphatase type 2A complex	calcium ion binding|protein phosphatase type 2A regulator activity|protein serine/threonine phosphatase activity	g.chrX:347161G>C	AF215840	CCDS14104.1	Xp22.3 and Yp11.3	2013-01-10	2010-06-18		ENSG00000167393	ENSG00000167393		"""Pseudoautosomal regions / PAR1"", ""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""EF-hand domain containing"""	13417	protein-coding gene	gene with protein product		300339	"""protein phosphatase 2 (formerly 2A), regulatory subunit B'', beta"""	PPP2R3L		11173861	Standard	NM_013239		Approved	PPP2R3LY, PR48	uc004cpg.3	Q9Y5P8	OTTHUMG00000021052	ENST00000390665.3:c.266C>G	X.37:g.347161G>C	ENSP00000375080:p.Ser89Cys					PPP2R3B_uc011mha.1_5'UTR	p.S89C	NM_013239	NP_037371	Q9Y5P8	P2R3B_HUMAN			1	467	-		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	89					Q6P4G9|Q7RTT1|Q96H01	Missense_Mutation	SNP	ENST00000390665.3	37	c.266C>G	CCDS14104.1	.	.	.	.	.	.	.	.	.	.	G	10.43	1.347815	0.24426	.	.	ENSG00000167393	ENST00000390665	T	0.33216	1.42	1.07	1.07	0.20283	.	401.378000	0.00649	U	0.000541	T	0.25531	0.0621	L	0.40543	1.245	0.09310	N	1	P	0.36438	0.553	B	0.31869	0.137	T	0.25082	-1.0142	10	0.54805	T	0.06	.	5.5149	0.16900	0.0:0.0:1.0:0.0	.	89	Q9Y5P8	P2R3B_HUMAN	C	89	ENSP00000375080:S89C	ENSP00000375080:S89C	S	-	2	0	PPP2R3B	267161	0.317000	0.24589	0.639000	0.29394	0.252000	0.25951	1.693000	0.37742	0.563000	0.29222	0.401000	0.26515	TCC		0.731	PPP2R3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055577.2	NM_013239		8	12	0	0	0	0.006214	0	8	12				
ASMT	438	broad.mit.edu	37	X	1743279	1743279	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chrX:1743279C>T	ENST00000381229.4	+	3	398	c.362C>T	c.(361-363)gCa>gTa	p.A121V	ASMT_ENST00000381233.3_Missense_Mutation_p.A121V|ASMT_ENST00000381241.3_Missense_Mutation_p.A121V			P46597	ASMT_HUMAN	acetylserotonin O-methyltransferase	121					cellular nitrogen compound metabolic process (GO:0034641)|indolalkylamine biosynthetic process (GO:0046219)|melatonin biosynthetic process (GO:0030187)|negative regulation of male gonad development (GO:2000019)|small molecule metabolic process (GO:0044281)|translation (GO:0006412)	cytosol (GO:0005829)	acetylserotonin O-methyltransferase activity (GO:0017096)|identical protein binding (GO:0042802)|O-methyltransferase activity (GO:0008171)|protein homodimerization activity (GO:0042803)	p.A121V(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Melatonin(DB01065)	GGCCACCTGGCAGACGCCGTG	0.672																																							uc004cqd.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(361-363)GCA>GTA		acetylserotonin O-methyltransferase							85.0	78.0	81.0					X																	1743279		2203	4296	6499	SO:0001583	missense	438				melatonin biosynthetic process|translation	cytosol	acetylserotonin O-methyltransferase activity|S-methyltransferase activity	g.chrX:1743279C>T	M83779	CCDS14117.1, CCDS55364.1	Xp22.3 and Yp11.3	2008-02-05			ENSG00000196433	ENSG00000196433	2.1.1.4	"""Pseudoautosomal regions / PAR1"""	750	protein-coding gene	gene with protein product		300015, 402500				8397829, 7989373	Standard	NM_004043		Approved	HIOMT, ASMTY, HIOMTY	uc010ncy.3	P46597	OTTHUMG00000021065	ENST00000381229.4:c.362C>T	X.37:g.1743279C>T	ENSP00000370627:p.Ala121Val					ASMT_uc010ncy.2_Missense_Mutation_p.A121V|ASMT_uc004cqe.2_Missense_Mutation_p.A121V	p.A121V	NM_004043	NP_004034	P46597	HIOM_HUMAN			4	507	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	121					B2RC33|Q16598|Q5JQ72|Q5JQ73	Missense_Mutation	SNP	ENST00000381229.4	37	c.362C>T		.	.	.	.	.	.	.	.	.	.	c	10.59	1.391543	0.25118	.	.	ENSG00000196433	ENST00000381241;ENST00000381229;ENST00000381233	T;T;T	0.25250	1.81;1.81;2.2	1.77	1.77	0.24775	.	0.296492	0.30911	U	0.008624	T	0.22322	0.0538	L	0.53249	1.67	0.09310	N	1	P;B	0.36249	0.545;0.36	B;B	0.35727	0.209;0.161	T	0.10543	-1.0625	10	0.30854	T	0.27	.	10.6448	0.45613	0.0:1.0:0.0:0.0	.	121;121	P46597-2;P46597-3	.;.	V	121	ENSP00000370639:A121V;ENSP00000370627:A121V;ENSP00000370631:A121V	ENSP00000370627:A121V	A	+	2	0	ASMT	1703279	0.000000	0.05858	0.166000	0.22797	0.076000	0.17211	0.079000	0.14782	0.653000	0.30826	0.415000	0.27848	GCA		0.672	ASMT-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000055612.1	NM_004043		4	70	0	0	0	0.009096	0	4	70				
MXRA5	25878	broad.mit.edu	37	X	3228004	3228004	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chrX:3228004G>T	ENST00000217939.6	-	7	8394	c.8240C>A	c.(8239-8241)cCc>cAc	p.P2747H		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2747	Ig-like C2-type 12.					extracellular vesicular exosome (GO:0070062)		p.P2747H(2)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GGTGTTCCCGGGCCGGGTGTA	0.597																																							uc004crg.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8						c.(8239-8241)CCC>CAC		adlican precursor							70.0	60.0	63.0					X																	3228004		2203	4300	6503	SO:0001583	missense	25878					extracellular region		g.chrX:3228004G>T	AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.8240C>A	X.37:g.3228004G>T	ENSP00000217939:p.Pro2747His						p.P2747H	NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN			7	8397	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	2747			Ig-like C2-type 12.		Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	ENST00000217939.6	37	c.8240C>A	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	G	9.315	1.056656	0.19907	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.66995	-0.24	4.32	4.32	0.51571	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.196836	0.25022	U	0.033757	T	0.76933	0.4057	L	0.46670	1.46	0.09310	N	0.999999	D	0.89917	1.0	D	0.75484	0.986	T	0.70733	-0.4791	10	0.66056	D	0.02	.	16.4192	0.83753	0.0:0.0:1.0:0.0	.	2747	Q9NR99	MXRA5_HUMAN	H	2747	ENSP00000217939:P2747H	ENSP00000217939:P2747H	P	-	2	0	MXRA5	3238004	0.980000	0.34600	0.006000	0.13384	0.011000	0.07611	1.826000	0.39092	1.782000	0.52362	0.502000	0.49764	CCC		0.597	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		24	47	1	0	7.92952e-12	0.003954	1.16772e-11	24	47				
MXRA5	25878	broad.mit.edu	37	X	3240048	3240048	+	Silent	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chrX:3240048G>T	ENST00000217939.6	-	5	3832	c.3678C>A	c.(3676-3678)tcC>tcA	p.S1226S		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1226						extracellular vesicular exosome (GO:0070062)		p.S1226S(2)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GTGTTCCCTTGGATGTGGGTT	0.498																																							uc004crg.3		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8						c.(3676-3678)TCC>TCA		adlican precursor							163.0	156.0	158.0					X																	3240048		2203	4300	6503	SO:0001819	synonymous_variant	25878					extracellular region		g.chrX:3240048G>T	AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.3678C>A	X.37:g.3240048G>T							p.S1226S	NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN			5	3835	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	1226					Q6P1M7|Q9Y3Y8	Silent	SNP	ENST00000217939.6	37	c.3678C>A	CCDS14124.1																																																																																				0.498	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		32	98	1	0	1.08312e-15	0.009535	1.76829e-15	32	98				
MXRA5	25878	broad.mit.edu	37	X	3240386	3240386	+	Nonsense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chrX:3240386C>A	ENST00000217939.6	-	5	3494	c.3340G>T	c.(3340-3342)Gaa>Taa	p.E1114*		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1114						extracellular vesicular exosome (GO:0070062)		p.E1114*(2)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				ACTGTGGTTTCCGCAGGCTTC	0.493																																							uc004crg.3		NA																	2	Substitution - Nonsense(2)		lung(2)	ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8						c.(3340-3342)GAA>TAA		adlican precursor							105.0	81.0	89.0					X																	3240386		2203	4300	6503	SO:0001587	stop_gained	25878					extracellular region		g.chrX:3240386C>A	AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.3340G>T	X.37:g.3240386C>A	ENSP00000217939:p.Glu1114*						p.E1114*	NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN			5	3497	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	1114					Q6P1M7|Q9Y3Y8	Nonsense_Mutation	SNP	ENST00000217939.6	37	c.3340G>T	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	c	38	7.197469	0.98129	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	.	.	.	3.46	-1.08	0.09936	.	2.022440	0.02912	U	0.136798	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11182	T	0.66	.	5.9563	0.19275	0.0:0.5304:0.1563:0.3132	.	.	.	.	X	1114	.	ENSP00000217939:E1114X	E	-	1	0	MXRA5	3250386	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.354000	0.07681	-0.009000	0.14296	0.519000	0.50382	GAA		0.493	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		26	40	1	0	2.41591e-17	0.004656	4.06096e-17	26	40				
NLGN4X	57502	broad.mit.edu	37	X	5821809	5821809	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chrX:5821809C>T	ENST00000381095.3	-	5	1537	c.910G>A	c.(910-912)Gtc>Atc	p.V304I	NLGN4X_ENST00000275857.6_Missense_Mutation_p.V304I|NLGN4X_ENST00000381093.2_Missense_Mutation_p.V324I|NLGN4X_ENST00000538097.1_Missense_Mutation_p.V304I|NLGN4X_ENST00000381092.1_Missense_Mutation_p.V304I	NM_001282145.1|NM_001282146.1|NM_181332.1	NP_001269074.1|NP_001269075.1|NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	304					adult behavior (GO:0030534)|brainstem development (GO:0003360)|cell-cell junction organization (GO:0045216)|cerebellum development (GO:0021549)|learning (GO:0007612)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|neuron cell-cell adhesion (GO:0007158)|neuron differentiation (GO:0030182)|organ growth (GO:0035265)|presynaptic membrane assembly (GO:0097105)|social behavior (GO:0035176)|synapse organization (GO:0050808)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|chloride ion binding (GO:0031404)|neurexin family protein binding (GO:0042043)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)	p.V304I(1)		breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						TTGCAGCCGACCTTGTCTGCC	0.577																																							uc010ndh.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)|large_intestine(1)|ovary(1)	4						c.(910-912)GTC>ATC		X-linked neuroligin 4 precursor							137.0	95.0	109.0					X																	5821809		2203	4298	6501	SO:0001583	missense	57502				brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity	g.chrX:5821809C>T	AB033086	CCDS14126.1	Xp22.33	2008-02-05	2004-05-21	2004-05-26	ENSG00000146938	ENSG00000146938			14287	protein-coding gene	gene with protein product		300427	"""neuroligin 4"""	NLGN4		10574462	Standard	XM_005274564		Approved	KIAA1260, NLGN, HLNX	uc004crr.3	Q8N0W4	OTTHUMG00000021093	ENST00000381095.3:c.910G>A	X.37:g.5821809C>T	ENSP00000370485:p.Val304Ile					NLGN4X_uc004crp.2_Missense_Mutation_p.V324I|NLGN4X_uc004crq.2_Missense_Mutation_p.V304I|NLGN4X_uc010ndi.2_Missense_Mutation_p.V341I|NLGN4X_uc004crr.2_Missense_Mutation_p.V304I|NLGN4X_uc010ndj.2_Missense_Mutation_p.V304I	p.V304I	NM_181332	NP_851849	Q8N0W4	NLGNX_HUMAN			5	1411	-			304			Extracellular (Potential).		Q6UX10|Q9ULG0	Missense_Mutation	SNP	ENST00000381095.3	37	c.910G>A	CCDS14126.1	.	.	.	.	.	.	.	.	.	.	C	15.80	2.938899	0.52972	.	.	ENSG00000146938	ENST00000381095;ENST00000381093;ENST00000275857;ENST00000381092;ENST00000538097	T;T;T;T;T	0.69561	-0.41;-0.41;-0.41;-0.41;-0.41	3.93	3.05	0.35203	Carboxylesterase, type B (1);	.	.	.	.	T	0.71592	0.3358	L	0.54323	1.7	0.53688	D	0.999977	P;P;P	0.40050	0.662;0.651;0.7	P;B;P	0.53185	0.72;0.338;0.7	T	0.66991	-0.5783	8	.	.	.	.	12.0468	0.53485	0.0:0.8292:0.1708:0.0	.	361;304;324	A6NMU8;Q8N0W4;Q8N0W4-2	.;NLGNX_HUMAN;.	I	304;324;304;304;304	ENSP00000370485:V304I;ENSP00000370483:V324I;ENSP00000275857:V304I;ENSP00000370482:V304I;ENSP00000439203:V304I	.	V	-	1	0	NLGN4X	5831809	1.000000	0.71417	0.839000	0.33178	0.991000	0.79684	6.722000	0.74735	0.502000	0.28037	0.600000	0.82982	GTC		0.577	NLGN4X-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055673.1	NM_020742		16	63	0	0	0	0.007413	0	16	63				
TLR8	51311	broad.mit.edu	37	X	12937852	12937852	+	Missense_Mutation	SNP	C	C	G			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chrX:12937852C>G	ENST00000218032.6	+	2	780	c.693C>G	c.(691-693)aaC>aaG	p.N231K	TLR8_ENST00000311912.5_Missense_Mutation_p.N249K	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN	toll-like receptor 8	231					cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|immunoglobulin mediated immune response (GO:0016064)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|regulation of cytokine secretion (GO:0050707)|response to virus (GO:0009615)|toll-like receptor 8 signaling pathway (GO:0034158)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	endolysosome membrane (GO:0036020)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|receptor activity (GO:0004872)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)	p.N249K(1)		breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50					Imiquimod(DB00724)	TTCTGAGCAACACCCAGATCA	0.408																																							uc004cve.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|lung(2)|large_intestine(1)	7						c.(691-693)AAC>AAG		toll-like receptor 8 precursor							64.0	66.0	65.0					X																	12937852		2203	4299	6502	SO:0001583	missense	51311				cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process	endosome membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity	g.chrX:12937852C>G	AF246971	CCDS14152.1, CCDS14153.1	Xp22	2009-11-23			ENSG00000101916	ENSG00000101916		"""CD molecules"""	15632	protein-coding gene	gene with protein product		300366				11022119	Standard	NM_138636		Approved	CD288	uc004cve.3	Q9NR97	OTTHUMG00000021145	ENST00000218032.6:c.693C>G	X.37:g.12937852C>G	ENSP00000218032:p.Asn231Lys					TLR8_uc004cvd.2_Missense_Mutation_p.N249K	p.N231K	NM_138636	NP_619542	Q9NR97	TLR8_HUMAN			2	761	+			231			LRR 5.|Extracellular (Potential).		B3Y654|D1CS70|D1CS76|Q495P4|Q6UXL6|Q9NYG9	Missense_Mutation	SNP	ENST00000218032.6	37	c.693C>G	CCDS14152.1	.	.	.	.	.	.	.	.	.	.	C	9.724	1.160335	0.21454	.	.	ENSG00000101916	ENST00000218032;ENST00000311912	T;T	0.57273	0.41;0.41	5.17	-4.79	0.03200	.	0.000000	0.43579	D	0.000543	T	0.61961	0.2389	L	0.54965	1.715	0.23649	N	0.997201	D;D	0.71674	0.998;0.998	D;D	0.68353	0.957;0.957	T	0.64457	-0.6403	10	0.87932	D	0	.	16.1267	0.81400	0.0:0.2829:0.0:0.7171	.	231;249	Q9NR97;D1CS70	TLR8_HUMAN;.	K	231;249	ENSP00000218032:N231K;ENSP00000312082:N249K	ENSP00000218032:N231K	N	+	3	2	TLR8	12847773	0.000000	0.05858	0.003000	0.11579	0.027000	0.11550	-1.558000	0.02164	-1.183000	0.02723	-0.355000	0.07637	AAC		0.408	TLR8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055784.2	NM_016610		19	103	0	0	0	0.008871	0	19	103				
BMX	660	broad.mit.edu	37	X	15554498	15554498	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chrX:15554498C>A	ENST00000357607.2	+	13	1358	c.1170C>A	c.(1168-1170)caC>caA	p.H390Q	BMX_ENST00000342014.6_Missense_Mutation_p.H390Q|BMX_ENST00000348343.6_Missense_Mutation_p.H390Q			P51813	BMX_HUMAN	BMX non-receptor tyrosine kinase	390	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to stress (GO:0006950)|signal transduction (GO:0007165)	cytosol (GO:0005829)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|signal transducer activity (GO:0004871)	p.H390Q(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(14)|ovary(2)|urinary_tract(3)	30	Hepatocellular(33;0.183)					GGCTCCGCCACCCTGTGTCAA	0.428																																							uc004cww.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(3)|ovary(2)	5						c.(1168-1170)CAC>CAA		BMX non-receptor tyrosine kinase							155.0	127.0	136.0					X																	15554498		2203	4300	6503	SO:0001583	missense	660				cellular component disassembly involved in apoptosis|intracellular signal transduction|mesoderm development	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity	g.chrX:15554498C>A	AF045459	CCDS14168.1	Xp22.2	2013-05-14			ENSG00000102010	ENSG00000102010		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	1079	protein-coding gene	gene with protein product	"""BTK-like on X chromosome"""	300101				7970727	Standard	NM_203281		Approved	ETK, PSCTK3	uc004cwx.4	P51813	OTTHUMG00000021180	ENST00000357607.2:c.1170C>A	X.37:g.15554498C>A	ENSP00000350224:p.His390Gln					BMX_uc004cwx.3_Missense_Mutation_p.H390Q|BMX_uc004cwy.3_Missense_Mutation_p.H390Q	p.H390Q	NM_203281	NP_975010	P51813	BMX_HUMAN			13	1358	+	Hepatocellular(33;0.183)		390			SH2.		A6NIH9|O60564|Q12871	Missense_Mutation	SNP	ENST00000357607.2	37	c.1170C>A	CCDS14168.1	.	.	.	.	.	.	.	.	.	.	c	18.26	3.584790	0.65992	.	.	ENSG00000102010	ENST00000357607;ENST00000348343;ENST00000342014	T;T;T	0.25085	1.82;1.82;1.82	4.88	3.87	0.44632	Protein kinase-like domain (1);SH2 motif (2);	0.000000	0.64402	D	0.000017	T	0.20414	0.0491	L	0.36672	1.1	0.35208	D	0.774894	P	0.43169	0.8	B	0.44315	0.446	T	0.24190	-1.0167	10	0.66056	D	0.02	.	3.7149	0.08434	0.0:0.6944:0.0:0.3056	.	390	P51813	BMX_HUMAN	Q	390	ENSP00000350224:H390Q;ENSP00000308774:H390Q;ENSP00000340082:H390Q	ENSP00000340082:H390Q	H	+	3	2	BMX	15464419	0.999000	0.42202	1.000000	0.80357	0.954000	0.61252	0.314000	0.19432	2.007000	0.58848	0.519000	0.50382	CAC		0.428	BMX-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055877.1	NM_001721		27	111	1	0	2.08457e-15	0.002096	3.38163e-15	27	111				
GPR64	10149	broad.mit.edu	37	X	19031889	19031889	+	Silent	SNP	T	T	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chrX:19031889T>A	ENST00000379869.3	-	16	1177	c.1014A>T	c.(1012-1014)ccA>ccT	p.P338P	GPR64_ENST00000379878.3_Silent_p.P322P|GPR64_ENST00000360279.4_Silent_p.P316P|GPR64_ENST00000340581.3_Silent_p.P308P|GPR64_ENST00000357544.3_Silent_p.P308P|GPR64_ENST00000379873.2_Silent_p.P338P|GPR64_ENST00000356606.4_Silent_p.P324P|GPR64_ENST00000354791.3_Silent_p.P322P|GPR64_ENST00000379876.1_Silent_p.P314P|GPR64_ENST00000357991.3_Silent_p.P335P	NM_001079858.2|NM_005756.3	NP_001073327.1|NP_005747.2	Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64	338					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)|spermatogenesis (GO:0007283)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)	p.P335P(1)		breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42	Hepatocellular(33;0.183)					TCACAGGAGGTGGGGTGCCGG	0.562																																							uc004cyx.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(1012-1014)CCA>CCT		G protein-coupled receptor 64 isoform 1							150.0	129.0	136.0					X																	19031889		2203	4300	6503	SO:0001819	synonymous_variant	10149				neuropeptide signaling pathway|spermatogenesis	cytoplasm|integral to plasma membrane	G-protein coupled receptor activity	g.chrX:19031889T>A	X81892	CCDS14191.1, CCDS43921.1, CCDS43922.1, CCDS43923.1, CCDS55376.1, CCDS55377.1, CCDS55378.1, CCDS55379.1	Xp22.13	2014-08-08			ENSG00000173698	ENSG00000173698		"""-"", ""GPCR / Class B : Orphans"""	4516	protein-coding gene	gene with protein product	"""epididymal protein 6"""	300572				9739419, 9150425	Standard	NM_005756		Approved	HE6, TM7LN2, EDDM6	uc004cyx.3	Q8IZP9	OTTHUMG00000021223	ENST00000379869.3:c.1014A>T	X.37:g.19031889T>A						GPR64_uc004cyy.2_Silent_p.P335P|GPR64_uc004cyz.2_Silent_p.P324P|GPR64_uc004czb.2_Silent_p.P338P|GPR64_uc004czc.2_Silent_p.P322P|GPR64_uc004czd.2_Silent_p.P314P|GPR64_uc004cze.2_Silent_p.P308P|GPR64_uc004czf.2_Silent_p.P300P|GPR64_uc004cza.2_Silent_p.P316P|GPR64_uc004cyw.2_Silent_p.P322P|GPR64_uc010nfj.2_Silent_p.P308P	p.P338P	NM_001079858	NP_001073327	Q8IZP9	GPR64_HUMAN			16	1178	-	Hepatocellular(33;0.183)		338			Extracellular (Potential).		B1AWB3|B1AWB4|B1AWB6|B1AWB7|O00406|Q14CE0|Q8IWT2|Q8IZE4|Q8IZE5|Q8IZE6|Q8IZE7|Q8IZP3|Q8IZP4	Silent	SNP	ENST00000379869.3	37	c.1014A>T	CCDS43923.1																																																																																				0.562	GPR64-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055970.2			24	117	0	0	0	0.004656	0	24	117				
CNKSR2	22866	broad.mit.edu	37	X	21534736	21534736	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chrX:21534736C>A	ENST00000379510.3	+	9	980	c.944C>A	c.(943-945)cCc>cAc	p.P315H	CNKSR2_ENST00000543067.1_Intron|CNKSR2_ENST00000279451.4_Missense_Mutation_p.P315H|CNKSR2_ENST00000425654.2_Missense_Mutation_p.P315H	NM_014927.3	NP_055742.2	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	315					regulation of signal transduction (GO:0009966)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)		p.P315H(1)		breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						AGATGGAAGCCCCTTGCTCTG	0.418																																							uc004czx.1		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(1)|lung(1)	2						c.(943-945)CCC>CAC		connector enhancer of kinase suppressor of Ras							77.0	66.0	70.0					X																	21534736		2203	4300	6503	SO:0001583	missense	22866				regulation of signal transduction	cytoplasm|membrane	protein binding	g.chrX:21534736C>A	AB020709	CCDS14198.1, CCDS55387.1, CCDS55388.1, CCDS55389.1	Xp22.12	2013-01-10			ENSG00000149970	ENSG00000149970		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	19701	protein-coding gene	gene with protein product		300724					Standard	NM_014927		Approved	KIAA0902, CNK2, KSR2	uc004czx.2	Q8WXI2	OTTHUMG00000021233	ENST00000379510.3:c.944C>A	X.37:g.21534736C>A	ENSP00000368824:p.Pro315His					CNKSR2_uc004czw.2_Missense_Mutation_p.P315H|CNKSR2_uc011mjn.1_Intron|CNKSR2_uc011mjo.1_Missense_Mutation_p.P315H	p.P315H	NM_014927	NP_055742	Q8WXI2	CNKR2_HUMAN			9	980	+			315					B4DGR4|B7ZLJ1|B9EG83|E7ESA4|O94976|Q5JPK4|Q5JPN0|Q8WXI1	Missense_Mutation	SNP	ENST00000379510.3	37	c.944C>A	CCDS14198.1	.	.	.	.	.	.	.	.	.	.	C	18.36	3.606678	0.66558	.	.	ENSG00000149970	ENST00000425654;ENST00000279451;ENST00000379510	T;T;T	0.25085	2.2;1.82;2.09	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.54565	0.1866	M	0.79475	2.455	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.60762	-0.7199	10	0.87932	D	0	-22.3339	17.8997	0.88900	0.0:1.0:0.0:0.0	.	315;315	B7ZLJ1;Q8WXI2	.;CNKR2_HUMAN	H	315	ENSP00000397906:P315H;ENSP00000279451:P315H;ENSP00000368824:P315H	ENSP00000279451:P315H	P	+	2	0	CNKSR2	21444657	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.484000	0.81180	2.160000	0.67779	0.594000	0.82650	CCC		0.418	CNKSR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056019.1	NM_014927		16	57	1	0	5.3912e-06	0.006122	6.41421e-06	16	57				
CNKSR2	22866	broad.mit.edu	37	X	21667055	21667055	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chrX:21667055G>T	ENST00000379510.3	+	21	2835	c.2799G>T	c.(2797-2799)atG>atT	p.M933I	CNKSR2_ENST00000425654.2_Missense_Mutation_p.M903I	NM_014927.3	NP_055742.2	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	933					regulation of signal transduction (GO:0009966)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)		p.M933I(1)		breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						CAACCAAGATGGAATACAAGC	0.388																																							uc004czx.1		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(1)|lung(1)	2						c.(2797-2799)ATG>ATT		connector enhancer of kinase suppressor of Ras							113.0	114.0	113.0					X																	21667055		2203	4300	6503	SO:0001583	missense	22866				regulation of signal transduction	cytoplasm|membrane	protein binding	g.chrX:21667055G>T	AB020709	CCDS14198.1, CCDS55387.1, CCDS55388.1, CCDS55389.1	Xp22.12	2013-01-10			ENSG00000149970	ENSG00000149970		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	19701	protein-coding gene	gene with protein product		300724					Standard	NM_014927		Approved	KIAA0902, CNK2, KSR2	uc004czx.2	Q8WXI2	OTTHUMG00000021233	ENST00000379510.3:c.2799G>T	X.37:g.21667055G>T	ENSP00000368824:p.Met933Ile					CNKSR2_uc011mjo.1_Missense_Mutation_p.M903I	p.M933I	NM_014927	NP_055742	Q8WXI2	CNKR2_HUMAN			21	2835	+			933					B4DGR4|B7ZLJ1|B9EG83|E7ESA4|O94976|Q5JPK4|Q5JPN0|Q8WXI1	Missense_Mutation	SNP	ENST00000379510.3	37	c.2799G>T	CCDS14198.1	.	.	.	.	.	.	.	.	.	.	G	13.34	2.208336	0.39003	.	.	ENSG00000149970	ENST00000425654;ENST00000379510	T;T	0.13657	2.57;2.58	5.76	3.98	0.46160	.	0.376195	0.32624	N	0.005858	T	0.09774	0.0240	N	0.22421	0.69	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.12604	-1.0541	10	0.38643	T	0.18	-13.8938	10.9234	0.47178	0.0719:0.1269:0.8012:0.0	.	903;933	B7ZLJ1;Q8WXI2	.;CNKR2_HUMAN	I	903;933	ENSP00000397906:M903I;ENSP00000368824:M933I	ENSP00000368824:M933I	M	+	3	0	CNKSR2	21576976	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.511000	0.35801	0.578000	0.29487	0.600000	0.82982	ATG		0.388	CNKSR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056019.1	NM_014927		24	121	1	0	2.24059e-21	0.00632	3.94129e-21	24	121				
PTCHD1	139411	broad.mit.edu	37	X	23412273	23412273	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chrX:23412273C>A	ENST00000379361.4	+	3	3498	c.2638C>A	c.(2638-2640)Cgt>Agt	p.R880S		NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN	patched domain containing 1	880					cognition (GO:0050890)|smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hedgehog receptor activity (GO:0008158)	p.R880S(1)|p.R775S(1)		NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						CGATAGTACCCGTGTGGTTGA	0.378																																							uc004dal.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)|kidney(1)|skin(1)	6						c.(2638-2640)CGT>AGT		patched domain containing 1							78.0	72.0	74.0					X																	23412273		2203	4300	6503	SO:0001583	missense	139411				cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity	g.chrX:23412273C>A	AK054858	CCDS35215.2	Xp22.13	2008-02-05			ENSG00000165186	ENSG00000165186			26392	protein-coding gene	gene with protein product		300828					Standard	NM_173495		Approved	FLJ30296	uc004dal.4	Q96NR3	OTTHUMG00000021251	ENST00000379361.4:c.2638C>A	X.37:g.23412273C>A	ENSP00000368666:p.Arg880Ser						p.R880S	NM_173495	NP_775766	Q96NR3	PTHD1_HUMAN			3	2646	+			880					B4DQH0|Q0IJ60|Q6P6B8	Missense_Mutation	SNP	ENST00000379361.4	37	c.2638C>A	CCDS35215.2	.	.	.	.	.	.	.	.	.	.	C	13.55	2.269433	0.40095	.	.	ENSG00000165186	ENST00000379361	D	0.89746	-2.56	4.71	2.88	0.33553	.	0.165679	0.41097	D	0.000952	D	0.88466	0.6444	N	0.19112	0.55	0.37652	D	0.922433	D	0.63880	0.993	D	0.71184	0.972	D	0.88047	0.2785	10	0.49607	T	0.09	.	11.5621	0.50782	0.3244:0.6756:0.0:0.0	.	880	Q96NR3	PTHD1_HUMAN	S	880	ENSP00000368666:R880S	ENSP00000368666:R880S	R	+	1	0	PTCHD1	23322194	0.993000	0.37304	0.998000	0.56505	0.981000	0.71138	1.682000	0.37628	0.331000	0.23511	0.436000	0.28706	CGT		0.378	PTCHD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056047.2	NM_173495		27	70	1	0	1.17739e-12	0.005443	1.79062e-12	27	70				
MAGEB4	4115	broad.mit.edu	37	X	30260998	30260998	+	Missense_Mutation	SNP	T	T	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chrX:30260998T>A	ENST00000378982.2	+	1	942	c.746T>A	c.(745-747)cTg>cAg	p.L249Q	MAGEB1_ENST00000378981.3_5'Flank|MAGEB1_ENST00000397550.1_5'Flank	NM_002367.3	NP_002358.1	O15481	MAGB4_HUMAN	melanoma antigen family B, 4	249	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.							p.L249Q(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27						ACCCAAGATCTGGTACAGGAA	0.493																																							uc004dcb.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(745-747)CTG>CAG		melanoma antigen family B, 4							62.0	60.0	61.0					X																	30260998		2202	4300	6502	SO:0001583	missense	4115							g.chrX:30260998T>A		CCDS14221.1	Xp21.3	2009-03-17			ENSG00000120289	ENSG00000120289			6811	protein-coding gene	gene with protein product	"""melanoma-associated antigen B4"", ""cancer/testis antigen family 3, member 6"""	300153				9441743	Standard	NM_002367		Approved	MGC33144, CT3.6	uc004dcb.3	O15481	OTTHUMG00000021321	ENST00000378982.2:c.746T>A	X.37:g.30260998T>A	ENSP00000368266:p.Leu249Gln					MAGEB1_uc004dcc.2_5'Flank|MAGEB1_uc004dcd.2_5'Flank	p.L249Q	NM_002367	NP_002358	O15481	MAGB4_HUMAN			1	830	+			249			MAGE.		B2R9G0|Q6FHH4|Q8IZ00	Missense_Mutation	SNP	ENST00000378982.2	37	c.746T>A	CCDS14221.1	.	.	.	.	.	.	.	.	.	.	T	15.09	2.729129	0.48833	.	.	ENSG00000120289	ENST00000378982	T	0.11821	2.74	3.31	0.654	0.17833	.	0.074531	0.53938	U	0.000046	T	0.39835	0.1093	H	0.95539	3.685	0.09310	N	1	D	0.89917	1.0	D	0.87578	0.998	T	0.29212	-1.0019	10	0.87932	D	0	.	2.4532	0.04523	0.2373:0.1394:0.0:0.6233	.	249	O15481	MAGB4_HUMAN	Q	249	ENSP00000368266:L249Q	ENSP00000368266:L249Q	L	+	2	0	MAGEB4	30170919	0.011000	0.17503	0.007000	0.13788	0.396000	0.30629	0.026000	0.13599	0.034000	0.15491	0.486000	0.48141	CTG		0.493	MAGEB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056159.1	NM_002367		9	41	0	0	0	0.006214	0	9	41				
DMD	1756	broad.mit.edu	37	X	32591656	32591656	+	Silent	SNP	T	T	C			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chrX:32591656T>C	ENST00000357033.4	-	15	2009	c.1803A>G	c.(1801-1803)caA>caG	p.Q601Q	DMD_ENST00000378677.2_Silent_p.Q597Q|DMD_ENST00000288447.4_Silent_p.Q593Q	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	601					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)	p.Q601Q(1)|p.Q596Q(1)|p.Q597Q(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CGGCCAGTTTTTGAAGACTTG	0.323																																							uc004dda.1		NA																	3	Substitution - coding silent(3)		lung(3)	ovary(3)|pancreas(2)|large_intestine(1)	6						c.(1801-1803)CAA>CAG		dystrophin Dp427m isoform							89.0	82.0	84.0					X																	32591656		2201	4299	6500	SO:0001819	synonymous_variant	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:32591656T>C	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.1803A>G	X.37:g.32591656T>C						DMD_uc004dcz.2_Silent_p.Q478Q|DMD_uc004dcy.1_Silent_p.Q597Q|DMD_uc004ddb.1_Silent_p.Q593Q|DMD_uc010ngo.1_Intron|DMD_uc004ddf.2_Silent_p.Q593Q|DMD_uc010ngp.1_3'UTR|DMD_uc010ngq.1_RNA	p.Q601Q	NM_004006	NP_003997	P11532	DMD_HUMAN			15	2047	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	601			Spectrin 3.		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Silent	SNP	ENST00000357033.4	37	c.1803A>G	CCDS14233.1																																																																																				0.323	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		26	45	0	0	0	0.004656	0	26	45				
DMD	1756	broad.mit.edu	37	X	32591898	32591898	+	Silent	SNP	G	G	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chrX:32591898G>A	ENST00000357033.4	-	14	1874	c.1668C>T	c.(1666-1668)gaC>gaT	p.D556D	DMD_ENST00000378677.2_Silent_p.D552D|DMD_ENST00000288447.4_Silent_p.D548D	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	556					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)	p.D551D(1)|p.D556D(1)|p.D552D(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TGAGAAGGATGTCTTGTAAAA	0.433																																							uc004dda.1		NA																	3	Substitution - coding silent(3)		lung(3)	ovary(3)|pancreas(2)|large_intestine(1)	6						c.(1666-1668)GAC>GAT		dystrophin Dp427m isoform							65.0	54.0	58.0					X																	32591898		2202	4300	6502	SO:0001819	synonymous_variant	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:32591898G>A	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.1668C>T	X.37:g.32591898G>A						DMD_uc004dcz.2_Silent_p.D433D|DMD_uc004dcy.1_Silent_p.D552D|DMD_uc004ddb.1_Silent_p.D548D|DMD_uc010ngo.1_Intron|DMD_uc004ddf.2_Silent_p.D548D|DMD_uc010ngp.1_Missense_Mutation_p.T76I|DMD_uc010ngq.1_RNA	p.D556D	NM_004006	NP_003997	P11532	DMD_HUMAN			14	1912	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	556			Spectrin 2.		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Silent	SNP	ENST00000357033.4	37	c.1668C>T	CCDS14233.1																																																																																				0.433	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		5	28	0	0	0	0.000602	0	5	28				
FAM47A	158724	broad.mit.edu	37	X	34150342	34150342	+	Silent	SNP	C	C	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chrX:34150342C>T	ENST00000346193.3	-	1	105	c.54G>A	c.(52-54)aaG>aaA	p.K18K		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	18								p.K18K(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						AGTACCAGGGCTTGGAGTCCA	0.612																																							uc004ddg.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(4)|central_nervous_system(1)	5						c.(52-54)AAG>AAA		hypothetical protein LOC158724							40.0	41.0	41.0					X																	34150342		2202	4300	6502	SO:0001819	synonymous_variant	158724							g.chrX:34150342C>T	BC026171	CCDS43926.1	Xp21.1	2004-08-09			ENSG00000185448	ENSG00000185448			29962	protein-coding gene	gene with protein product	"""similar to hypothetical protein FLJ35782"""					12477932	Standard	NM_203408		Approved	MGC27003	uc004ddg.3	Q5JRC9	OTTHUMG00000021339	ENST00000346193.3:c.54G>A	X.37:g.34150342C>T							p.K18K	NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN			1	87	-			18					A8K8I9|Q8TAA0	Silent	SNP	ENST00000346193.3	37	c.54G>A	CCDS43926.1																																																																																				0.612	FAM47A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056205.1	NM_203408		19	39	0	0	0	0.007413	0	19	39				
FAM47B	170062	broad.mit.edu	37	X	34961712	34961712	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chrX:34961712G>T	ENST00000329357.5	+	1	800	c.764G>T	c.(763-765)gGa>gTa	p.G255V		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	255	Pro-rich.							p.G255V(1)		breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						CCCGAGACTGGAGTGTCCCAT	0.637																																							uc004ddi.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(1)	4						c.(763-765)GGA>GTA		hypothetical protein LOC170062							60.0	57.0	58.0					X																	34961712		2202	4300	6502	SO:0001583	missense	170062							g.chrX:34961712G>T	BC035026	CCDS14236.1	Xp21.1	2004-08-09			ENSG00000189132	ENSG00000189132			26659	protein-coding gene	gene with protein product						14702039	Standard	NM_152631		Approved	FLJ35782	uc004ddi.2	Q8NA70	OTTHUMG00000021345	ENST00000329357.5:c.764G>T	X.37:g.34961712G>T	ENSP00000328307:p.Gly255Val						p.G255V	NM_152631	NP_689844	Q8NA70	FA47B_HUMAN			1	782	+			255			Pro-rich.		Q5JQN5|Q6PIG3	Missense_Mutation	SNP	ENST00000329357.5	37	c.764G>T	CCDS14236.1	.	.	.	.	.	.	.	.	.	.	G	8.736	0.917907	0.17982	.	.	ENSG00000189132	ENST00000329357	T	0.15017	2.46	0.235	-0.47	0.12131	.	.	.	.	.	T	0.19725	0.0474	L	0.59436	1.845	0.09310	N	1	D	0.53462	0.96	P	0.51229	0.663	T	0.11275	-1.0594	9	0.35671	T	0.21	.	2.152	0.03802	0.3044:0.3469:0.3487:0.0	.	255	Q8NA70	FA47B_HUMAN	V	255	ENSP00000328307:G255V	ENSP00000328307:G255V	G	+	2	0	FAM47B	34871633	0.006000	0.16342	0.000000	0.03702	0.000000	0.00434	0.149000	0.16243	-0.717000	0.04955	-0.709000	0.03644	GGA		0.637	FAM47B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056211.1	NM_152631		14	41	1	0	9.05144e-12	0.001855	1.33102e-11	14	41				
FAM47C	442444	broad.mit.edu	37	X	37028757	37028757	+	Silent	SNP	C	C	G			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chrX:37028757C>G	ENST00000358047.3	+	1	2326	c.2274C>G	c.(2272-2274)cgC>cgG	p.R758R		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	758								p.R758R(2)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						TTGAGACTCGCGTATCTCATC	0.632																																							uc004ddl.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(3)	3						c.(2272-2274)CGC>CGG		hypothetical protein LOC442444							46.0	44.0	45.0					X																	37028757		2202	4300	6502	SO:0001819	synonymous_variant	442444							g.chrX:37028757C>G	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.2274C>G	X.37:g.37028757C>G							p.R758R	NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN			1	2288	+			758					Q6ZU46	Silent	SNP	ENST00000358047.3	37	c.2274C>G	CCDS35227.1																																																																																				0.632	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		19	27	0	0	0	0.001882	0	19	27				
CYBB	1536	broad.mit.edu	37	X	37653016	37653016	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chrX:37653016G>T	ENST00000378588.4	+	5	503	c.436G>T	c.(436-438)Gac>Tac	p.D146Y	CYBB_ENST00000545017.1_Missense_Mutation_p.D114Y|CYBB_ENST00000536160.1_Intron|TM4SF2_ENST00000465127.1_Intron	NM_000397.3	NP_000388.2	P04839	CY24B_HUMAN	cytochrome b-245, beta polypeptide	146	Ferric oxidoreductase.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|hydrogen peroxide biosynthetic process (GO:0050665)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interaction with host (GO:0051701)|oxidation-reduction process (GO:0055114)|phagosome maturation (GO:0090382)|respiratory burst (GO:0045730)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|NADPH oxidase complex (GO:0043020)|neuronal cell body (GO:0043025)|phagocytic vesicle membrane (GO:0030670)|rough endoplasmic reticulum (GO:0005791)	flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|superoxide-generating NADPH oxidase activity (GO:0016175)|voltage-gated ion channel activity (GO:0005244)	p.D146Y(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|prostate(2)|skin(2)	32					Dextromethorphan(DB00514)	TGAACTTGGAGACAGGCAAAA	0.383																																							uc004ddr.2		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(436-438)GAC>TAC		cytochrome b-245 beta polypeptide							107.0	90.0	96.0					X																	37653016		2202	4300	6502	SO:0001583	missense	1536				electron transport chain|inflammatory response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|heme binding|protein heterodimerization activity|superoxide-generating NADPH oxidase activity|voltage-gated ion channel activity	g.chrX:37653016G>T	X04011	CCDS14242.1	Xp21.1	2014-09-17	2008-07-29		ENSG00000165168	ENSG00000165168		"""Cytochrome b genes"""	2578	protein-coding gene	gene with protein product		300481	"""chronic granulomatous disease"""	CGD			Standard	NM_000397		Approved	GP91-PHOX, NOX2	uc004ddr.2	P04839	OTTHUMG00000033175	ENST00000378588.4:c.436G>T	X.37:g.37653016G>T	ENSP00000367851:p.Asp146Tyr					CYBB_uc011mke.1_Intron|CYBB_uc011mkf.1_Missense_Mutation_p.D114Y|CYBB_uc011mkg.1_Intron	p.D146Y	NM_000397	NP_000388	P04839	CY24B_HUMAN			5	497	+			146			Extracellular (Potential).|Ferric oxidoreductase.		A8K138|Q2PP16	Missense_Mutation	SNP	ENST00000378588.4	37	c.436G>T	CCDS14242.1	.	.	.	.	.	.	.	.	.	.	G	13.97	2.394571	0.42512	.	.	ENSG00000165168	ENST00000378588;ENST00000545017	D;D	0.91577	-2.87;-2.87	5.71	5.71	0.89125	Flavoprotein transmembrane component (1);	0.048352	0.85682	D	0.000000	D	0.94496	0.8228	M	0.66939	2.045	0.80722	D	1	P;D	0.63880	0.889;0.993	P;D	0.66196	0.562;0.942	D	0.93926	0.7210	10	0.45353	T	0.12	.	18.8648	0.92287	0.0:0.0:1.0:0.0	.	114;146	F5GWD2;P04839	.;CY24B_HUMAN	Y	146;114	ENSP00000367851:D146Y;ENSP00000441896:D114Y	ENSP00000367851:D146Y	D	+	1	0	CYBB	37537956	1.000000	0.71417	0.842000	0.33263	0.019000	0.09904	6.184000	0.72008	2.402000	0.81655	0.600000	0.82982	GAC		0.383	CYBB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080881.1			21	94	1	0	6.33239e-15	0.010504	1.02077e-14	21	94				
ATP6AP2	10159	broad.mit.edu	37	X	40464916	40464916	+	Missense_Mutation	SNP	T	T	G			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chrX:40464916T>G	ENST00000378438.4	+	9	1120	c.962T>G	c.(961-963)gTg>gGg	p.V321G	ATP6AP2_ENST00000544975.1_Missense_Mutation_p.V245G|ATP6AP2_ENST00000535539.1_Missense_Mutation_p.V289G|ATP6AP2_ENST00000535777.1_Missense_Mutation_p.V243G	NM_005765.2	NP_005756.2	O75787	RENR_HUMAN	ATPase, H+ transporting, lysosomal accessory protein 2	321					angiotensin maturation (GO:0002003)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|eye pigmentation (GO:0048069)|head morphogenesis (GO:0060323)|positive regulation of transforming growth factor beta1 production (GO:0032914)|positive regulation of Wnt signaling pathway (GO:0030177)|proteolysis (GO:0006508)|regulation of MAPK cascade (GO:0043408)|rostrocaudal neural tube patterning (GO:0021903)	cell body (GO:0044297)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	aspartic-type endopeptidase activity (GO:0004190)|receptor activity (GO:0004872)	p.V321G(1)		endometrium(1)|large_intestine(1)|lung(2)	4						GCCTTGGCTGTGATTATCACC	0.373																																							uc004det.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(961-963)GTG>GGG		ATPase, H+ transporting, lysosomal accessory							125.0	104.0	111.0					X																	40464916		2203	4300	6503	SO:0001583	missense	10159				angiotensin maturation|positive regulation of transforming growth factor-beta1 production|regulation of MAPKKK cascade	external side of plasma membrane|integral to membrane	protein binding|receptor activity	g.chrX:40464916T>G	AF248966	CCDS14252.1	Xp11.4	2014-06-17	2003-08-28	2003-08-29	ENSG00000182220	ENSG00000182220			18305	protein-coding gene	gene with protein product	"""prorenin receptor"", ""renin receptor"""	300556	"""ATPase, H+ transporting, lysosomal interacting protein 2"""	ATP6IP2		9556572, 11590366	Standard	NM_005765		Approved	M8-9, APT6M8-9, ATP6M8-9, PRR, RENR	uc004det.3	O75787	OTTHUMG00000024103	ENST00000378438.4:c.962T>G	X.37:g.40464916T>G	ENSP00000367697:p.Val321Gly					ATP6AP2_uc010nhc.2_RNA|ATP6AP2_uc011mkl.1_Missense_Mutation_p.V245G|ATP6AP2_uc011mkm.1_Missense_Mutation_p.V289G|ATP6AP2_uc011mkn.1_Missense_Mutation_p.V243G|ATP6AP2_uc004deu.1_Missense_Mutation_p.V185G	p.V321G	NM_005765	NP_005756	O75787	RENR_HUMAN			9	1064	+			321			Helical; (Potential).		B7Z9I3|Q5QTQ7|Q6T7F5|Q8NBP3|Q8NG15|Q96FV6|Q96LB5|Q9H2P8|Q9UG89	Missense_Mutation	SNP	ENST00000378438.4	37	c.962T>G	CCDS14252.1	.	.	.	.	.	.	.	.	.	.	T	21.1	4.090655	0.76756	.	.	ENSG00000182220	ENST00000535539;ENST00000378438;ENST00000544975;ENST00000535777	T;T;T;T	0.54675	0.56;0.56;0.56;0.56	5.65	5.65	0.86999	.	0.053545	0.64402	D	0.000001	T	0.71384	0.3333	M	0.74258	2.255	0.80722	D	1	D;D;D;D	0.65815	0.995;0.977;0.99;0.99	D;P;D;D	0.70227	0.968;0.835;0.939;0.963	T	0.73257	-0.4040	10	0.48119	T	0.1	-6.7353	14.899	0.70664	0.0:0.0:0.0:1.0	.	243;289;245;321	B7Z1I9;B7Z9I3;B7Z413;O75787	.;.;.;RENR_HUMAN	G	289;321;245;243	ENSP00000438415:V289G;ENSP00000367697:V321G;ENSP00000440459:V245G;ENSP00000441536:V243G	ENSP00000367697:V321G	V	+	2	0	ATP6AP2	40349860	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	7.665000	0.83852	1.900000	0.55004	0.486000	0.48141	GTG		0.373	ATP6AP2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060679.1	NM_005765		9	80	0	0	0	0.004482	0	9	80				
NYX	60506	broad.mit.edu	37	X	41333566	41333566	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chrX:41333566G>C	ENST00000342595.2	+	2	1316	c.860G>C	c.(859-861)cGc>cCc	p.R287P	NYX_ENST00000378220.1_Missense_Mutation_p.R287P	NM_022567.2	NP_072089.1	Q9GZU5	NYX_HUMAN	nyctalopin	287					response to stimulus (GO:0050896)|visual perception (GO:0007601)	intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)		p.R287P(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(11)|upper_aerodigestive_tract(1)	17						TACCTGGACCGCAACAGCATC	0.701																																							uc004dfh.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(2)	2						c.(859-861)CGC>CCC		nyctalopin precursor							33.0	32.0	32.0					X																	41333566		2199	4298	6497	SO:0001583	missense	60506				response to stimulus|visual perception	intracellular|proteinaceous extracellular matrix		g.chrX:41333566G>C	AF254868	CCDS14256.1	Xp11.4	2014-01-28			ENSG00000188937	ENSG00000188937			8082	protein-coding gene	gene with protein product		300278		CSNB1, CSNB4		11062471, 11062472	Standard	NM_022567		Approved	CLRP, CSNB1A	uc004dfh.2	Q9GZU5	OTTHUMG00000021370	ENST00000342595.2:c.860G>C	X.37:g.41333566G>C	ENSP00000340328:p.Arg287Pro					NYX_uc011mku.1_Missense_Mutation_p.R282P	p.R287P	NM_022567	NP_072089	Q9GZU5	NYX_HUMAN			2	1290	+			287			LRR 10.		D3DWC0|Q2M1S4|Q5H983|Q9H4J0	Missense_Mutation	SNP	ENST00000342595.2	37	c.860G>C	CCDS14256.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.691607	0.88735	.	.	ENSG00000188937	ENST00000342595;ENST00000378220	T;T	0.59224	0.28;0.28	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	T	0.76976	0.4063	M	0.79805	2.47	0.58432	D	0.999995	D	0.89917	1.0	D	0.91635	0.999	T	0.75929	-0.3144	10	0.28530	T	0.3	.	17.8739	0.88819	0.0:0.0:1.0:0.0	.	287	Q9GZU5	NYX_HUMAN	P	287	ENSP00000340328:R287P;ENSP00000367465:R287P	ENSP00000340328:R287P	R	+	2	0	NYX	41218510	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.561000	0.82288	2.154000	0.67381	0.600000	0.82982	CGC		0.701	NYX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056256.1	NM_022567		9	33	0	0	0	0.006214	0	9	33				
CASK	8573	broad.mit.edu	37	X	41495914	41495914	+	Splice_Site	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chrX:41495914C>A	ENST00000378163.1	-	9	1306	c.832G>T	c.(832-834)Gag>Tag	p.E278*	CASK_ENST00000378166.4_Splice_Site_p.E278*|RN7SL406P_ENST00000582021.1_RNA|CASK_ENST00000378158.1_Splice_Site_p.E278*|CASK_ENST00000421587.2_Splice_Site_p.E278*|CASK_ENST00000318588.9_Splice_Site_p.E278*|CASK_ENST00000378154.1_Splice_Site_p.E278*|CASK_ENST00000361962.4_Splice_Site_p.E278*|CASK_ENST00000442742.2_Splice_Site_p.E278*			O14936	CSKP_HUMAN	calcium/calmodulin-dependent serine protein kinase (MAGUK family)	278					calcium ion import (GO:0070509)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of wound healing (GO:0061045)|nucleotide phosphorylation (GO:0046939)|positive regulation of calcium ion import (GO:0090280)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	actin cytoskeleton (GO:0015629)|basement membrane (GO:0005604)|basolateral plasma membrane (GO:0016323)|cell-cell junction (GO:0005911)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nuclear lamina (GO:0005652)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)|protein serine/threonine kinase activity (GO:0004674)	p.E278*(1)		breast(3)|endometrium(5)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|ovary(3)|prostate(1)|stomach(1)	32						CGATCCCGCTCCTATGTAAGA	0.313																																					NSCLC(42;104 1086 3090 27189 35040)	NSCLC(42;104 1086 3090 27189 35040)	uc004dfl.3		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(3)|lung(2)|stomach(1)	6						c.(832-834)GAG>TAG		calcium/calmodulin-dependent serine protein							136.0	115.0	122.0					X																	41495914		2203	4300	6503	SO:0001630	splice_region_variant	8573				cell adhesion	actin cytoskeleton|cytoplasm|nucleus|plasma membrane	ATP binding|calmodulin binding|guanylate kinase activity|protein serine/threonine kinase activity	g.chrX:41495914C>A	AF035582	CCDS14257.1, CCDS48094.1, CCDS48095.1	Xp11.4	2010-02-09			ENSG00000147044	ENSG00000147044			1497	protein-coding gene	gene with protein product		300172	"""trinucleotide repeat containing 8"""	TNRC8		9722958	Standard	NM_003688		Approved	LIN2, CAGH39, FGS4	uc004dfl.4	O14936	OTTHUMG00000021378	ENST00000378163.1:c.832-1G>T	X.37:g.41495914C>A						CASK_uc004dfk.3_Nonsense_Mutation_p.E93*|CASK_uc004dfm.3_Nonsense_Mutation_p.E278*|CASK_uc004dfn.3_Nonsense_Mutation_p.E278*	p.E278*	NM_003688	NP_003679	O14936	CSKP_HUMAN			9	878	-			278					A6NES1|B7ZKY0|O43215|Q17RI4|Q59HA0|Q5VT16|Q5VT17|Q5VT18|Q5VT19|Q66T42|Q9BYH6|Q9NYB2|Q9NYB3	Nonsense_Mutation	SNP	ENST00000378163.1	37	c.832G>T		.	.	.	.	.	.	.	.	.	.	C	37	6.255175	0.97417	.	.	ENSG00000147044	ENST00000421587;ENST00000318588;ENST00000361962;ENST00000378163;ENST00000378158;ENST00000378166;ENST00000442742;ENST00000378154	.	.	.	5.78	5.78	0.91487	.	0.000000	0.64402	D	0.000017	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	18.8226	0.92103	0.0:1.0:0.0:0.0	.	.	.	.	X	278	.	ENSP00000322727:E278X	E	-	1	0	CASK	41380858	1.000000	0.71417	1.000000	0.80357	0.738000	0.42128	7.095000	0.76952	2.577000	0.86979	0.544000	0.68410	GAG		0.313	CASK-007	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000056285.1	NM_003688	Nonsense_Mutation	16	57	1	0	1.99824e-07	0.00499	2.50269e-07	16	57				
USP11	8237	broad.mit.edu	37	X	47106710	47106710	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chrX:47106710G>T	ENST00000218348.3	+	19	2557	c.2557G>T	c.(2557-2559)Gac>Tac	p.D853Y	USP11_ENST00000377107.2_Missense_Mutation_p.D810Y	NM_004651.3	NP_004642.2	P51784	UBP11_HUMAN	ubiquitin specific peptidase 11	853	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin-specific protease activity (GO:0004843)	p.D853Y(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						CAGGGACCTGGACTTCTCTGA	0.557																																							uc004dhp.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)|central_nervous_system(1)	3						c.(2557-2559)GAC>TAC		ubiquitin specific peptidase 11							63.0	57.0	59.0					X																	47106710		2203	4300	6503	SO:0001583	missense	8237				protein deubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chrX:47106710G>T	U44839	CCDS14277.1	Xp11.23	2008-02-05	2005-08-08		ENSG00000102226	ENSG00000102226		"""Ubiquitin-specific peptidases"""	12609	protein-coding gene	gene with protein product		300050	"""ubiquitin specific protease 11"""			12838346	Standard	XM_005272674		Approved	UHX1	uc004dhp.3	P51784	OTTHUMG00000021437	ENST00000218348.3:c.2557G>T	X.37:g.47106710G>T	ENSP00000218348:p.Asp853Tyr					USP11_uc004dhq.2_Missense_Mutation_p.D579Y	p.D853Y	NM_004651	NP_004642	P51784	UBP11_HUMAN			19	2557	+			853					B2RTX1|Q8IUG6|Q9BWE1	Missense_Mutation	SNP	ENST00000218348.3	37	c.2557G>T	CCDS14277.1	.	.	.	.	.	.	.	.	.	.	g	20.5	4.001628	0.74818	.	.	ENSG00000102226	ENST00000377107;ENST00000218348	T;T	0.39229	1.09;1.09	5.5	5.5	0.81552	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.74741	0.3756	H	0.95645	3.7	0.58432	D	0.999998	D;D	0.89917	0.998;1.0	D;D	0.77557	0.973;0.99	T	0.83140	-0.0109	10	0.87932	D	0	-30.8872	15.7125	0.77641	0.0:0.0:1.0:0.0	.	579;853	B3KP28;P51784	.;UBP11_HUMAN	Y	810;853	ENSP00000366311:D810Y;ENSP00000218348:D853Y	ENSP00000218348:D853Y	D	+	1	0	USP11	46991654	1.000000	0.71417	1.000000	0.80357	0.739000	0.42172	3.989000	0.56958	2.307000	0.77673	0.431000	0.28591	GAC		0.557	USP11-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_004651		26	30	1	0	2.41591e-17	0.004656	4.06096e-17	26	30				
HDAC6	10013	broad.mit.edu	37	X	48663850	48663850	+	Missense_Mutation	SNP	C	C	G			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chrX:48663850C>G	ENST00000334136.5	+	5	495	c.317C>G	c.(316-318)cCg>cGg	p.P106R	HDAC6_ENST00000376619.2_Missense_Mutation_p.P106R|HDAC6_ENST00000469223.1_3'UTR|HDAC6_ENST00000444343.2_Missense_Mutation_p.P120R|HDAC6_ENST00000413163.2_Missense_Mutation_p.P51R			Q9UBN7	HDAC6_HUMAN	histone deacetylase 6	106	Histone deacetylase 1.				aggresome assembly (GO:0070842)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to misfolded protein (GO:0071218)|cellular response to topologically incorrect protein (GO:0035967)|histone deacetylation (GO:0016575)|Hsp90 deacetylation (GO:0070846)|intracellular protein transport (GO:0006886)|lysosome localization (GO:0032418)|macroautophagy (GO:0016236)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|negative regulation of hydrogen peroxide metabolic process (GO:0010727)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of oxidoreductase activity (GO:0051354)|negative regulation of protein complex disassembly (GO:0043242)|negative regulation of proteolysis (GO:0045861)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine deacetylation (GO:0034983)|polyubiquitinated misfolded protein transport (GO:0070845)|positive regulation of chaperone-mediated protein complex assembly (GO:0090035)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of hydrogen peroxide-mediated programmed cell death (GO:1901300)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of signal transduction (GO:0009967)|protein complex disassembly (GO:0043241)|protein deacetylation (GO:0006476)|protein polyubiquitination (GO:0000209)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of establishment of protein localization (GO:0070201)|regulation of gene expression, epigenetic (GO:0040029)|regulation of microtubule-based movement (GO:0060632)|regulation of receptor activity (GO:0010469)|response to growth factor (GO:0070848)|response to misfolded protein (GO:0051788)|response to organic substance (GO:0010033)|response to toxic substance (GO:0009636)|transcription, DNA-templated (GO:0006351)|tubulin deacetylation (GO:0090042)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	aggresome (GO:0016235)|axon (GO:0030424)|caveola (GO:0005901)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|dendrite (GO:0030425)|histone deacetylase complex (GO:0000118)|inclusion body (GO:0016234)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)	alpha-tubulin binding (GO:0043014)|beta-catenin binding (GO:0008013)|core promoter binding (GO:0001047)|dynein complex binding (GO:0070840)|enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|Hsp90 protein binding (GO:0051879)|microtubule binding (GO:0008017)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|polyubiquitin binding (GO:0031593)|tau protein binding (GO:0048156)|tubulin deacetylase activity (GO:0042903)|zinc ion binding (GO:0008270)	p.P106R(1)		breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	40					Vorinostat(DB02546)	CCCAGCTTCCCGGAAGGCCCT	0.592																																					Pancreas(112;205 1675 2305 8976 15959)	Pancreas(112;205 1675 2305 8976 15959)	uc011mmi.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(1)	4						c.(316-318)CCG>CGG		histone deacetylase 6	Vorinostat(DB02546)						45.0	37.0	40.0					X																	48663850		2203	4300	6503	SO:0001583	missense	10013				aggresome assembly|cellular response to hydrogen peroxide|Hsp90 deacetylation|lysosome localization|macroautophagy|misfolded or incompletely synthesized protein catabolic process|negative regulation of proteolysis|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|polyubiquitinated misfolded protein transport|positive regulation of apoptosis|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of epithelial cell migration|positive regulation of receptor biosynthetic process|positive regulation of signal transduction|regulation of androgen receptor signaling pathway|regulation of receptor activity|response to growth factor stimulus|response to toxin|transcription, DNA-dependent|tubulin deacetylation	aggresome|caveola|cell leading edge|cytosol|histone deacetylase complex|microtubule associated complex|perinuclear region of cytoplasm	actin binding|alpha-tubulin binding|beta-catenin binding|dynein complex binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|Hsp90 protein binding|microtubule binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|polyubiquitin binding|tau protein binding|tubulin deacetylase activity|zinc ion binding	g.chrX:48663850C>G	AF132609	CCDS14306.1	Xp11.23	2014-06-12			ENSG00000094631	ENSG00000094631			14064	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 90"""	300272				10220385, 10048485	Standard	NM_006044		Approved	KIAA0901, JM21, HD6, FLJ16239, PPP1R90	uc004dks.1	Q9UBN7	OTTHUMG00000034496	ENST00000334136.5:c.317C>G	X.37:g.48663850C>G	ENSP00000334061:p.Pro106Arg					HDAC6_uc004dkr.1_Missense_Mutation_p.P106R|HDAC6_uc004dks.1_Missense_Mutation_p.P106R|HDAC6_uc010nig.1_5'UTR|HDAC6_uc004dkt.1_Missense_Mutation_p.P106R|HDAC6_uc004dku.3_Missense_Mutation_p.P106R|HDAC6_uc011mmj.1_Missense_Mutation_p.P51R|HDAC6_uc011mmk.1_Missense_Mutation_p.P87R	p.P106R	NM_006044	NP_006035	Q9UBN7	HDAC6_HUMAN			5	412	+			106			Histone deacetylase 1.		O94975|Q6NT75|Q7L3E5|Q96CY0	Missense_Mutation	SNP	ENST00000334136.5	37	c.317C>G	CCDS14306.1	.	.	.	.	.	.	.	.	.	.	C	17.62	3.434135	0.62955	.	.	ENSG00000094631	ENST00000423941;ENST00000376643;ENST00000444343;ENST00000376610;ENST00000334136;ENST00000376619;ENST00000436813;ENST00000413163;ENST00000441703;ENST00000426196;ENST00000443563;ENST00000440653	T;T;T;T;T;T;T;T;T;T	0.73681	-0.77;-0.77;-0.77;-0.77;-0.77;-0.77;-0.77;-0.77;-0.77;-0.77	3.5	2.63	0.31362	Histone deacetylase domain (2);	0.249000	0.31113	N	0.008226	D	0.87200	0.6118	M	0.93898	3.47	0.46260	D	0.998951	D;D;D;D	0.89917	1.0;0.986;1.0;1.0	D;D;D;D	0.97110	1.0;0.977;1.0;0.991	D	0.86489	0.1796	10	0.56958	D	0.05	-7.4796	8.0795	0.30737	0.0:0.8715:0.0:0.1285	.	96;51;106;106	B4DZN1;E7EUZ1;Q9UBN7;Q9BRX7	.;.;HDAC6_HUMAN;.	R	106;106;120;106;106;106;106;51;106;106;106;106	ENSP00000365831:P106R;ENSP00000398566:P120R;ENSP00000365795:P106R;ENSP00000334061:P106R;ENSP00000365804:P106R;ENSP00000398801:P51R;ENSP00000393916:P106R;ENSP00000402189:P106R;ENSP00000402751:P106R;ENSP00000394377:P106R	ENSP00000334061:P106R	P	+	2	0	HDAC6	48548794	0.998000	0.40836	0.384000	0.26145	0.486000	0.33341	2.845000	0.48254	0.855000	0.35359	0.292000	0.19580	CCG		0.592	HDAC6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083394.2	NM_006044		6	9	0	0	0	0.004482	0	6	9				
CACNA1F	778	broad.mit.edu	37	X	49063081	49063081	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chrX:49063081C>A	ENST00000376265.2	-	46	5457	c.5396G>T	c.(5395-5397)cGg>cTg	p.R1799L	CACNA1F_ENST00000323022.5_Missense_Mutation_p.R1788L|CACNA1F_ENST00000376251.1_Missense_Mutation_p.R1734L	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	1799					axonogenesis (GO:0007409)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|dendrite morphogenesis (GO:0048813)|detection of light stimulus involved in visual perception (GO:0050908)|membrane depolarization during action potential (GO:0086010)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|perikaryon (GO:0043204)|photoreceptor outer segment (GO:0001750)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.R1799L(1)		autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	GGAGGGCTTCCGACCTGGGGG	0.612																																							uc004dnb.2		NA																	1	Substitution - Missense(1)		lung(1)	breast(3)|ovary(1)|kidney(1)|skin(1)	6						c.(5395-5397)CGG>CTG		calcium channel, voltage-dependent, L type,	Verapamil(DB00661)						38.0	37.0	38.0					X																	49063081		2203	4300	6503	SO:0001583	missense	778				axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	g.chrX:49063081C>A	AA019975	CCDS35253.1, CCDS59166.1, CCDS59167.1	Xp11.23	2013-01-23	2007-02-16		ENSG00000102001	ENSG00000102001		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1393	protein-coding gene	gene with protein product		300110	"""Aland island eye disease (Forsius-Eriksson ocular albinism, ocular albinism type 2)"""	CSNB2, AIED		9344658, 9662400, 16382099, 12111638, 17525176	Standard	NM_005183		Approved	Cav1.4, JM8, JMC8, CSNBX2, CORDX3, CSNB2A, OA2	uc010nip.3	O60840	OTTHUMG00000022703	ENST00000376265.2:c.5396G>T	X.37:g.49063081C>A	ENSP00000365441:p.Arg1799Leu					CACNA1F_uc010nip.2_Missense_Mutation_p.R1788L	p.R1799L	NM_005183	NP_005174	O60840	CAC1F_HUMAN			46	5458	-			1799			Cytoplasmic (Potential).		A6NI29|F5CIQ9|O43901|O95226|Q9UHB1	Missense_Mutation	SNP	ENST00000376265.2	37	c.5396G>T	CCDS35253.1	.	.	.	.	.	.	.	.	.	.	C	12.55	1.970804	0.34754	.	.	ENSG00000102001	ENST00000376251;ENST00000323022;ENST00000376265	T;T;T	0.61274	0.12;0.12;0.12	5.36	2.65	0.31530	.	1.159420	0.06466	N	0.730394	T	0.51363	0.1670	M	0.72353	2.195	0.09310	N	0.999999	P;P	0.43701	0.815;0.719	B;B	0.32583	0.148;0.07	T	0.44390	-0.9331	10	0.59425	D	0.04	.	5.485	0.16745	0.0:0.6082:0.1411:0.2507	.	1788;1799	F5CIQ9;O60840	.;CAC1F_HUMAN	L	1734;1788;1799	ENSP00000365427:R1734L;ENSP00000321618:R1788L;ENSP00000365441:R1799L	ENSP00000321618:R1788L	R	-	2	0	CACNA1F	48950025	0.994000	0.37717	0.817000	0.32601	0.881000	0.50899	2.090000	0.41682	0.131000	0.18576	-0.344000	0.07964	CGG		0.612	CACNA1F-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358157.1	NM_005183		7	33	1	0	0.000274275	0.004482	0.00030271	7	33				
CACNA1F	778	broad.mit.edu	37	X	49063213	49063213	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chrX:49063213G>A	ENST00000376265.2	-	45	5429	c.5368C>T	c.(5368-5370)Cgt>Tgt	p.R1790C	CACNA1F_ENST00000323022.5_Missense_Mutation_p.R1779C|CACNA1F_ENST00000376251.1_Missense_Mutation_p.R1725C	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	1790					axonogenesis (GO:0007409)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|dendrite morphogenesis (GO:0048813)|detection of light stimulus involved in visual perception (GO:0050908)|membrane depolarization during action potential (GO:0086010)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|perikaryon (GO:0043204)|photoreceptor outer segment (GO:0001750)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.R1790C(1)		autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	GGCAGCAGACGGCGGCGTGGT	0.612																																							uc004dnb.2		NA																	1	Substitution - Missense(1)		lung(1)	breast(3)|ovary(1)|kidney(1)|skin(1)	6						c.(5368-5370)CGT>TGT		calcium channel, voltage-dependent, L type,	Verapamil(DB00661)						47.0	47.0	47.0					X																	49063213		2203	4300	6503	SO:0001583	missense	778				axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	g.chrX:49063213G>A	AA019975	CCDS35253.1, CCDS59166.1, CCDS59167.1	Xp11.23	2013-01-23	2007-02-16		ENSG00000102001	ENSG00000102001		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1393	protein-coding gene	gene with protein product		300110	"""Aland island eye disease (Forsius-Eriksson ocular albinism, ocular albinism type 2)"""	CSNB2, AIED		9344658, 9662400, 16382099, 12111638, 17525176	Standard	NM_005183		Approved	Cav1.4, JM8, JMC8, CSNBX2, CORDX3, CSNB2A, OA2	uc010nip.3	O60840	OTTHUMG00000022703	ENST00000376265.2:c.5368C>T	X.37:g.49063213G>A	ENSP00000365441:p.Arg1790Cys					CACNA1F_uc010nip.2_Missense_Mutation_p.R1779C	p.R1790C	NM_005183	NP_005174	O60840	CAC1F_HUMAN			45	5430	-			1790			Cytoplasmic (Potential).		A6NI29|F5CIQ9|O43901|O95226|Q9UHB1	Missense_Mutation	SNP	ENST00000376265.2	37	c.5368C>T	CCDS35253.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.378641	0.82682	.	.	ENSG00000102001	ENST00000376251;ENST00000323022;ENST00000376265	T;T;T	0.61627	0.09;0.09;0.09	5.6	5.6	0.85130	.	0.767914	0.12415	N	0.470940	T	0.75265	0.3826	M	0.69358	2.11	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.99	T	0.70392	-0.4884	10	0.39692	T	0.17	.	15.8861	0.79251	0.0:0.0:1.0:0.0	.	1779;1790	F5CIQ9;O60840	.;CAC1F_HUMAN	C	1725;1779;1790	ENSP00000365427:R1725C;ENSP00000321618:R1779C;ENSP00000365441:R1790C	ENSP00000321618:R1779C	R	-	1	0	CACNA1F	48950157	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	6.929000	0.75852	2.350000	0.79820	0.529000	0.55759	CGT		0.612	CACNA1F-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358157.1	NM_005183		22	30	0	0	0	0.00632	0	22	30				
CCNB3	85417	broad.mit.edu	37	X	50089805	50089805	+	Splice_Site	SNP	G	G	T	rs61751434	byFrequency	TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chrX:50089805G>T	ENST00000376042.1	+	10	4107	c.3809G>T	c.(3808-3810)aGg>aTg	p.R1270M	CCNB3_ENST00000348603.2_Splice_Site_p.R166M|CCNB3_ENST00000376038.1_Splice_Site_p.R166M|CCNB3_ENST00000276014.7_Splice_Site_p.R1270M			Q8WWL7	CCNB3_HUMAN	cyclin B3	1270					meiotic nuclear division (GO:0007126)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)	nucleus (GO:0005634)		p.R1270M(2)		breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					AGATATGCTAGGGTAAGAGAG	0.468																																							uc004dox.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)|lung(3)|large_intestine(1)|pancreas(1)	9						c.(3808-3810)AGG>ATG		cyclin B3 isoform 3							136.0	88.0	105.0					X																	50089805		2203	4300	6503	SO:0001630	splice_region_variant	85417				cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding	g.chrX:50089805G>T	AJ314764	CCDS14331.1, CCDS14332.1	Xp11	2008-07-03			ENSG00000147082	ENSG00000147082			18709	protein-coding gene	gene with protein product		300456				11846420, 12185076	Standard	XM_006724610		Approved		uc004doy.3	Q8WWL7	OTTHUMG00000021519	ENST00000376042.1:c.3810+1G>T	X.37:g.50089805G>T						CCNB3_uc004doy.2_Missense_Mutation_p.R1270M|CCNB3_uc004doz.2_Missense_Mutation_p.R166M|CCNB3_uc010njq.2_Missense_Mutation_p.R162M|CCNB3_uc004dpa.2_Missense_Mutation_p.R109M	p.R1270M	NM_033031	NP_149020	Q8WWL7	CCNB3_HUMAN			10	4107	+	Ovarian(276;0.236)		1270					B1AQI5|B1AQI6|Q96SB5|Q96SB6|Q96SB7|Q9NT38	Missense_Mutation	SNP	ENST00000376042.1	37	c.3809G>T	CCDS14331.1	.	.	.	.	.	.	.	.	.	.	G	15.19	2.758769	0.49468	.	.	ENSG00000147082	ENST00000376042;ENST00000376038;ENST00000348603;ENST00000276014	T;T;T;T	0.25749	1.78;1.78;1.78;1.78	5.01	-9.7	0.00521	Cyclin, C-terminal (1);Cyclin-like (3);	0.973996	0.08447	N	0.944620	T	0.30230	0.0758	M	0.84156	2.68	0.29240	N	0.87268	P;P;P	0.46621	0.467;0.881;0.599	B;P;B	0.49528	0.356;0.614;0.356	T	0.11470	-1.0586	9	.	.	.	.	2.928	0.05791	0.5242:0.1781:0.0951:0.2026	.	1270;166;1270	A8K8T9;Q8WWL7-2;Q8WWL7	.;.;CCNB3_HUMAN	M	1270;166;166;1270	ENSP00000365210:R1270M;ENSP00000365206:R166M;ENSP00000338682:R166M;ENSP00000276014:R1270M	.	R	+	2	0	CCNB3	50106545	0.986000	0.35501	0.002000	0.10522	0.436000	0.31835	0.237000	0.17985	-2.387000	0.00589	-0.281000	0.10026	AGG		0.468	CCNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056558.1		Missense_Mutation	9	18	1	0	7.48243e-07	0.006214	9.20222e-07	9	18				
KLF8	11279	broad.mit.edu	37	X	56310868	56310868	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chrX:56310868C>A	ENST00000468660.1	+	6	1309	c.1021C>A	c.(1021-1023)Cgc>Agc	p.R341S	KLF8_ENST00000374928.3_3'UTR	NM_007250.4	NP_009181.2	O95600	KLF8_HUMAN	Kruppel-like factor 8	341					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R341S(1)		kidney(4)|large_intestine(6)|lung(5)|ovary(1)	16						AGACTGCAACCGCAGCTTTTC	0.562																																							uc004dur.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1021-1023)CGC>AGC		Kruppel-like factor 8 isoform 1							75.0	60.0	65.0					X																	56310868		2203	4300	6503	SO:0001583	missense	11279				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chrX:56310868C>A	U28282	CCDS14373.1, CCDS55428.1	Xp11.21	2013-01-08			ENSG00000102349	ENSG00000102349		"""Zinc fingers, C2H2-type"", ""Kruppel-like transcription factors"""	6351	protein-coding gene	gene with protein product		300286					Standard	NM_007250		Approved	BKLF3, ZNF741, DXS741	uc004dur.3	O95600	OTTHUMG00000021666	ENST00000468660.1:c.1021C>A	X.37:g.56310868C>A	ENSP00000417303:p.Arg341Ser					KLF8_uc011mop.1_3'UTR|KLF8_uc010nkh.2_RNA	p.R341S	NM_007250	NP_009181	O95600	KLF8_HUMAN			6	1967	+			341			C2H2-type 3.		B4DJN3|E7EQQ8|L0R3U8|L0R4U2|Q2M246|Q59GV5|Q5HYQ5|Q5JXP7|Q6MZJ7|Q9UGC4	Missense_Mutation	SNP	ENST00000468660.1	37	c.1021C>A	CCDS14373.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.670762	0.88348	.	.	ENSG00000102349	ENST00000468660	T	0.34859	1.34	3.93	3.93	0.45458	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000002	T	0.51736	0.1692	L	0.47716	1.5	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.55724	-0.8096	10	0.87932	D	0	.	13.3786	0.60754	0.0:1.0:0.0:0.0	.	341	O95600	KLF8_HUMAN	S	341	ENSP00000417303:R341S	ENSP00000417303:R341S	R	+	1	0	KLF8	56327593	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.177000	0.77650	1.938000	0.56188	0.597000	0.82753	CGC		0.562	KLF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056887.2	NM_007250		3	24	1	0	0.004672	0.004672	0.00495824	3	24				
HEPH	9843	broad.mit.edu	37	X	65413471	65413471	+	Nonsense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chrX:65413471G>T	ENST00000343002.2	+	7	2024	c.1360G>T	c.(1360-1362)Gga>Tga	p.G454*	HEPH_ENST00000419594.1_Nonsense_Mutation_p.G457*|HEPH_ENST00000374727.3_Nonsense_Mutation_p.G457*|HEPH_ENST00000519389.1_Nonsense_Mutation_p.G508*|HEPH_ENST00000441993.2_Nonsense_Mutation_p.G457*|HEPH_ENST00000336279.5_Nonsense_Mutation_p.G187*			Q9BQS7	HEPH_HUMAN	hephaestin	454	Plastocyanin-like 3.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|iron ion transport (GO:0006826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	copper ion binding (GO:0005507)|ferrous iron binding (GO:0008198)|ferroxidase activity (GO:0004322)	p.G454*(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						TAGGCATCTTGGAATCCTGGG	0.428																																							uc011moz.1		NA																	1	Substitution - Nonsense(1)		lung(1)	lung(5)|ovary(4)	9						c.(1369-1371)GGA>TGA		hephaestin isoform a							42.0	38.0	40.0					X																	65413471		2203	4300	6503	SO:0001587	stop_gained	9843				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity	g.chrX:65413471G>T	AB014598	CCDS14384.2, CCDS14385.1, CCDS48133.1, CCDS14384.3, CCDS65277.1	Xq11-q12	2008-02-05			ENSG00000089472	ENSG00000089472			4866	protein-coding gene	gene with protein product		300167				9988272, 9734811	Standard	NM_014799		Approved	KIAA0698, CPL	uc011moz.2	Q9BQS7	OTTHUMG00000021732	ENST00000343002.2:c.1360G>T	X.37:g.65413471G>T	ENSP00000343939:p.Gly454*					HEPH_uc004dwn.2_Nonsense_Mutation_p.G457*|HEPH_uc004dwo.2_Nonsense_Mutation_p.G187*|HEPH_uc010nkr.2_Nonsense_Mutation_p.G457*|HEPH_uc011mpa.1_Nonsense_Mutation_p.G457*	p.G457*	NM_138737	NP_620074	Q9BQS7	HEPH_HUMAN			8	1429	+			454			Extracellular (Potential).|Plastocyanin-like 3.		B1AJX8|D3DVT7|E9PHN8|O75180|Q6UW45|Q9C058	Nonsense_Mutation	SNP	ENST00000343002.2	37	c.1369G>T		.	.	.	.	.	.	.	.	.	.	G	38	7.060027	0.98036	.	.	ENSG00000089472	ENST00000519389;ENST00000374727;ENST00000336279;ENST00000441993;ENST00000419594;ENST00000343002;ENST00000425114	.	.	.	5.39	5.39	0.77823	.	0.055936	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	16.7	0.85346	0.0:0.0:1.0:0.0	.	.	.	.	X	508;457;187;457;457;454;454	.	ENSP00000337418:G187X	G	+	1	0	HEPH	65330196	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	7.678000	0.84035	2.259000	0.74868	0.594000	0.82650	GGA		0.428	HEPH-002	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000056995.1	NM_138737		14	32	1	0	1.15088e-07	0.004007	1.44674e-07	14	32				
HEPH	9843	broad.mit.edu	37	X	65428009	65428009	+	Silent	SNP	T	T	C			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chrX:65428009T>C	ENST00000343002.2	+	14	3148	c.2484T>C	c.(2482-2484)aaT>aaC	p.N828N	HEPH_ENST00000419594.1_Silent_p.N639N|HEPH_ENST00000374727.3_Silent_p.N831N|HEPH_ENST00000519389.1_Silent_p.N882N|HEPH_ENST00000441993.2_Silent_p.N831N|HEPH_ENST00000336279.5_Silent_p.N561N			Q9BQS7	HEPH_HUMAN	hephaestin	828	Plastocyanin-like 5.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|iron ion transport (GO:0006826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	copper ion binding (GO:0005507)|ferrous iron binding (GO:0008198)|ferroxidase activity (GO:0004322)	p.N828N(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						TATTCAAGAATAATGCCAGCC	0.428																																							uc011moz.1		NA																	1	Substitution - coding silent(1)		lung(1)	lung(5)|ovary(4)	9						c.(2491-2493)AAT>AAC		hephaestin isoform a							85.0	63.0	71.0					X																	65428009		2203	4300	6503	SO:0001819	synonymous_variant	9843				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity	g.chrX:65428009T>C	AB014598	CCDS14384.2, CCDS14385.1, CCDS48133.1, CCDS14384.3, CCDS65277.1	Xq11-q12	2008-02-05			ENSG00000089472	ENSG00000089472			4866	protein-coding gene	gene with protein product		300167				9988272, 9734811	Standard	NM_014799		Approved	KIAA0698, CPL	uc011moz.2	Q9BQS7	OTTHUMG00000021732	ENST00000343002.2:c.2484T>C	X.37:g.65428009T>C						HEPH_uc004dwn.2_Silent_p.N831N|HEPH_uc004dwo.2_Silent_p.N561N|HEPH_uc010nkr.2_Silent_p.N639N|HEPH_uc011mpa.1_Silent_p.N831N|HEPH_uc010nks.2_Silent_p.N120N	p.N831N	NM_138737	NP_620074	Q9BQS7	HEPH_HUMAN			15	2553	+			828			Extracellular (Potential).|Plastocyanin-like 5.		B1AJX8|D3DVT7|E9PHN8|O75180|Q6UW45|Q9C058	Silent	SNP	ENST00000343002.2	37	c.2493T>C																																																																																					0.428	HEPH-002	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000056995.1	NM_138737		8	9	0	0	0	0.004482	0	8	9				
EDA	1896	broad.mit.edu	37	X	68836384	68836384	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chrX:68836384C>T	ENST00000374552.4	+	1	474	c.232C>T	c.(232-234)Ctt>Ttt	p.L78F	EDA_ENST00000527388.1_Missense_Mutation_p.L78F|EDA_ENST00000524573.1_Missense_Mutation_p.L78F|EDA_ENST00000338901.3_Missense_Mutation_p.L78F|EDA_ENST00000502251.1_3'UTR|EDA_ENST00000525810.1_Missense_Mutation_p.L78F|EDA_ENST00000374553.2_Missense_Mutation_p.L78F	NM_001399.4	NP_001390.1	Q92838	EDA_HUMAN	ectodysplasin A	78					cell differentiation (GO:0030154)|cell-matrix adhesion (GO:0007160)|ectoderm development (GO:0007398)|gene expression (GO:0010467)|hair follicle placode formation (GO:0060789)|immune response (GO:0006955)|odontogenesis of dentin-containing tooth (GO:0042475)|pigmentation (GO:0043473)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|salivary gland cavitation (GO:0060662)|signal transduction (GO:0007165)|trachea gland development (GO:0061153)	apical part of cell (GO:0045177)|collagen trimer (GO:0005581)|cytoskeleton (GO:0005856)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)	p.L78F(2)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|urinary_tract(1)	14						CGAGTCCCGCCTTGGCGGCTC	0.672																																							uc004dxs.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|large_intestine(1)	3						c.(232-234)CTT>TTT		ectodysplasin A isoform EDA-A1							41.0	35.0	37.0					X																	68836384		2203	4300	6503	SO:0001583	missense	1896				cell differentiation|ectoderm development|immune response|positive regulation of NF-kappaB transcription factor activity|signal transduction	collagen|cytoskeleton|membrane fraction	tumor necrosis factor receptor binding	g.chrX:68836384C>T	U59227	CCDS14394.1, CCDS35318.1, CCDS35319.1, CCDS43966.1, CCDS35318.2, CCDS35319.2, CCDS55436.1	Xq12-q13.1	2013-05-22	2004-08-09	2004-08-12	ENSG00000158813	ENSG00000158813		"""Tumor necrosis factor (ligand) superfamily"""	3157	protein-coding gene	gene with protein product		300451	"""ectodermal dysplasia 1, anhidrotic"", ""oligodontia 1"""	ED1, EDA2, ODT1		8696334, 18657636, 16583127	Standard	NM_001005612		Approved	EDA1, XLHED, HED, XHED, ED1-A1, ED1-A2, EDA-A1, EDA-A2	uc004dxs.3	Q92838	OTTHUMG00000021764	ENST00000374552.4:c.232C>T	X.37:g.68836384C>T	ENSP00000363680:p.Leu78Phe					EDA_uc004dxr.2_Missense_Mutation_p.L78F|EDA_uc011mpj.1_Missense_Mutation_p.L78F|EDA_uc004dxn.1_Missense_Mutation_p.L78F|EDA_uc004dxm.1_Missense_Mutation_p.L78F|EDA_uc004dxp.1_Missense_Mutation_p.L78F|EDA_uc004dxq.1_Missense_Mutation_p.L78F|EDA_uc004dxl.1_Missense_Mutation_p.L78F	p.L78F	NM_001399	NP_001390	Q92838	EDA_HUMAN			1	474	+			78			Extracellular (Potential).		A0AUZ2|A2A337|B7ZLU2|B7ZLU4|O75910|Q5JS00|Q5JUM7|Q9UP77|Q9Y6L0|Q9Y6L1|Q9Y6L2|Q9Y6L3|Q9Y6L4	Missense_Mutation	SNP	ENST00000374552.4	37	c.232C>T	CCDS14394.1	.	.	.	.	.	.	.	.	.	.	C	10.51	1.370915	0.24771	.	.	ENSG00000158813	ENST00000513754;ENST00000338901;ENST00000374552;ENST00000374553;ENST00000525810;ENST00000527388;ENST00000524573	D;D;D;D;D;D	0.97976	-4.64;-3.86;-3.9;-4.54;-4.64;-3.75	4.97	3.21	0.36854	.	0.366789	0.20123	N	0.098761	D	0.93167	0.7824	N	0.19112	0.55	0.27871	N	0.940038	B;B;B;B;B;B;B;B	0.23540	0.0;0.0;0.0;0.028;0.028;0.004;0.087;0.028	B;B;B;B;B;B;B;B	0.25759	0.002;0.001;0.002;0.029;0.018;0.012;0.063;0.029	D	0.87775	0.2608	10	0.59425	D	0.04	-4.4532	6.6809	0.23119	0.0:0.7831:0.0:0.2169	.	78;78;78;78;78;78;78;78	Q92838-9;Q92838;Q92838-3;Q92838-8;Q92838-6;Q92838-2;Q92838-7;Q92838-5	.;EDA_HUMAN;.;.;.;.;.;.	F	78	ENSP00000340611:L78F;ENSP00000363680:L78F;ENSP00000363681:L78F;ENSP00000434195:L78F;ENSP00000434861:L78F;ENSP00000432585:L78F	ENSP00000340611:L78F	L	+	1	0	EDA	68753109	0.968000	0.33430	0.991000	0.47740	0.866000	0.49608	0.611000	0.24268	0.503000	0.28060	0.600000	0.82982	CTT		0.672	EDA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057048.2	NM_001399		7	31	0	0	0	0.001984	0	7	31				
ACRC	93953	broad.mit.edu	37	X	70811981	70811981	+	Silent	SNP	T	T	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chrX:70811981T>A	ENST00000373695.1	+	2	606	c.69T>A	c.(67-69)ctT>ctA	p.L23L	ACRC_ENST00000373696.3_Silent_p.L23L			Q96QF7	ACRC_HUMAN	acidic repeat containing	23						nucleus (GO:0005634)		p.L23L(1)		autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					GTTACATCCTTAATGTTCAGT	0.373																																							uc004eae.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(67-69)CTT>CTA		ACRC protein							195.0	159.0	171.0					X																	70811981		2203	4299	6502	SO:0001819	synonymous_variant	93953					nucleus		g.chrX:70811981T>A	AJ311392	CCDS35326.1	Xq13.1	2010-08-05			ENSG00000147174	ENSG00000147174			15805	protein-coding gene	gene with protein product		300369					Standard	NM_052957		Approved		uc004eae.2	Q96QF7	OTTHUMG00000033327	ENST00000373695.1:c.69T>A	X.37:g.70811981T>A						BCYRN1_uc011mpt.1_Intron	p.L23L	NM_052957	NP_443189	Q96QF7	ACRC_HUMAN			3	570	+	Renal(35;0.156)		23					B9EG62	Silent	SNP	ENST00000373695.1	37	c.69T>A	CCDS35326.1																																																																																				0.373	ACRC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081856.1			15	73	0	0	0	0.00245	0	15	73				
ATRX	546	broad.mit.edu	37	X	76953071	76953071	+	Splice_Site	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chrX:76953071C>A	ENST00000373344.5	-	4	456	c.242G>T	c.(241-243)aGg>aTg	p.R81M	ATRX_ENST00000395603.3_Splice_Site_p.R81M|ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000373341.1_Splice_Site_p.R42M	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	81					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.R81M(2)|p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						ATCAACCAACCTCTTTGATCG	0.343			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																																uc004ecp.3		NA		Rec	yes		X	Xq21.1	546	Mis|F|N	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			Pancreatic neuroendocrine tumors		3	Substitution - Missense(2)|Unknown(1)		lung(2)|bone(1)	haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1)	30						c.(241-243)AGG>ATG		transcriptional regulator ATRX isoform 1	Phosphatidylserine(DB00144)						123.0	115.0	117.0					X																	76953071		2203	4296	6499	SO:0001630	splice_region_variant	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76953071C>A	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.242+1G>T	X.37:g.76953071C>A						ATRX_uc004ecq.3_Missense_Mutation_p.R81M|ATRX_uc004eco.3_Translation_Start_Site|ATRX_uc004ecr.2_Missense_Mutation_p.R81M|ATRX_uc010nlx.1_Missense_Mutation_p.R81M|ATRX_uc010nly.1_Missense_Mutation_p.R26M	p.R81M	NM_000489	NP_000480	P46100	ATRX_HUMAN			4	474	-			81					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Missense_Mutation	SNP	ENST00000373344.5	37	c.242G>T	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	C	15.98	2.991974	0.54041	.	.	ENSG00000085224	ENST00000373344;ENST00000395603;ENST00000400862;ENST00000400861;ENST00000373341	D;D;D	0.99158	-3.26;-5.5;-4.03	5.03	4.17	0.49024	.	0.000000	0.85682	U	0.000000	D	0.98953	0.9644	M	0.72118	2.19	0.58432	D	0.999993	D;D;D;D	0.89917	0.999;1.0;0.999;0.999	D;D;D;D	0.91635	0.993;0.999;0.995;0.993	D	0.98928	1.0786	9	.	.	.	-7.2888	10.8301	0.46654	0.0:0.9079:0.0:0.0921	.	81;81;81;81	A4LAA3;P46100-6;P46100-4;P46100	.;.;.;ATRX_HUMAN	M	81;81;76;42;42	ENSP00000362441:R81M;ENSP00000378967:R81M;ENSP00000362438:R42M	.	R	-	2	0	ATRX	76839727	1.000000	0.71417	1.000000	0.80357	0.630000	0.37929	5.295000	0.65692	1.017000	0.39495	-0.276000	0.10085	AGG		0.343	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489	Missense_Mutation	13	82	1	0	1.62849e-17	0.004007	2.76006e-17	13	82				
SATL1	340562	broad.mit.edu	37	X	84362769	84362769	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chrX:84362769G>T	ENST00000395409.3	-	1	1205	c.645C>A	c.(643-645)agC>agA	p.S215R	SATL1_ENST00000332921.5_Missense_Mutation_p.S215R|SATL1_ENST00000509231.1_Missense_Mutation_p.S402R			Q86VE3	SATL1_HUMAN	spermidine/spermine N1-acetyl transferase-like 1	215	Gln-rich.						N-acetyltransferase activity (GO:0008080)	p.S402R(1)		NS(1)|breast(5)|endometrium(2)|large_intestine(3)|lung(13)|skin(3)|stomach(1)|urinary_tract(1)	29						TGCCTGATTGGCTGGTGCCTA	0.537																																							uc011mqx.1		NA																	1	Substitution - Missense(1)		lung(1)	breast(2)	2						c.(1204-1206)AGC>AGA		spermidine/spermine N1-acetyl transferase-like 1							200.0	135.0	157.0					X																	84362769		2203	4300	6503	SO:0001583	missense	340562						N-acetyltransferase activity	g.chrX:84362769G>T	BC043215	CCDS35343.1, CCDS35343.2	Xq21	2008-02-05			ENSG00000184788	ENSG00000184788			27992	protein-coding gene	gene with protein product						12477932	Standard	NM_001012980		Approved		uc004een.3	Q86VE3	OTTHUMG00000021931	ENST00000395409.3:c.645C>A	X.37:g.84362769G>T	ENSP00000378804:p.Ser215Arg					SATL1_uc004een.2_Missense_Mutation_p.S402R	p.S402R	NM_001163541	NP_001157013	Q86VE3	SATL1_HUMAN			1	1206	-			215			Gln-rich.		A0AVK7|E9PB72|Q5H8V9	Missense_Mutation	SNP	ENST00000395409.3	37	c.1206C>A		.	.	.	.	.	.	.	.	.	.	G	1.398	-0.578802	0.03854	.	.	ENSG00000184788	ENST00000395409;ENST00000332921;ENST00000509231	T;T;T	0.47528	0.84;0.84;0.84	4.26	-6.3	0.02007	.	.	.	.	.	T	0.30510	0.0767	L	0.46157	1.445	0.09310	N	1	B;B	0.13145	0.002;0.007	B;B	0.11329	0.002;0.006	T	0.30031	-0.9992	9	0.54805	T	0.06	-1.5682	0.2226	0.00170	0.2761:0.2046:0.2799:0.2394	.	215;402	Q86VE3;E9PB72	SATL1_HUMAN;.	R	215;215;402	ENSP00000378804:S215R;ENSP00000329115:S215R;ENSP00000425421:S402R	ENSP00000329115:S215R	S	-	3	2	SATL1	84249425	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.124000	0.10595	-1.932000	0.01053	-2.300000	0.00261	AGC		0.537	SATL1-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		XM_291339		11	61	1	0	0.00010058	0.001368	0.000112959	11	61				
TGIF2LX	90316	broad.mit.edu	37	X	89177645	89177645	+	Silent	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chrX:89177645C>A	ENST00000561129.2	+	1	691	c.561C>A	c.(559-561)gcC>gcA	p.A187A	TGIF2LX_ENST00000283891.5_Silent_p.A187A			Q8IUE1	TF2LX_HUMAN	TGFB-induced factor homeobox 2-like, X-linked	187					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.A187A(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(29)|ovary(1)|skin(3)|urinary_tract(1)	40						CCGGAATAGCCCAGCCGAAGA	0.567																																							uc004efe.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(559-561)GCC>GCA		TGFB-induced factor homeobox 2-like, X-linked							68.0	73.0	72.0					X																	89177645		2203	4300	6503	SO:0001819	synonymous_variant	90316					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:89177645C>A	AF497480	CCDS14459.1	Xq21.31	2014-05-14	2007-02-07		ENSG00000153779	ENSG00000153779		"""Homeoboxes / TALE class"""	18570	protein-coding gene	gene with protein product		300411	"""TGFB-induced factor 2-like, X-linked"""				Standard	NM_138960		Approved		uc004efe.3	Q8IUE1	OTTHUMG00000021954	ENST00000561129.2:c.561C>A	X.37:g.89177645C>A							p.A187A	NM_138960	NP_620410	Q8IUE1	TF2LX_HUMAN			2	610	+			187					Q5JRM9|Q8TD48	Silent	SNP	ENST00000561129.2	37	c.561C>A	CCDS14459.1																																																																																				0.567	TGIF2LX-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417911.2	NM_138960		4	21	1	0	0.000602214	0.000602	0.000660368	4	21				
PABPC5	140886	broad.mit.edu	37	X	90691663	90691663	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chrX:90691663G>T	ENST00000312600.3	+	2	1301	c.1087G>T	c.(1087-1089)Ggc>Tgc	p.G363C	PABPC5_ENST00000373105.1_Missense_Mutation_p.G199C|PABPC5-AS1_ENST00000456187.1_RNA	NM_080832.2	NP_543022.1	Q96DU9	PABP5_HUMAN	poly(A) binding protein, cytoplasmic 5	363	RRM 4. {ECO:0000255|PROSITE- ProRule:PRU00176}.					mitochondrion (GO:0005739)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.G363C(1)		central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1)	42						TGAGATGAATGGCCGCATAGT	0.532																																							uc004efg.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)|pancreas(1)	3						c.(1087-1089)GGC>TGC		poly(A) binding protein, cytoplasmic 5							34.0	33.0	34.0					X																	90691663		2203	4299	6502	SO:0001583	missense	140886					cytoplasm	nucleotide binding|RNA binding	g.chrX:90691663G>T	AJ278963	CCDS14460.1	Xq21.3	2013-02-12	2001-11-28		ENSG00000174740	ENSG00000174740		"""RNA binding motif (RRM) containing"""	13629	protein-coding gene	gene with protein product		300407	"""poly(A)-binding protein, cytoplasmic 5"""			11374897	Standard	NM_080832		Approved	PABP5	uc004efg.3	Q96DU9	OTTHUMG00000021959	ENST00000312600.3:c.1087G>T	X.37:g.90691663G>T	ENSP00000308012:p.Gly363Cys					PABPC5_uc004eff.1_Missense_Mutation_p.G199C	p.G363C	NM_080832	NP_543022	Q96DU9	PABP5_HUMAN			2	1527	+			363			RRM 4.		A8K240|Q5JQF4|Q6P529|Q9UFE5	Missense_Mutation	SNP	ENST00000312600.3	37	c.1087G>T	CCDS14460.1	.	.	.	.	.	.	.	.	.	.	G	13.51	2.259219	0.39995	.	.	ENSG00000174740	ENST00000373105;ENST00000312600;ENST00000402906	T;T	0.26660	1.72;1.72	4.14	4.14	0.48551	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.64594	0.2612	H	0.97240	3.965	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.77587	-0.2532	10	0.87932	D	0	.	13.362	0.60661	0.0:0.0:1.0:0.0	.	363	Q96DU9	PABP5_HUMAN	C	199;363;331	ENSP00000362197:G199C;ENSP00000308012:G363C	ENSP00000308012:G363C	G	+	1	0	PABPC5	90578319	1.000000	0.71417	1.000000	0.80357	0.266000	0.26442	9.240000	0.95396	2.318000	0.78349	0.529000	0.55759	GGC		0.532	PABPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057429.1	NM_080832		16	67	1	0	1.15088e-07	0.004007	1.44674e-07	16	67				
PCDH11X	27328	broad.mit.edu	37	X	91873299	91873299	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chrX:91873299C>A	ENST00000373094.1	+	7	4249	c.3404C>A	c.(3403-3405)gCc>gAc	p.A1135D	PCDH11X_ENST00000373097.1_Missense_Mutation_p.A1125D|PCDH11X_ENST00000406881.1_Missense_Mutation_p.A1127D|PCDH11X_ENST00000298274.8_Missense_Mutation_p.A1098D|PCDH11X_ENST00000361655.2_Missense_Mutation_p.A1117D|PCDH11X_ENST00000504220.2_3'UTR|PCDH11X_ENST00000373088.1_Missense_Mutation_p.A1098D	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	1135					homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A1135D(1)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						GTGGAAGAGGCCTCTGACAAC	0.433																																					NSCLC(38;925 1092 2571 38200 45895)	NSCLC(38;925 1092 2571 38200 45895)	uc004efk.1		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(2)	2						c.(3403-3405)GCC>GAC		protocadherin 11 X-linked isoform c							37.0	32.0	34.0					X																	91873299		2203	4298	6501	SO:0001583	missense	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91873299C>A	AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"""Cadherins / Protocadherins : Non-clustered"""	8656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 119"""	300246	"""protocadherin 11"""	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.3404C>A	X.37:g.91873299C>A	ENSP00000362186:p.Ala1135Asp					PCDH11X_uc004efl.1_Missense_Mutation_p.A1125D|PCDH11X_uc004efo.1_Missense_Mutation_p.A1098D|PCDH11X_uc010nmv.1_3'UTR|PCDH11X_uc004efm.1_Missense_Mutation_p.A1127D|PCDH11X_uc004efn.1_Missense_Mutation_p.A1117D	p.A1135D	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN			7	4249	+			1135			Cytoplasmic (Potential).		A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	SNP	ENST00000373094.1	37	c.3404C>A	CCDS14461.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.065329	0.76187	.	.	ENSG00000102290	ENST00000373094;ENST00000373097;ENST00000373088;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T	0.55930	0.5;0.5;0.49;0.5;0.52;0.53	4.63	4.63	0.57726	.	0.000000	0.38436	U	0.001685	T	0.65344	0.2682	L	0.52573	1.65	0.42193	D	0.99173	D;D;D;D;D	0.64830	0.994;0.994;0.994;0.994;0.994	D;D;D;D;P	0.63703	0.917;0.917;0.917;0.917;0.827	T	0.69639	-0.5091	10	0.66056	D	0.02	.	15.6224	0.76816	0.0:1.0:0.0:0.0	.	1098;1117;1127;1125;1135	Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7	.;.;.;.;PC11X_HUMAN	D	1135;1125;1098;1117;1127;1135;1098	ENSP00000362186:A1135D;ENSP00000362189:A1125D;ENSP00000362180:A1098D;ENSP00000355105:A1117D;ENSP00000384758:A1127D;ENSP00000298274:A1098D	ENSP00000298274:A1098D	A	+	2	0	PCDH11X	91759955	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	1.536000	0.36072	1.873000	0.54277	0.466000	0.42574	GCC		0.433	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		31	11	1	0	7.01153e-11	0.007291	9.98021e-11	31	11				
TNMD	64102	broad.mit.edu	37	X	99854595	99854595	+	Missense_Mutation	SNP	G	G	A	rs377645140		TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chrX:99854595G>A	ENST00000373031.4	+	7	1052	c.835G>A	c.(835-837)Gtc>Atc	p.V279I		NM_022144.2	NP_071427.2	Q9H2S6	TNMD_HUMAN	tenomodulin	279					cellular response to BMP stimulus (GO:0071773)|endothelial cell morphogenesis (GO:0001886)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell proliferation (GO:0001937)|tendon cell differentiation (GO:0035990)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)		p.V279I(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(7)|skin(1)	16						TTGCCGCCGCGTCTGTGAACC	0.488																																							uc004efy.3		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(835-837)GTC>ATC		tenomodulin		G	ILE/VAL	1,3834		0,1,1631,571	98.0	59.0	72.0		835	5.0	1.0	X		72	0,6728		0,0,2428,1872	no	missense	TNMD	NM_022144.2	29	0,1,4059,2443	AA,AG,GG,G		0.0,0.0261,0.0095	possibly-damaging	279/318	99854595	1,10562	2203	4300	6503	SO:0001583	missense	64102					integral to membrane		g.chrX:99854595G>A	AF191770	CCDS14469.1	Xq21.33-q23	2012-10-10			ENSG00000000005	ENSG00000000005		"""BRICHOS domain containing"""	17757	protein-coding gene	gene with protein product	"""BRICHOS domain containing 4"""	300459					Standard	NM_022144		Approved	myodulin, ChM1L, tendin, TEM, BRICD4	uc004efy.4	Q9H2S6	OTTHUMG00000022001	ENST00000373031.4:c.835G>A	X.37:g.99854595G>A	ENSP00000362122:p.Val279Ile					TNMD_uc004efz.2_3'UTR	p.V279I	NM_022144	NP_071427	Q9H2S6	TNMD_HUMAN			7	1061	+			279			Extracellular (Potential).		Q9HBX0|Q9UJG0	Missense_Mutation	SNP	ENST00000373031.4	37	c.835G>A	CCDS14469.1	.	.	.	.	.	.	.	.	.	.	G	10.25	1.298523	0.23650	2.61E-4	0.0	ENSG00000000005	ENST00000373031	T	0.29142	1.58	5.87	5.0	0.66597	.	0.141115	0.49305	D	0.000153	T	0.14657	0.0354	N	0.08118	0	0.35484	D	0.798396	B	0.15719	0.014	B	0.10450	0.005	T	0.14671	-1.0464	10	0.02654	T	1	-30.225	13.9669	0.64213	0.0744:0.0:0.9256:0.0	.	279	Q9H2S6	TNMD_HUMAN	I	279	ENSP00000362122:V279I	ENSP00000362122:V279I	V	+	1	0	TNMD	99741251	0.995000	0.38212	0.991000	0.47740	0.999000	0.98932	2.373000	0.44266	1.221000	0.43506	0.594000	0.82650	GTC		0.488	TNMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057481.1	NM_022144		4	31	0	0	0	0.009096	0	4	31				
ARMCX2	9823	broad.mit.edu	37	X	100912509	100912509	+	Nonsense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chrX:100912509G>T	ENST00000328766.5	-	5	519	c.66C>A	c.(64-66)taC>taA	p.Y22*	ARMCX2_ENST00000467416.1_5'UTR|ARMCX2_ENST00000330154.2_Nonsense_Mutation_p.Y22*|ARMCX2_ENST00000356824.4_Nonsense_Mutation_p.Y22*	NM_014782.5	NP_055597.1	Q7L311	ARMX2_HUMAN	armadillo repeat containing, X-linked 2	22						integral component of membrane (GO:0016021)		p.Y22*(1)		NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1)	29						TGTAGACACAGTACCAGGCAC	0.597																																							uc004eid.2		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(6)	6						c.(64-66)TAC>TAA		ALEX2 protein							72.0	73.0	72.0					X																	100912509		2203	4300	6503	SO:0001587	stop_gained	9823					integral to membrane	binding	g.chrX:100912509G>T	AB011084	CCDS14490.1	Xq21.33-q22.2	2014-03-21			ENSG00000184867	ENSG00000184867		"""Armadillo repeat containing"""	16869	protein-coding gene	gene with protein product		300363				9628581, 11162520, 16221301, 22569362	Standard	XM_005278109		Approved	ALEX2, KIAA0512, GASP9	uc004eif.3	Q7L311	OTTHUMG00000022038	ENST00000328766.5:c.66C>A	X.37:g.100912509G>T	ENSP00000331662:p.Tyr22*					ARMCX2_uc004eie.3_Nonsense_Mutation_p.Y22*|ARMCX2_uc004eif.3_Nonsense_Mutation_p.Y22*|ARMCX2_uc004eig.3_Nonsense_Mutation_p.Y22*|ARMCX2_uc010nnt.2_Nonsense_Mutation_p.Y22*	p.Y22*	NM_177949	NP_808818	Q7L311	ARMX2_HUMAN			3	421	-			22			Helical; (Potential).		O60267|Q5H9D9	Nonsense_Mutation	SNP	ENST00000328766.5	37	c.66C>A	CCDS14490.1	.	.	.	.	.	.	.	.	.	.	G	36	5.681094	0.96774	.	.	ENSG00000184867	ENST00000328766;ENST00000330154;ENST00000356824;ENST00000413506;ENST00000433318;ENST00000440675;ENST00000458024;ENST00000431597	.	.	.	3.9	3.03	0.35002	.	0.300277	0.32753	N	0.005682	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.7088	6.3569	0.21406	0.1363:0.0:0.8637:0.0	.	.	.	.	X	22	.	ENSP00000331662:Y22X	Y	-	3	2	ARMCX2	100799165	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	0.681000	0.25320	1.000000	0.39049	0.544000	0.68410	TAC		0.597	ARMCX2-011	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057586.1	NM_014782		16	62	1	0	0.000422831	0.004007	0.000465661	16	62				
IL1RAPL2	26280	broad.mit.edu	37	X	105011394	105011394	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chrX:105011394G>A	ENST00000372582.1	+	11	2557	c.1801G>A	c.(1801-1803)Gct>Act	p.A601T	IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.A601T	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	601					central nervous system development (GO:0007417)|cytokine-mediated signaling pathway (GO:0019221)	integral component of membrane (GO:0016021)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type II, blocking receptor activity (GO:0004910)	p.A601T(1)		breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						GTCATCTCAGGCTGATCTCCC	0.488																																							uc004elz.1		NA																	1	Substitution - Missense(1)		lung(1)	breast(2)|ovary(1)	3						c.(1801-1803)GCT>ACT		interleukin 1 receptor accessory protein-like 2							103.0	89.0	94.0					X																	105011394		2203	4300	6503	SO:0001583	missense	26280				central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity	g.chrX:105011394G>A	AF181285	CCDS14517.1	Xq22	2013-01-11			ENSG00000189108	ENSG00000189108		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5997	protein-coding gene	gene with protein product		300277				10757639	Standard	NM_017416		Approved	IL-1R9, TIGIRR-1, IL1RAPL-2, IL1R9	uc004elz.1	Q9NP60	OTTHUMG00000022141	ENST00000372582.1:c.1801G>A	X.37:g.105011394G>A	ENSP00000361663:p.Ala601Thr						p.A601T	NM_017416	NP_059112	Q9NP60	IRPL2_HUMAN			11	2557	+			601			Cytoplasmic (Potential).		Q2M3U3|Q9NZN0	Missense_Mutation	SNP	ENST00000372582.1	37	c.1801G>A	CCDS14517.1	.	.	.	.	.	.	.	.	.	.	G	10.60	1.394500	0.25205	.	.	ENSG00000189108	ENST00000372582;ENST00000344799;ENST00000538500	T;T;T	0.04502	3.91;3.91;3.61	5.89	4.98	0.66077	.	0.537730	0.18498	N	0.139452	T	0.05640	0.0148	L	0.44542	1.39	0.39171	D	0.962585	B	0.20887	0.049	B	0.22386	0.039	T	0.31223	-0.9951	10	0.33940	T	0.23	.	9.7881	0.40688	0.0:0.1472:0.6976:0.1552	.	601	Q9NP60	IRPL2_HUMAN	T	601;601;206	ENSP00000361663:A601T;ENSP00000344976:A601T;ENSP00000445576:A206T	ENSP00000344976:A601T	A	+	1	0	IL1RAPL2	104898050	1.000000	0.71417	1.000000	0.80357	0.480000	0.33159	3.758000	0.55220	2.492000	0.84095	0.597000	0.82753	GCT		0.488	IL1RAPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057785.1	NM_017416		14	91	0	0	0	0.00245	0	14	91				
PSMD10	5716	broad.mit.edu	37	X	107331000	107331000	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chrX:107331000G>T	ENST00000217958.3	-	4	540	c.443C>A	c.(442-444)gCc>gAc	p.A148D	PSMD10_ENST00000361815.5_Missense_Mutation_p.A148D|PSMD10_ENST00000372295.1_Missense_Mutation_p.A107D|PSMD10_ENST00000340200.5_Missense_Mutation_p.A115D|PSMD10_ENST00000372296.1_Missense_Mutation_p.A107D	NM_002814.3|NM_170750.2	NP_002805.1|NP_736606.1	O75832	PSD10_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 10	148	Interaction with RELA.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|cytoplasmic sequestering of NF-kappaB (GO:0007253)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of cell growth (GO:0030307)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome regulatory particle assembly (GO:0070682)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	transcription factor binding (GO:0008134)	p.A148D(1)		endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9						GTTACCCTTGGCTGCTGCCCG	0.473																																							uc004enp.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(442-444)GCC>GAC		proteasome 26S non-ATPase subunit 10 isoform 1							194.0	165.0	175.0					X																	107331000		2203	4300	6503	SO:0001583	missense	5716				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cytoplasmic sequestering of NF-kappaB|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of MAPKKK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of release of cytochrome c from mitochondria|negative regulation of transcription from RNA polymerase II promoter|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of cell growth|positive regulation of cyclin-dependent protein kinase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|proteasome regulatory particle assembly|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus|proteasome regulatory particle	transcription factor binding	g.chrX:107331000G>T	AB009619	CCDS14536.1, CCDS14537.1	Xq22.3	2013-01-10			ENSG00000101843	ENSG00000101843		"""Proteasome (prosome, macropain) subunits"", ""Ankyrin repeat domain containing"""	9555	protein-coding gene	gene with protein product	"""gankyrin"""	300880				9714768	Standard	NM_002814		Approved	p28	uc004enp.2	O75832	OTTHUMG00000022177	ENST00000217958.3:c.443C>A	X.37:g.107331000G>T	ENSP00000217958:p.Ala148Asp					PSMD10_uc004enq.1_Missense_Mutation_p.A148D|PSMD10_uc010nph.1_Missense_Mutation_p.A99D	p.A148D	NM_002814	NP_002805	O75832	PSD10_HUMAN			4	541	-			148			ANK 5.|Interaction with RELA.		Q5U0B2|Q8IZK9	Missense_Mutation	SNP	ENST00000217958.3	37	c.443C>A	CCDS14536.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.808031	0.90707	.	.	ENSG00000101843	ENST00000217958;ENST00000372296;ENST00000372295;ENST00000361815;ENST00000340200	T;T;T;T;T	0.68479	-0.12;-0.33;-0.12;-0.32;-0.12	5.21	5.21	0.72293	Ankyrin repeat-containing domain (3);	0.170757	0.51477	D	0.000100	T	0.66742	0.2820	N	0.25286	0.73	0.80722	D	1	D;P;P	0.58268	0.982;0.561;0.945	P;B;P	0.57620	0.824;0.198;0.631	T	0.63166	-0.6698	10	0.19590	T	0.45	-2.9062	17.9025	0.88909	0.0:0.0:1.0:0.0	.	107;148;148	B1AJY5;Q8IZK9;O75832	.;.;PSD10_HUMAN	D	148;107;107;148;115	ENSP00000217958:A148D;ENSP00000361370:A107D;ENSP00000361369:A107D;ENSP00000354906:A148D;ENSP00000345963:A115D	ENSP00000217958:A148D	A	-	2	0	PSMD10	107217656	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.159000	0.67721	0.513000	0.50165	GCC		0.473	PSMD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057868.1	NM_170750		39	119	1	0	4.67007e-22	0.00874	8.24319e-22	39	119				
COL4A6	1288	broad.mit.edu	37	X	107402931	107402931	+	Missense_Mutation	SNP	A	A	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chrX:107402931A>T	ENST00000372216.4	-	44	4676	c.4576T>A	c.(4576-4578)Tac>Aac	p.Y1526N	COL4A6_ENST00000545689.1_Missense_Mutation_p.Y1501N|COL4A6_ENST00000538570.1_Missense_Mutation_p.Y1468N|COL4A6_ENST00000394872.2_Missense_Mutation_p.Y1526N|COL4A6_ENST00000418180.1_Missense_Mutation_p.Y60N|COL4A6_ENST00000334504.7_Missense_Mutation_p.Y1525N	NM_001847.2	NP_001838.2	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	1526	Collagen IV NC1. {ECO:0000255|PROSITE- ProRule:PRU00736}.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)	p.Y1525N(1)		breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						ATGTTGCAGTAGATGAAGGGC	0.582									Alport syndrome with Diffuse Leiomyomatosis																												Melanoma(87;1895 1945 2589 7165)	Melanoma(87;1895 1945 2589 7165)	uc004enw.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(6)|urinary_tract(1)|large_intestine(1)	8						c.(4576-4578)TAC>AAC		type IV alpha 6 collagen isoform A precursor							120.0	115.0	117.0					X																	107402931		2203	4300	6503	SO:0001583	missense	1288	Alport_syndrome_with_Diffuse_Leiomyomatosis	Familial Cancer Database		cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding	g.chrX:107402931A>T	U04845	CCDS14541.1, CCDS14542.1, CCDS76008.1, CCDS76009.1, CCDS76010.1	Xq22	2014-09-17			ENSG00000197565	ENSG00000197565		"""Collagens"""	2208	protein-coding gene	gene with protein product		303631				8356449	Standard	NM_033641		Approved		uc004env.4	Q14031	OTTHUMG00000022179	ENST00000372216.4:c.4576T>A	X.37:g.107402931A>T	ENSP00000361290:p.Tyr1526Asn					COL4A6_uc004env.3_Missense_Mutation_p.Y1525N|COL4A6_uc011msn.1_Missense_Mutation_p.Y1501N|COL4A6_uc010npk.2_Missense_Mutation_p.Y1468N|COL4A6_uc011msm.1_Missense_Mutation_p.Y60N|COL4A6_uc010npj.2_Missense_Mutation_p.Y5N	p.Y1526N	NM_001847	NP_001838	Q14031	CO4A6_HUMAN			44	4679	-			1526			Collagen IV NC1.		Q12823|Q14053|Q5JYH6|Q5JYH8|Q9NQM5|Q9NTX3|Q9UJ76|Q9UMG6|Q9Y4L4	Missense_Mutation	SNP	ENST00000372216.4	37	c.4576T>A	CCDS14541.1	.	.	.	.	.	.	.	.	.	.	A	17.30	3.353708	0.61293	.	.	ENSG00000197565	ENST00000418180;ENST00000372216;ENST00000334504;ENST00000394872;ENST00000541389;ENST00000545689;ENST00000538570	D;D;D;D;D;D	0.94046	-3.34;-3.34;-3.34;-3.34;-3.34;-3.34	4.82	4.82	0.62117	C-type lectin fold (1);	0.000000	0.35407	N	0.003230	D	0.96043	0.8711	M	0.73217	2.22	0.53688	D	0.999978	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	D	0.96530	0.9392	10	0.87932	D	0	.	14.0857	0.64954	1.0:0.0:0.0:0.0	.	1501;60;1468;1526;1525	F5H851;B4DZ39;F5H3Q5;Q14031;Q14031-2	.;.;.;CO4A6_HUMAN;.	N	60;1526;1525;1526;1513;1501;1468	ENSP00000406002:Y60N;ENSP00000361290:Y1526N;ENSP00000334733:Y1525N;ENSP00000378340:Y1526N;ENSP00000443707:Y1501N;ENSP00000445236:Y1468N	ENSP00000334733:Y1525N	Y	-	1	0	COL4A6	107289587	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.243000	0.95416	1.861000	0.53984	0.430000	0.28490	TAC		0.582	COL4A6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057875.2			4	216	0	0	0	0.000602	0	4	216				
COL4A6	1288	broad.mit.edu	37	X	107417735	107417735	+	Silent	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chrX:107417735G>T	ENST00000372216.4	-	31	3176	c.3076C>A	c.(3076-3078)Cgg>Agg	p.R1026R	COL4A6_ENST00000545689.1_Silent_p.R1025R|COL4A6_ENST00000538570.1_Silent_p.R1025R|COL4A6_ENST00000394872.2_Silent_p.R1026R|COL4A6_ENST00000334504.7_Silent_p.R1025R	NM_001847.2	NP_001838.2	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	1026	Triple-helical region.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)	p.R1025R(1)		breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						GGTAAGCCCCGGATTCCCATG	0.557									Alport syndrome with Diffuse Leiomyomatosis																												Melanoma(87;1895 1945 2589 7165)	Melanoma(87;1895 1945 2589 7165)	uc004enw.3		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(6)|urinary_tract(1)|large_intestine(1)	8						c.(3076-3078)CGG>AGG		type IV alpha 6 collagen isoform A precursor							49.0	50.0	50.0					X																	107417735		2203	4300	6503	SO:0001819	synonymous_variant	1288	Alport_syndrome_with_Diffuse_Leiomyomatosis	Familial Cancer Database		cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding	g.chrX:107417735G>T	U04845	CCDS14541.1, CCDS14542.1, CCDS76008.1, CCDS76009.1, CCDS76010.1	Xq22	2014-09-17			ENSG00000197565	ENSG00000197565		"""Collagens"""	2208	protein-coding gene	gene with protein product		303631				8356449	Standard	NM_033641		Approved		uc004env.4	Q14031	OTTHUMG00000022179	ENST00000372216.4:c.3076C>A	X.37:g.107417735G>T						COL4A6_uc004env.3_Silent_p.R1025R|COL4A6_uc011msn.1_Silent_p.R1025R|COL4A6_uc010npk.2_Silent_p.R1025R	p.R1026R	NM_001847	NP_001838	Q14031	CO4A6_HUMAN			31	3179	-			1026			Triple-helical region.		Q12823|Q14053|Q5JYH6|Q5JYH8|Q9NQM5|Q9NTX3|Q9UJ76|Q9UMG6|Q9Y4L4	Silent	SNP	ENST00000372216.4	37	c.3076C>A	CCDS14541.1																																																																																				0.557	COL4A6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057875.2			13	69	1	0	2.27111e-07	0.001368	2.83058e-07	13	69				
GUCY2F	2986	broad.mit.edu	37	X	108625421	108625421	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chrX:108625421G>T	ENST00000218006.2	-	17	3367	c.3076C>A	c.(3076-3078)Ctc>Atc	p.L1026I		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	1026					intracellular signal transduction (GO:0035556)|phototransduction, visible light (GO:0007603)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|nuclear outer membrane (GO:0005640)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)	p.L1026I(1)		breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						ACAGTGCTGAGACTGACATGA	0.388																																							uc004eod.3		NA																	1	Substitution - Missense(1)		lung(1)	lung(4)|breast(3)|central_nervous_system(1)	8						c.(3076-3078)CTC>ATC		guanylate cyclase 2F precursor							151.0	144.0	146.0					X																	108625421		2203	4300	6503	SO:0001583	missense	2986				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity	g.chrX:108625421G>T	L37378	CCDS14545.1	Xq22	2008-08-01			ENSG00000101890	ENSG00000101890			4691	protein-coding gene	gene with protein product	"""guanylate cyclase 2D-like, membrane (retina-specific)"""	300041				8838319, 7777544	Standard	NM_001522		Approved	GUC2DL, GC-F, RetGC-2, ROS-GC2, CYGF	uc004eod.4	P51841	OTTHUMG00000022184	ENST00000218006.2:c.3076C>A	X.37:g.108625421G>T	ENSP00000218006:p.Leu1026Ile					GUCY2F_uc011msq.1_RNA	p.L1026I	NM_001522	NP_001513	P51841	GUC2F_HUMAN			17	3352	-			1026			Cytoplasmic (Potential).		Q9UJF1	Missense_Mutation	SNP	ENST00000218006.2	37	c.3076C>A	CCDS14545.1	.	.	.	.	.	.	.	.	.	.	G	11.74	1.729511	0.30684	.	.	ENSG00000101890	ENST00000218006	D	0.84442	-1.85	4.11	4.11	0.48088	Adenylyl cyclase class-3/4/guanylyl cyclase (4);	0.311460	0.34986	N	0.003540	T	0.77850	0.4192	L	0.34521	1.04	0.20764	N	0.999858	B	0.02656	0.0	B	0.13407	0.009	T	0.67715	-0.5599	10	0.41790	T	0.15	.	13.2483	0.60036	0.0:0.0:1.0:0.0	.	1026	P51841	GUC2F_HUMAN	I	1026	ENSP00000218006:L1026I	ENSP00000218006:L1026I	L	-	1	0	GUCY2F	108512077	0.763000	0.28462	1.000000	0.80357	0.992000	0.81027	0.993000	0.29680	2.290000	0.77057	0.600000	0.82982	CTC		0.388	GUCY2F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057884.1	NM_001522		36	188	1	0	1.90571e-15	0.004289	3.0964e-15	36	188				
GUCY2F	2986	broad.mit.edu	37	X	108684682	108684682	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chrX:108684682C>A	ENST00000218006.2	-	7	1890	c.1599G>T	c.(1597-1599)caG>caT	p.Q533H		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	533	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|phototransduction, visible light (GO:0007603)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|nuclear outer membrane (GO:0005640)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)	p.Q533H(1)		breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						CTGAGGTAATCTGGAAGCTTA	0.428																																							uc004eod.3		NA																	1	Substitution - Missense(1)		lung(1)	lung(4)|breast(3)|central_nervous_system(1)	8						c.(1597-1599)CAG>CAT		guanylate cyclase 2F precursor							187.0	183.0	184.0					X																	108684682		2203	4300	6503	SO:0001583	missense	2986				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity	g.chrX:108684682C>A	L37378	CCDS14545.1	Xq22	2008-08-01			ENSG00000101890	ENSG00000101890			4691	protein-coding gene	gene with protein product	"""guanylate cyclase 2D-like, membrane (retina-specific)"""	300041				8838319, 7777544	Standard	NM_001522		Approved	GUC2DL, GC-F, RetGC-2, ROS-GC2, CYGF	uc004eod.4	P51841	OTTHUMG00000022184	ENST00000218006.2:c.1599G>T	X.37:g.108684682C>A	ENSP00000218006:p.Gln533His					GUCY2F_uc011msq.1_RNA	p.Q533H	NM_001522	NP_001513	P51841	GUC2F_HUMAN			7	1875	-			533			Protein kinase.|Cytoplasmic (Potential).		Q9UJF1	Missense_Mutation	SNP	ENST00000218006.2	37	c.1599G>T	CCDS14545.1	.	.	.	.	.	.	.	.	.	.	C	11.41	1.629606	0.28978	.	.	ENSG00000101890	ENST00000218006	T	0.79247	-1.25	3.83	2.97	0.34412	Protein kinase, catalytic domain (1);	0.481200	0.22276	N	0.062191	T	0.56031	0.1958	N	0.08118	0	0.28024	N	0.934391	B	0.06786	0.001	B	0.04013	0.001	T	0.50162	-0.8860	10	0.40728	T	0.16	.	8.6311	0.33919	0.0:0.8809:0.0:0.1191	.	533	P51841	GUC2F_HUMAN	H	533	ENSP00000218006:Q533H	ENSP00000218006:Q533H	Q	-	3	2	GUCY2F	108571338	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.707000	0.37888	0.976000	0.38417	0.600000	0.82982	CAG		0.428	GUCY2F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057884.1	NM_001522		95	235	1	0	7.70235e-37	0.00361	1.46045e-36	95	235				
KCNE1L	23630	broad.mit.edu	37	X	108867952	108867952	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chrX:108867952C>T	ENST00000372101.2	-	1	441	c.298G>A	c.(298-300)Gag>Aag	p.E100K		NM_012282.2	NP_036414.1	Q9UJ90	KCE1L_HUMAN	KCNE1-like	100					atrial cardiac muscle cell action potential (GO:0086014)|cardiac muscle contraction (GO:0060048)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of potassium ion transmembrane transport (GO:1901380)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion transmembrane transport (GO:0071805)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cation channel activity (GO:2001257)|regulation of heart contraction (GO:0008016)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|ventricular cardiac muscle cell action potential (GO:0086005)	voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)	p.E100K(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	6						CATTCGTGCTCGGCGCAAGCC	0.731																																							uc004eoh.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(298-300)GAG>AAG		potassium voltage-gated channel, Isk-related							10.0	10.0	10.0					X																	108867952		2184	4271	6455	SO:0001583	missense	23630				regulation of heart contraction	voltage-gated potassium channel complex		g.chrX:108867952C>T	AJ012743	CCDS14547.1	Xq22.3	2008-02-05	2004-06-09		ENSG00000176076	ENSG00000176076		"""Potassium channels"""	6241	protein-coding gene	gene with protein product		300328	"""potassium voltage-gated channel, Isk-related family, member 1-like"""			10493825	Standard	NM_012282		Approved		uc004eoh.3	Q9UJ90	OTTHUMG00000022189	ENST00000372101.2:c.298G>A	X.37:g.108867952C>T	ENSP00000361173:p.Glu100Lys						p.E100K	NM_012282	NP_036414	Q9UJ90	KCE1L_HUMAN			1	442	-			100			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000372101.2	37	c.298G>A	CCDS14547.1	.	.	.	.	.	.	.	.	.	.	c	11.49	1.655433	0.29425	.	.	ENSG00000176076	ENST00000372101	T	0.72282	-0.64	4.75	2.92	0.33932	.	0.196730	0.33144	N	0.005240	T	0.52224	0.1721	L	0.34521	1.04	0.26038	N	0.981649	B	0.26002	0.139	B	0.21360	0.034	T	0.30357	-0.9981	10	0.10636	T	0.68	-7.3657	9.1191	0.36775	0.0:0.7652:0.148:0.0868	.	100	Q9UJ90	KCE1L_HUMAN	K	100	ENSP00000361173:E100K	ENSP00000361173:E100K	E	-	1	0	KCNE1L	108754608	0.006000	0.16342	0.683000	0.30040	0.068000	0.16541	-0.107000	0.10873	1.065000	0.40693	0.597000	0.82753	GAG		0.731	KCNE1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057892.1	NM_012282		3	11	0	0	0	0.004672	0	3	11				
GLUD2	2747	broad.mit.edu	37	X	120181573	120181573	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chrX:120181573C>A	ENST00000328078.1	+	1	112	c.35C>A	c.(34-36)tCc>tAc	p.S12Y		NM_012084.3	NP_036216.2	P49448	DHE4_HUMAN	glutamate dehydrogenase 2	12					glutamate biosynthetic process (GO:0006537)|glutamate catabolic process (GO:0006538)|glutamate metabolic process (GO:0006536)|oxidation-reduction process (GO:0055114)	mitochondrion (GO:0005739)	ADP binding (GO:0043531)|glutamate dehydrogenase (NAD+) activity (GO:0004352)|glutamate dehydrogenase [NAD(P)+] activity (GO:0004353)|GTP binding (GO:0005525)|leucine binding (GO:0070728)	p.S12Y(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1)	38						CTGCTGCCGTCCCGGGCCGGG	0.766																																							uc004eto.2		NA																	1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(34-36)TCC>TAC		glutamate dehydrogenase 2 precursor	L-Glutamic Acid(DB00142)|NADH(DB00157)						19.0	22.0	21.0					X																	120181573		1594	3083	4677	SO:0001583	missense	2747				glutamate biosynthetic process|glutamate catabolic process	mitochondrial matrix	ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding	g.chrX:120181573C>A	U08997	CCDS14603.1	Xq24-q25	2008-02-05	2003-02-24	2003-02-28	ENSG00000182890	ENSG00000182890			4336	protein-coding gene	gene with protein product		300144	"""glutamate dehydrogenase pseudogene 1"""	GLUDP1		8207021, 9109504	Standard	NM_012084		Approved		uc004eto.3	P49448	OTTHUMG00000022320	ENST00000328078.1:c.35C>A	X.37:g.120181573C>A	ENSP00000327589:p.Ser12Tyr						p.S12Y	NM_012084	NP_036216	P49448	DHE4_HUMAN			1	112	+			12					B2R8G0|Q9UDQ4	Missense_Mutation	SNP	ENST00000328078.1	37	c.35C>A	CCDS14603.1	.	.	.	.	.	.	.	.	.	.	C	11.31	1.599967	0.28534	.	.	ENSG00000182890	ENST00000328078	D	0.96802	-4.13	1.14	-1.22	0.09494	.	.	.	.	.	D	0.88377	0.6420	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.78329	-0.2246	9	0.72032	D	0.01	.	4.892	0.13731	0.2262:0.5527:0.2211:0.0	.	12	P49448	DHE4_HUMAN	Y	12	ENSP00000327589:S12Y	ENSP00000327589:S12Y	S	+	2	0	GLUD2	120009254	0.024000	0.19004	0.004000	0.12327	0.005000	0.04900	0.248000	0.18198	-0.580000	0.05944	-1.654000	0.00755	TCC		0.766	GLUD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058133.1	NM_012084		9	21	1	0	5.50884e-06	0.001368	6.53894e-06	9	21				
GRIA3	2892	broad.mit.edu	37	X	122318470	122318470	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chrX:122318470G>A	ENST00000371251.1	+	1	135	c.83G>A	c.(82-84)gGa>gAa	p.G28E	GRIA3_ENST00000371264.3_Missense_Mutation_p.G28E|GRIA3_ENST00000371256.5_Missense_Mutation_p.G28E|GRIA3_ENST00000541091.1_5'Flank|GRIA3_ENST00000542149.1_Missense_Mutation_p.G28E|GRIA3_ENST00000264357.5_Missense_Mutation_p.G28E|GRIA3_ENST00000479118.1_3'UTR|GRIA3_ENST00000371266.1_Missense_Mutation_p.G28E			P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	28					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)	p.G28E(3)		breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					Lithium(DB01356)	CATTCTCACGGAGGATTCCCC	0.587																																							uc004etq.3		NA																	3	Substitution - Missense(3)		lung(3)	ovary(3)|central_nervous_system(1)|pancreas(1)	5						c.(82-84)GGA>GAA		glutamate receptor, ionotrophic, AMPA 3 isoform	L-Glutamic Acid(DB00142)						93.0	92.0	92.0					X																	122318470		2203	4300	6503	SO:0001583	missense	2892				glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity	g.chrX:122318470G>A	U10301	CCDS14604.1, CCDS14605.1, CCDS76017.1	Xq25	2012-08-29	2012-02-03		ENSG00000125675	ENSG00000125675		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4573	protein-coding gene	gene with protein product		305915	"""glutamate receptor, ionotrophic, AMPA 3"""	GLUR3		1319477, 10644433	Standard	NM_007325		Approved	GluA3, GLURC, MRX94	uc004etr.4	P42263	OTTHUMG00000022685	ENST00000371251.1:c.83G>A	X.37:g.122318470G>A	ENSP00000360297:p.Gly28Glu					GRIA3_uc004etr.3_Missense_Mutation_p.G28E|GRIA3_uc004ets.3_RNA|GRIA3_uc011muf.1_5'Flank|GRIA3_uc010nqs.1_Missense_Mutation_p.G28E	p.G28E	NM_007325	NP_015564	P42263	GRIA3_HUMAN			2	376	+			28					D3DTF1|Q4VXD5|Q4VXD6|Q9HDA0|Q9HDA1|Q9HDA2|Q9P0H1	Missense_Mutation	SNP	ENST00000371251.1	37	c.83G>A	CCDS14604.1	.	.	.	.	.	.	.	.	.	.	G	15.02	2.708330	0.48517	.	.	ENSG00000125675	ENST00000371266;ENST00000264357;ENST00000371264;ENST00000542149;ENST00000335161;ENST00000371256;ENST00000371251	T;T;T;T	0.14391	2.67;2.51;2.67;2.67	5.83	5.83	0.93111	.	0.189846	0.45867	D	0.000324	T	0.28599	0.0708	L	0.39898	1.24	0.80722	D	1	D;P;P	0.89917	1.0;0.455;0.59	D;B;B	0.77557	0.99;0.117;0.232	T	0.00662	-1.1621	10	0.56958	D	0.05	.	13.9133	0.63881	0.0:0.1492:0.8508:0.0	.	28;28;28	Q4TT43;P42263;P42263-2	.;GRIA3_HUMAN;.	E	28	ENSP00000264357:G28E;ENSP00000446146:G28E;ENSP00000360302:G28E;ENSP00000360297:G28E	ENSP00000264357:G28E	G	+	2	0	GRIA3	122146151	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.734000	0.47368	2.453000	0.82957	0.600000	0.82982	GGA		0.587	GRIA3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058854.1	NM_000828		19	88	0	0	0	0.008871	0	19	88				
STAG2	10735	broad.mit.edu	37	X	123220443	123220443	+	Nonsense_Mutation	SNP	A	A	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chrX:123220443A>T	ENST00000371160.1	+	30	3390	c.3100A>T	c.(3100-3102)Aga>Tga	p.R1034*	STAG2_ENST00000371157.3_Nonsense_Mutation_p.R1034*|STAG2_ENST00000371145.3_Nonsense_Mutation_p.R1034*|STAG2_ENST00000371144.3_Nonsense_Mutation_p.R1034*|STAG2_ENST00000354548.5_Nonsense_Mutation_p.R965*|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000218089.9_Nonsense_Mutation_p.R1034*	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	1034					meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of DNA endoreduplication (GO:0032876)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	actin cytoskeleton (GO:0015629)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)	p.R1034*(2)		breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						GTCACTCCGAAGAGAGGATGT	0.423																																							uc004etz.3		NA																	2	Substitution - Nonsense(2)		lung(2)	ovary(4)|skin(1)	5						c.(3100-3102)AGA>TGA		stromal antigen 2 isoform b							186.0	151.0	163.0					X																	123220443		2203	4300	6503	SO:0001587	stop_gained	10735				cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding	g.chrX:123220443A>T	Z75331	CCDS14607.1, CCDS43990.1	Xq25	2014-09-17			ENSG00000101972	ENSG00000101972			11355	protein-coding gene	gene with protein product		300826				9305759	Standard	NM_001042750		Approved	SA-2, SCC3B	uc004eua.3	Q8N3U4	OTTHUMG00000022725	ENST00000371160.1:c.3100A>T	X.37:g.123220443A>T	ENSP00000360202:p.Arg1034*					STAG2_uc004eua.2_Nonsense_Mutation_p.R1034*|STAG2_uc004eub.2_Nonsense_Mutation_p.R1034*|STAG2_uc004euc.2_Nonsense_Mutation_p.R1034*|STAG2_uc004eud.2_Nonsense_Mutation_p.R1034*|STAG2_uc004eue.2_Nonsense_Mutation_p.R1034*	p.R1034*	NM_006603	NP_006594	Q8N3U4	STAG2_HUMAN			29	3439	+			1034					B1AMT5|D3DTF5|O00540|Q5JTI6|Q68DE9|Q9H1N8	Nonsense_Mutation	SNP	ENST00000371160.1	37	c.3100A>T	CCDS14607.1	.	.	.	.	.	.	.	.	.	.	A	44	10.751559	0.99461	.	.	ENSG00000101972	ENST00000218089;ENST00000354548;ENST00000371160;ENST00000371157;ENST00000371145;ENST00000371144	.	.	.	5.22	4.03	0.46877	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.2464	11.5809	0.50891	0.8525:0.1474:0.0:0.0	.	.	.	.	X	1034;965;1034;1034;1034;1034	.	ENSP00000218089:R1034X	R	+	1	2	STAG2	123048124	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.128000	0.50492	0.706000	0.31912	0.417000	0.27973	AGA		0.423	STAG2-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000156159.2	NM_006603		26	90	0	0	0	0.008361	0	26	90				
SMARCA1	6594	broad.mit.edu	37	X	128650469	128650469	+	Silent	SNP	G	G	T	rs145557250	byFrequency	TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chrX:128650469G>T	ENST00000371122.4	-	3	396	c.267C>A	c.(265-267)gcC>gcA	p.A89A	SMARCA1_ENST00000371123.1_Silent_p.A89A|SMARCA1_ENST00000478420.1_Intron|SMARCA1_ENST00000371121.3_Silent_p.A89A	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1	89					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|DNA strand renaturation (GO:0000733)|neuron differentiation (GO:0030182)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)	CERF complex (GO:0090537)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|NURF complex (GO:0016589)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.A89A(1)		biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						TTGCTCGGTCGGCTTTCTAAT	0.343																																							uc004eun.3		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(1)	4						c.(265-267)GCC>GCA		SWI/SNF-related matrix-associated							94.0	95.0	95.0					X																	128650469		2203	4300	6503	SO:0001819	synonymous_variant	6594				ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex	ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding	g.chrX:128650469G>T	M88163	CCDS14612.1, CCDS76018.1, CCDS76019.1	Xq25	2008-02-05			ENSG00000102038	ENSG00000102038			11097	protein-coding gene	gene with protein product		300012		SNF2L1, SNF2L		1408766, 14609955	Standard	XM_005262461		Approved	SNF2LB, NURF140, ISWI, SWI	uc004eun.4	P28370	OTTHUMG00000022370	ENST00000371122.4:c.267C>A	X.37:g.128650469G>T						SMARCA1_uc004eup.3_Silent_p.A89A|SMARCA1_uc011muk.1_Silent_p.A89A|SMARCA1_uc011mul.1_Silent_p.A89A	p.A89A	NM_003069	NP_003060	P28370	SMCA1_HUMAN			3	380	-			89					Q5JV41|Q5JV42	Silent	SNP	ENST00000371122.4	37	c.267C>A	CCDS14612.1																																																																																				0.343	SMARCA1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058206.1	NM_003069		16	83	1	0	2.32078e-09	0.003163	3.14151e-09	16	83				
BCORL1	63035	broad.mit.edu	37	X	129147051	129147051	+	Silent	SNP	C	C	T	rs374936854		TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chrX:129147051C>T	ENST00000218147.7	+	4	500	c.303C>T	c.(301-303)taC>taT	p.Y101Y	BCORL1_ENST00000540052.1_Silent_p.Y101Y|BCORL1_ENST00000303743.5_Silent_p.Y101Y|BCORL1_ENST00000359304.2_Silent_p.Y101Y			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	101					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.Y101Y(1)		breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						AAATGGACTACGCTGGGAACG	0.607																																							uc004evb.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(4)|breast(2)|lung(1)	7						c.(301-303)TAC>TAT		BCL6 co-repressor-like 1		C		0,3833		0,0,0,1632,569	43.0	39.0	40.0		303	2.9	1.0	X		40	1,6725		0,0,1,2428,1869	no	coding-synonymous	BCORL1	NM_021946.4		0,0,1,4060,2438	TT,TC,T,CC,C		0.0149,0.0,0.0095		101/1712	129147051	1,10558	2201	4298	6499	SO:0001819	synonymous_variant	63035				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chrX:129147051C>T	AL136450	CCDS14616.1	Xq25-q26.1	2014-09-17	2010-06-10		ENSG00000085185	ENSG00000085185		"""Ankyrin repeat domain containing"""	25657	protein-coding gene	gene with protein product		300688	"""chromosome X open reading frame 10"", ""BCL6 co-repressor-like 1"""	CXorf10			Standard	NM_021946		Approved	FLJ11362	uc022cdu.1	Q5H9F3	OTTHUMG00000022379	ENST00000218147.7:c.303C>T	X.37:g.129147051C>T						BCORL1_uc010nrd.1_Silent_p.Y3Y	p.Y101Y	NM_021946	NP_068765	Q5H9F3	BCORL_HUMAN			4	417	+			101					B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Silent	SNP	ENST00000218147.7	37	c.303C>T	CCDS14616.1																																																																																				0.607	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058223.1	NM_021946		15	47	0	0	0	0.003163	0	15	47				
BCORL1	63035	broad.mit.edu	37	X	129148882	129148882	+	Missense_Mutation	SNP	A	A	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chrX:129148882A>T	ENST00000218147.7	+	4	2331	c.2134A>T	c.(2134-2136)Acc>Tcc	p.T712S	BCORL1_ENST00000540052.1_Missense_Mutation_p.T712S|BCORL1_ENST00000303743.5_Missense_Mutation_p.T712S|BCORL1_ENST00000359304.2_Missense_Mutation_p.T712S			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	712					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.T712S(1)		breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						ACTGATCAGCACCATTCCTGG	0.602																																							uc004evb.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|breast(2)|lung(1)	7						c.(2134-2136)ACC>TCC		BCL6 co-repressor-like 1							102.0	77.0	86.0					X																	129148882		2203	4300	6503	SO:0001583	missense	63035				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chrX:129148882A>T	AL136450	CCDS14616.1	Xq25-q26.1	2014-09-17	2010-06-10		ENSG00000085185	ENSG00000085185		"""Ankyrin repeat domain containing"""	25657	protein-coding gene	gene with protein product		300688	"""chromosome X open reading frame 10"", ""BCL6 co-repressor-like 1"""	CXorf10			Standard	NM_021946		Approved	FLJ11362	uc022cdu.1	Q5H9F3	OTTHUMG00000022379	ENST00000218147.7:c.2134A>T	X.37:g.129148882A>T	ENSP00000218147:p.Thr712Ser					BCORL1_uc010nrd.1_Missense_Mutation_p.T614S	p.T712S	NM_021946	NP_068765	Q5H9F3	BCORL_HUMAN			4	2248	+			712					B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Missense_Mutation	SNP	ENST00000218147.7	37	c.2134A>T	CCDS14616.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.35|13.35	2.210894|2.210894	0.39102|0.39102	.|.	.|.	ENSG00000085185|ENSG00000085185	ENST00000441294|ENST00000218147;ENST00000303743;ENST00000359304;ENST00000540052;ENST00000456822	.|T;T;T;T;T	.|0.51574	.|0.72;1.11;0.7;0.72;1.17	5.28|5.28	3.91|3.91	0.45181|0.45181	.|.	.|0.000000	.|0.37809	.|N	.|0.001939	T|T	0.34019|0.34019	0.0883|0.0883	N|N	0.14661|0.14661	0.345|0.345	0.32689|0.32689	N|N	0.514493|0.514493	.|P;D	.|0.62365	.|0.942;0.991	.|P;P	.|0.51016	.|0.647;0.656	T|T	0.27434|0.27434	-1.0074|-1.0074	5|10	.|0.12103	.|T	.|0.63	-19.2637|-19.2637	9.2102|9.2102	0.37313|0.37313	0.8415:0.0:0.1585:0.0|0.8415:0.0:0.1585:0.0	.|.	.|712;712	.|Q5H9F3-2;Q5H9F3	.|.;BCORL_HUMAN	L|S	147|712;712;712;712;312	.|ENSP00000218147:T712S;ENSP00000307541:T712S;ENSP00000352253:T712S;ENSP00000437775:T712S;ENSP00000399483:T312S	.|ENSP00000218147:T712S	H|T	+|+	2|1	0|0	BCORL1|BCORL1	128976563|128976563	0.997000|0.997000	0.39634|0.39634	1.000000|1.000000	0.80357|0.80357	0.722000|0.722000	0.41435|0.41435	1.512000|1.512000	0.35812|0.35812	1.766000|1.766000	0.52107|0.52107	0.356000|0.356000	0.21956|0.21956	CAC|ACC		0.602	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058223.1	NM_021946		9	47	0	0	0	0.006214	0	9	47				
AIFM1	9131	broad.mit.edu	37	X	129272583	129272583	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chrX:129272583C>A	ENST00000287295.3	-	9	1182	c.952G>T	c.(952-954)Gct>Tct	p.A318S	AIFM1_ENST00000346424.2_Intron|AIFM1_ENST00000319908.3_Missense_Mutation_p.A314S|AIFM1_ENST00000440263.1_5'Flank|AIFM1_ENST00000460436.2_5'Flank|AIFM1_ENST00000535724.1_Missense_Mutation_p.A231S	NM_001130847.3|NM_004208.3	NP_001124319.1|NP_004199.1	O95831	AIFM1_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 1	318	FAD-dependent oxidoreductase. {ECO:0000250}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cell redox homeostasis (GO:0045454)|chromosome condensation (GO:0030261)|DNA catabolic process (GO:0006308)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|mitochondrial respiratory chain complex I assembly (GO:0032981)|neuron apoptotic process (GO:0051402)|neuron differentiation (GO:0030182)|positive regulation of apoptotic process (GO:0043065)|regulation of apoptotic DNA fragmentation (GO:1902510)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|electron carrier activity (GO:0009055)|FAD binding (GO:0071949)|NAD(P)H oxidase activity (GO:0016174)|oxidoreductase activity, acting on NAD(P)H (GO:0016651)	p.A318S(1)|p.A314S(1)		central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(4)|prostate(2)|urinary_tract(1)	30					Flavin adenine dinucleotide(DB03147)	CTGCCAAGAGCACAGGCCAGT	0.453																																							uc004evg.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)|central_nervous_system(1)	5						c.(952-954)GCT>TCT		programmed cell death 8 isoform 1							118.0	107.0	111.0					X																	129272583		2203	4300	6503	SO:0001583	missense	9131				activation of caspase activity|apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change	cytosol|mitochondrial inner membrane|mitochondrial intermembrane space|nucleus|perinuclear region of cytoplasm	DNA binding|electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity|protein binding	g.chrX:129272583C>A	AF100928	CCDS14618.1, CCDS14619.1, CCDS48167.1	Xq26.1	2014-01-30	2006-11-16	2006-11-16	ENSG00000156709	ENSG00000156709			8768	protein-coding gene	gene with protein product		300169	"""programmed cell death 8 (apoptosis-inducing factor)"", ""neuropathy, axonal, motor-sensory with deafness and mental retardation (Cowchock syndrome)"""	PDCD8, NAMSD		9989411, 23217327	Standard	NM_004208		Approved	AIF, CMTX4	uc004evg.3	O95831	OTTHUMG00000022392	ENST00000287295.3:c.952G>T	X.37:g.129272583C>A	ENSP00000287295:p.Ala318Ser					AIFM1_uc011mur.1_5'Flank|AIFM1_uc011mus.1_Missense_Mutation_p.A318S|AIFM1_uc004evh.2_Missense_Mutation_p.A314S|AIFM1_uc004evi.2_Intron|AIFM1_uc004evk.2_RNA	p.A318S	NM_004208	NP_004199	O95831	AIFM1_HUMAN			9	1130	-			318			FAD-dependent oxidoreductase (By similarity).		A4QPB4|B1ALN1|B2RB08|D3DTE9|Q1L6K4|Q1L6K6|Q2QKE4|Q5JUZ7|Q6I9X6|Q9Y3I3|Q9Y3I4	Missense_Mutation	SNP	ENST00000287295.3	37	c.952G>T	CCDS14618.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.762724	0.89932	.	.	ENSG00000156709	ENST00000319908;ENST00000535724;ENST00000287295	T;T;T	0.59502	0.26;0.85;0.26	5.54	5.54	0.83059	Pyridine nucleotide-disulphide oxidoreductase, NAD-binding domain (1);Pyridine nucleotide-disulphide oxidoreductase, FAD/NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.72724	0.3496	M	0.71206	2.165	0.80722	D	1	P;P;P	0.42456	0.78;0.739;0.78	P;P;P	0.62382	0.901;0.553;0.682	T	0.67185	-0.5734	10	0.13853	T	0.58	-12.0976	16.6529	0.85221	0.0:1.0:0.0:0.0	.	318;314;318	Q1L6K6;O95831-3;O95831	.;.;AIFM1_HUMAN	S	314;231;318	ENSP00000315122:A314S;ENSP00000446113:A231S;ENSP00000287295:A318S	ENSP00000287295:A318S	A	-	1	0	AIFM1	129100264	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.445000	0.66594	2.306000	0.77630	0.600000	0.82982	GCT		0.453	AIFM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058247.2			20	97	1	0	7.45023e-12	0.010504	1.10031e-11	20	97				
ENOX2	10495	broad.mit.edu	37	X	129837135	129837135	+	Missense_Mutation	SNP	C	C	G			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chrX:129837135C>G	ENST00000370927.1	-	2	164	c.143G>C	c.(142-144)gGa>gCa	p.G48A	ENOX2_ENST00000338144.3_Missense_Mutation_p.G48A|ENOX2_ENST00000394363.1_Missense_Mutation_p.G19A|ENOX2_ENST00000492263.1_5'UTR|ENOX2_ENST00000370935.1_Missense_Mutation_p.G19A			Q16206	ENOX2_HUMAN	ecto-NOX disulfide-thiol exchanger 2	48					cell growth (GO:0016049)|oxidation-reduction process (GO:0055114)|regulation of growth (GO:0040008)|ultradian rhythm (GO:0007624)	cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)	nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|protein disulfide oxidoreductase activity (GO:0015035)	p.G48A(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(3)	33						CGGTGCCATTCCAAGATTATT	0.413																																					Ovarian(101;828 1506 2951 9500 35258)	Ovarian(101;828 1506 2951 9500 35258)	uc004evw.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(142-144)GGA>GCA		ecto-NOX disulfide-thiol exchanger 2 isoform b							131.0	109.0	116.0					X																	129837135		2203	4300	6503	SO:0001583	missense	10495				cell growth|electron transport chain|regulation of growth|transport|ultradian rhythm	cytosol|external side of plasma membrane|extracellular space	nucleic acid binding|nucleotide binding|protein disulfide oxidoreductase activity	g.chrX:129837135C>G	AF207881	CCDS14626.1, CCDS14627.1	Xq25	2013-02-12	2007-03-23	2007-03-23	ENSG00000165675	ENSG00000165675		"""RNA binding motif (RRM) containing"""	2259	protein-coding gene	gene with protein product		300282	"""cytosolic ovarian carcinoma antigen 1"""	COVA1		8150545, 11888291	Standard	NM_006375		Approved	APK1, tNOX	uc004evw.3	Q16206	OTTHUMG00000022401	ENST00000370927.1:c.143G>C	X.37:g.129837135C>G	ENSP00000359965:p.Gly48Ala					ENOX2_uc004evx.2_Missense_Mutation_p.G19A|ENOX2_uc004evy.2_Missense_Mutation_p.G19A	p.G48A	NM_182314	NP_872114	Q16206	ENOX2_HUMAN			5	561	-			48					A8K197|A8K1C2|Q5VTJ1|Q5VTJ2|Q8WUX0|Q9NTP6|Q9UH82	Missense_Mutation	SNP	ENST00000370927.1	37	c.143G>C	CCDS14626.1	.	.	.	.	.	.	.	.	.	.	C	19.81	3.897065	0.72639	.	.	ENSG00000165675	ENST00000538435;ENST00000370935;ENST00000338144;ENST00000394363;ENST00000350369;ENST00000370927;ENST00000432489	.	.	.	4.79	4.79	0.61399	.	0.066764	0.64402	D	0.000014	T	0.60495	0.2273	L	0.53249	1.67	0.44515	D	0.997463	D	0.60575	0.988	P	0.51324	0.666	T	0.60398	-0.7271	8	.	.	.	-18.892	12.2088	0.54367	0.0:1.0:0.0:0.0	.	48	Q16206	ENOX2_HUMAN	A	19;19;48;19;76;48;19	.	.	G	-	2	0	ENOX2	129664816	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.519000	0.67074	2.371000	0.80710	0.556000	0.70494	GGA		0.413	ENOX2-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058277.1	NM_182314		22	81	0	0	0	0.00278	0	22	81				
IGSF1	3547	broad.mit.edu	37	X	130409602	130409602	+	Nonsense_Mutation	SNP	G	G	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chrX:130409602G>A	ENST00000361420.3	-	16	3113	c.3034C>T	c.(3034-3036)Cag>Tag	p.Q1012*	IGSF1_ENST00000370903.3_Nonsense_Mutation_p.Q1017*|IGSF1_ENST00000370910.1_Nonsense_Mutation_p.Q1003*|IGSF1_ENST00000370904.1_Nonsense_Mutation_p.Q1003*|IGSF1_ENST00000467244.1_5'Flank			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	1012	Ig-like C2-type 10.				regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	coreceptor activity (GO:0015026)|inhibin binding (GO:0034711)|receptor activity (GO:0004872)	p.Q1012*(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						CCCCAGAGCTGCATTGAAGTG	0.537																																							uc004ewd.2		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(3)|lung(1)|central_nervous_system(1)	5						c.(3034-3036)CAG>TAG		immunoglobulin superfamily, member 1 isoform 1							123.0	105.0	111.0					X																	130409602		2203	4300	6503	SO:0001587	stop_gained	3547				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding	g.chrX:130409602G>A	AF034198	CCDS14629.1, CCDS14630.1, CCDS55490.1, CCDS55491.1	Xq25	2013-01-11			ENSG00000147255	ENSG00000147255		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5948	protein-coding gene	gene with protein product		300137				9521868, 9729118	Standard	NM_001555		Approved	KIAA0364, IGDC1, IGCD1, INHBP, MGC75490, PGSF2	uc004ewe.4	Q8N6C5	OTTHUMG00000022406	ENST00000361420.3:c.3034C>T	X.37:g.130409602G>A	ENSP00000355010:p.Gln1012*					IGSF1_uc004ewe.3_Nonsense_Mutation_p.Q1006*|IGSF1_uc004ewf.2_Nonsense_Mutation_p.Q992*	p.Q1012*	NM_001555	NP_001546	Q8N6C5	IGSF1_HUMAN			16	3272	-			1012			Extracellular (Potential).|Ig-like C2-type 10.		B5MEG2|H9KV64|O15070|Q9NTC8	Nonsense_Mutation	SNP	ENST00000361420.3	37	c.3034C>T	CCDS14629.1	.	.	.	.	.	.	.	.	.	.	G	37	6.071688	0.97256	.	.	ENSG00000147255	ENST00000370910;ENST00000361420;ENST00000370904;ENST00000370903	.	.	.	5.32	4.43	0.53597	.	0.172753	0.28203	N	0.016207	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	.	10.5373	0.45011	0.0:0.0:0.8066:0.1934	.	.	.	.	X	1003;1012;1003;1017	.	ENSP00000355010:Q1012X	Q	-	1	0	IGSF1	130237283	0.129000	0.22400	0.947000	0.38551	0.244000	0.25665	1.064000	0.30579	1.253000	0.44018	0.600000	0.82982	CAG		0.537	IGSF1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058288.1			18	71	0	0	0	0.006122	0	18	71				
GPC4	2239	broad.mit.edu	37	X	132473343	132473343	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chrX:132473343C>A	ENST00000370828.3	-	2	711	c.187G>T	c.(187-189)Ggt>Tgt	p.G63C	GPC4_ENST00000535467.1_5'UTR	NM_001448.2	NP_001439.2	O75487	GPC4_HUMAN	glypican 4	63					anatomical structure morphogenesis (GO:0009653)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)		p.G63C(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;0.000127)					CAGGTAGAACCCTGGGGACAG	0.423																																							uc004exc.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(187-189)GGT>TGT		glypican 4 precursor							100.0	85.0	90.0					X																	132473343		2203	4300	6503	SO:0001583	missense	2239				anatomical structure morphogenesis|cell proliferation	anchored to membrane|external side of plasma membrane|extracellular space|insoluble fraction|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	g.chrX:132473343C>A	AF030186	CCDS14637.1	Xq26.1	2008-02-05			ENSG00000076716	ENSG00000076716		"""Proteoglycans / Cell Surface : Glypicans"""	4452	protein-coding gene	gene with protein product	"""glypican proteoglycan 4"""	300168				9787072	Standard	NM_001448		Approved	K-glypican	uc004exc.1	O75487	OTTHUMG00000022434	ENST00000370828.3:c.187G>T	X.37:g.132473343C>A	ENSP00000359864:p.Gly63Cys					GPC4_uc011mvg.1_5'UTR	p.G63C	NM_001448	NP_001439	O75487	GPC4_HUMAN			2	399	-	Acute lymphoblastic leukemia(192;0.000127)		63					B2R6J7|B4E2C0|Q6ZMA6|Q96L43|Q9NU08|Q9UJN1|Q9UPD9	Missense_Mutation	SNP	ENST00000370828.3	37	c.187G>T	CCDS14637.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.6|21.6	4.173313|4.173313	0.78452|0.78452	.|.	.|.	ENSG00000076716|ENSG00000076716	ENST00000370828|ENST00000536418	T|.	0.56103|.	0.48|.	6.08|6.08	6.08|6.08	0.98989|0.98989	.|.	0.196483|0.196483	0.53938|0.53938	D|D	0.000042|0.000042	T|T	0.73814|0.73814	0.3635|0.3635	M|M	0.79475|0.79475	2.455|2.455	0.80722|0.80722	D|D	1|1	D|.	0.76494|.	0.999|.	D|.	0.74348|.	0.983|.	T|T	0.75096|0.75096	-0.3438|-0.3438	10|6	0.87932|.	D|.	0|.	0.8396|0.8396	11.4211|11.4211	0.49982|0.49982	0.0:0.916:0.0:0.084|0.0:0.916:0.0:0.084	.|.	63|.	O75487|.	GPC4_HUMAN|.	C|V	63|62	ENSP00000359864:G63C|.	ENSP00000359864:G63C|.	G|G	-|-	1|2	0|0	GPC4|GPC4	132301009|132301009	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.975000|0.975000	0.68041|0.68041	4.988000|4.988000	0.63863|0.63863	2.562000|2.562000	0.86427|0.86427	0.600000|0.600000	0.82982|0.82982	GGT|GGG		0.423	GPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058338.1	NM_001448		41	28	1	0	9.88483e-10	0.007835	1.35601e-09	41	28				
GPC4	2239	broad.mit.edu	37	X	132548911	132548911	+	Missense_Mutation	SNP	T	T	C			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chrX:132548911T>C	ENST00000370828.3	-	1	607	c.83A>G	c.(82-84)aAa>aGa	p.K28R	GPC4_ENST00000535467.1_5'Flank	NM_001448.2	NP_001439.2	O75487	GPC4_HUMAN	glypican 4	28					anatomical structure morphogenesis (GO:0009653)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)		p.K28R(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;0.000127)					CGAGCAACTTTTCGACTTGAG	0.642																																							uc004exc.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(82-84)AAA>AGA		glypican 4 precursor							67.0	62.0	64.0					X																	132548911		2203	4300	6503	SO:0001583	missense	2239				anatomical structure morphogenesis|cell proliferation	anchored to membrane|external side of plasma membrane|extracellular space|insoluble fraction|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	g.chrX:132548911T>C	AF030186	CCDS14637.1	Xq26.1	2008-02-05			ENSG00000076716	ENSG00000076716		"""Proteoglycans / Cell Surface : Glypicans"""	4452	protein-coding gene	gene with protein product	"""glypican proteoglycan 4"""	300168				9787072	Standard	NM_001448		Approved	K-glypican	uc004exc.1	O75487	OTTHUMG00000022434	ENST00000370828.3:c.83A>G	X.37:g.132548911T>C	ENSP00000359864:p.Lys28Arg					GPC4_uc011mvg.1_5'Flank	p.K28R	NM_001448	NP_001439	O75487	GPC4_HUMAN			1	295	-	Acute lymphoblastic leukemia(192;0.000127)		28					B2R6J7|B4E2C0|Q6ZMA6|Q96L43|Q9NU08|Q9UJN1|Q9UPD9	Missense_Mutation	SNP	ENST00000370828.3	37	c.83A>G	CCDS14637.1	.	.	.	.	.	.	.	.	.	.	T	7.467	0.645972	0.14451	.	.	ENSG00000076716	ENST00000370828;ENST00000536418	T	0.47528	0.84	4.42	4.42	0.53409	.	0.104529	0.64402	D	0.000006	T	0.24547	0.0595	N	0.11870	0.19	0.80722	D	1	B	0.14012	0.009	B	0.14578	0.011	T	0.10917	-1.0609	10	0.02654	T	1	-1.3013	10.7886	0.46419	0.0:0.0:0.0:1.0	.	28	O75487	GPC4_HUMAN	R	28	ENSP00000359864:K28R	ENSP00000359864:K28R	K	-	2	0	GPC4	132376577	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.226000	0.51254	1.437000	0.47472	0.430000	0.28490	AAA		0.642	GPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058338.1	NM_001448		13	82	0	0	0	0.001855	0	13	82				
SLC9A6	10479	broad.mit.edu	37	X	135106567	135106567	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chrX:135106567C>A	ENST00000370698.3	+	12	1480	c.1445C>A	c.(1444-1446)aCg>aAg	p.T482K	SLC9A6_ENST00000370701.1_Missense_Mutation_p.T462K|SLC9A6_ENST00000370695.4_Missense_Mutation_p.T514K	NM_006359.2	NP_006350.1	Q92581	SL9A6_HUMAN	solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6	482					axon extension (GO:0048675)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|dendrite extension (GO:0097484)|dendritic spine development (GO:0060996)|ion transport (GO:0006811)|neuron projection morphogenesis (GO:0048812)|regulation of neurotrophin TRK receptor signaling pathway (GO:0051386)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon terminus (GO:0043679)|axonal spine (GO:0044308)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|early endosome membrane (GO:0031901)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)|synapse (GO:0045202)	sodium:proton antiporter activity (GO:0015385)	p.T482K(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(18)|ovary(2)|upper_aerodigestive_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					TTCAGCACCACGCTTCTGATT	0.473																																							uc004ezj.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1444-1446)ACG>AAG		solute carrier family 9 (sodium/hydrogen							300.0	208.0	239.0					X																	135106567		2203	4300	6503	SO:0001583	missense	10479				regulation of pH	early endosome membrane|endoplasmic reticulum membrane|integral to membrane|microsome|plasma membrane|recycling endosome membrane	sodium:hydrogen antiporter activity	g.chrX:135106567C>A	AF030409	CCDS14654.1, CCDS44003.1, CCDS55504.1	Xq26.3	2013-05-22	2012-03-22		ENSG00000198689	ENSG00000198689		"""Solute carriers"""	11079	protein-coding gene	gene with protein product		300231	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 6"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 6"""			9507001	Standard	NM_001042537		Approved	NHE6, KIAA0267	uc004ezk.3	Q92581	OTTHUMG00000022498	ENST00000370698.3:c.1445C>A	X.37:g.135106567C>A	ENSP00000359732:p.Thr482Lys					SLC9A6_uc004ezk.2_Missense_Mutation_p.T514K	p.T482K	NM_006359	NP_006350	Q92581	SL9A6_HUMAN			12	1521	+	Acute lymphoblastic leukemia(192;0.000127)		482					A6NIQ9|A8K160|B4DU30|B7ZAE0|Q3ZCW7|Q5JPP8|Q5JPP9|Q86VS0	Missense_Mutation	SNP	ENST00000370698.3	37	c.1445C>A	CCDS14654.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.006105	0.93287	.	.	ENSG00000198689	ENST00000370701;ENST00000370698;ENST00000370695	T;T;T	0.17528	2.27;2.27;2.27	5.27	5.27	0.74061	Cation/H+ exchanger (1);	0.000000	0.85682	D	0.000000	T	0.57770	0.2076	H	0.96604	3.85	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.87578	0.991;0.998	T	0.74256	-0.3724	10	0.87932	D	0	.	16.3985	0.83631	0.0:1.0:0.0:0.0	.	514;482	Q92581-2;Q92581	.;SL9A6_HUMAN	K	462;482;514	ENSP00000359735:T462K;ENSP00000359732:T482K;ENSP00000359729:T514K	ENSP00000359729:T514K	T	+	2	0	SLC9A6	134934233	1.000000	0.71417	0.987000	0.45799	0.978000	0.69477	5.647000	0.67923	2.176000	0.68965	0.594000	0.82650	ACG		0.473	SLC9A6-001	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058450.1	NM_006359		16	106	1	0	0.000958276	0.007413	0.00104744	16	106				
GPR112	139378	broad.mit.edu	37	X	135443691	135443691	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chrX:135443691G>C	ENST00000394143.1	+	12	7513	c.7222G>C	c.(7222-7224)Gag>Cag	p.E2408Q	GPR112_ENST00000394141.1_Missense_Mutation_p.E2203Q|GPR112_ENST00000287534.4_Missense_Mutation_p.E2206Q|GPR112_ENST00000412101.1_Missense_Mutation_p.E2203Q|GPR112_ENST00000370652.1_Missense_Mutation_p.E2408Q	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2408					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.E2408Q(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CAACCCTACGGAGACAGCCCA	0.403																																							uc004ezu.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1)	12						c.(7222-7224)GAG>CAG		G-protein coupled receptor 112							141.0	108.0	119.0					X																	135443691		2203	4300	6503	SO:0001583	missense	139378				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:135443691G>C	AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.7222G>C	X.37:g.135443691G>C	ENSP00000377699:p.Glu2408Gln					GPR112_uc010nsb.1_Missense_Mutation_p.E2203Q|GPR112_uc010nsc.1_Missense_Mutation_p.E2036Q	p.E2408Q	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN			12	7513	+	Acute lymphoblastic leukemia(192;0.000127)		2408			Extracellular (Potential).		A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	ENST00000394143.1	37	c.7222G>C	CCDS35409.1	.	.	.	.	.	.	.	.	.	.	G	16.02	3.003248	0.54254	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.31510	1.53;1.53;1.49;1.79;1.49	5.79	5.79	0.91817	.	.	.	.	.	T	0.42177	0.1191	N	0.24115	0.695	0.22017	N	0.999415	D;D;D	0.76494	0.999;0.999;0.962	D;D;D	0.78314	0.989;0.991;0.968	T	0.34428	-0.9829	9	0.46703	T	0.11	.	14.244	0.65975	0.0:0.0:1.0:0.0	.	2206;2203;2408	Q8IZF6-2;Q8IZF6-3;Q8IZF6	.;.;GP112_HUMAN	Q	2408;2408;2203;2206;2203	ENSP00000377699:E2408Q;ENSP00000359686:E2408Q;ENSP00000416526:E2203Q;ENSP00000287534:E2206Q;ENSP00000377697:E2203Q	ENSP00000287534:E2206Q	E	+	1	0	GPR112	135271357	0.996000	0.38824	0.942000	0.38095	0.161000	0.22273	3.174000	0.50847	2.438000	0.82558	0.600000	0.82982	GAG		0.403	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			16	73	0	0	0	0.00499	0	16	73				
BRS3	680	broad.mit.edu	37	X	135570363	135570363	+	Silent	SNP	T	T	C			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chrX:135570363T>C	ENST00000370648.3	+	1	318	c.90T>C	c.(88-90)gaT>gaC	p.D30D	Z97632.1_ENST00000580943.1_RNA	NM_001727.1	NP_001718.1	P32247	BRS3_HUMAN	bombesin-like receptor 3	30					adult feeding behavior (GO:0008343)|glucose metabolic process (GO:0006006)|regulation of blood pressure (GO:0008217)	integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	bombesin receptor activity (GO:0004946)	p.D30D(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(1)	23	Acute lymphoblastic leukemia(192;0.000127)					TTTCTAACGATAACACAAATA	0.413																																							uc004ezv.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(88-90)GAT>GAC		bombesin-like receptor 3							106.0	93.0	98.0					X																	135570363		2203	4300	6503	SO:0001819	synonymous_variant	680				adult feeding behavior|glucose metabolic process|regulation of blood pressure	integral to membrane|plasma membrane	bombesin receptor activity	g.chrX:135570363T>C		CCDS14656.1	Xq26.3	2014-02-21			ENSG00000102239	ENSG00000102239		"""GPCR / Class A : Bombesin receptors"""	1113	protein-coding gene	gene with protein product		300107				8383682	Standard	NM_001727		Approved	BB3	uc004ezv.1	P32247	OTTHUMG00000022726	ENST00000370648.3:c.90T>C	X.37:g.135570363T>C							p.D30D	NM_001727	NP_001718	P32247	BRS3_HUMAN			1	239	+	Acute lymphoblastic leukemia(192;0.000127)		30			Extracellular (Potential).			Silent	SNP	ENST00000370648.3	37	c.90T>C	CCDS14656.1																																																																																				0.413	BRS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059005.1	NM_001727		43	42	0	0	0	0.00874	0	43	42				
ATP11C	286410	broad.mit.edu	37	X	138850587	138850587	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chrX:138850587C>A	ENST00000327569.3	-	20	2330	c.2232G>T	c.(2230-2232)tgG>tgT	p.W744C	ATP11C_ENST00000370557.1_Missense_Mutation_p.W741C|ATP11C_ENST00000370543.1_Missense_Mutation_p.W744C|ATP11C_ENST00000361648.2_Missense_Mutation_p.W744C|ATP11C_ENST00000359686.2_Missense_Mutation_p.W744C|ATP11C_ENST00000460773.1_5'UTR	NM_173694.4	NP_775965	Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	744					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|positive regulation of B cell differentiation (GO:0045579)|pre-B cell differentiation (GO:0002329)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.W744C(2)		breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					GATGTTCTGTCCATGCTCTGA	0.338																																							uc004faz.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(5)|large_intestine(3)	8						c.(2230-2232)TGG>TGT		ATPase, class VI, type 11C isoform a							87.0	74.0	79.0					X																	138850587		2203	4300	6503	SO:0001583	missense	286410				ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chrX:138850587C>A	AJ580094	CCDS14668.1, CCDS35410.1	Xq27.1	2011-06-09	2007-09-19		ENSG00000101974	ENSG00000101974		"""ATPases / P-type"""	13554	protein-coding gene	gene with protein product		300516	"""ATPase, Class VI, type 11C"""			11015572	Standard	NM_173694		Approved	ATPIG, ATPIQ	uc004faz.3	Q8NB49	OTTHUMG00000022538	ENST00000327569.3:c.2232G>T	X.37:g.138850587C>A	ENSP00000332756:p.Trp744Cys					ATP11C_uc004fax.2_5'UTR|ATP11C_uc004fay.2_RNA|ATP11C_uc004fba.2_Missense_Mutation_p.W744C	p.W744C	NM_173694	NP_775965	Q8NB49	AT11C_HUMAN			20	2331	-	Acute lymphoblastic leukemia(192;0.000127)		744			Cytoplasmic (Potential).		Q5JT69|Q5JT70|Q5JT71|Q5JT72|Q5JT73|Q6ZND5|Q6ZU50|Q6ZUP7|Q70IJ9|Q70IK0|Q8WX24	Missense_Mutation	SNP	ENST00000327569.3	37	c.2232G>T	CCDS14668.1	.	.	.	.	.	.	.	.	.	.	C	14.53	2.562002	0.45590	.	.	ENSG00000101974	ENST00000370557;ENST00000361648;ENST00000327569;ENST00000370543;ENST00000359686	T;T;T;T;T	0.06528	3.29;3.33;3.32;3.33;3.33	5.47	5.47	0.80525	HAD-like domain (1);	0.326738	0.35555	N	0.003125	T	0.13157	0.0319	N	0.17082	0.46	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.70935	0.964;0.971	T	0.26883	-1.0090	10	0.38643	T	0.18	.	17.2269	0.86973	0.0:1.0:0.0:0.0	.	744;744	Q8NB49-3;Q8NB49	.;AT11C_HUMAN	C	741;744;744;744;744	ENSP00000359588:W741C;ENSP00000355165:W744C;ENSP00000332756:W744C;ENSP00000359574:W744C;ENSP00000352715:W744C	ENSP00000332756:W744C	W	-	3	0	ATP11C	138678253	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.282000	0.58971	2.279000	0.76181	0.544000	0.68410	TGG		0.338	ATP11C-008	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354945.1	NM_173694		29	31	1	0	6.38683e-12	0.008361	9.45992e-12	29	31				
MAGEC3	139081	broad.mit.edu	37	X	140985492	140985492	+	Silent	SNP	C	C	G			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chrX:140985492C>G	ENST00000298296.1	+	8	1806	c.1806C>G	c.(1804-1806)tcC>tcG	p.S602S	MAGEC3_ENST00000536088.1_3'UTR|MAGEC3_ENST00000544766.1_3'UTR|MAGEC3_ENST00000443323.2_3'UTR|MAGEC3_ENST00000409007.1_3'UTR	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	602	MAGE 2. {ECO:0000255|PROSITE- ProRule:PRU00127}.							p.S602S(2)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					CCTTTCCATCCTGGTACATGG	0.478																																							uc011mwp.1		NA																	2	Substitution - coding silent(2)		lung(2)	skin(2)|central_nervous_system(1)	3						c.(1804-1806)TCC>TCG		melanoma antigen family C, 3 isoform 1							90.0	83.0	85.0					X																	140985492		2203	4300	6503	SO:0001819	synonymous_variant	139081							g.chrX:140985492C>G	AF490508	CCDS14676.1, CCDS14677.1	Xq27.2	2009-03-25			ENSG00000165509	ENSG00000165509			23798	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 2"""	300469				10861452	Standard	NM_138702		Approved	HCA2, MAGE-C3, CT7.2	uc011mwp.2	Q8TD91	OTTHUMG00000022570	ENST00000298296.1:c.1806C>G	X.37:g.140985492C>G						MAGEC3_uc004fbs.2_3'UTR|MAGEC3_uc010nsj.2_3'UTR	p.S602S	NM_138702	NP_619647	Q8TD91	MAGC3_HUMAN			8	1806	+	Acute lymphoblastic leukemia(192;6.56e-05)		602			MAGE 2.		Q3SYA7|Q5JZ43|Q9BZ80	Silent	SNP	ENST00000298296.1	37	c.1806C>G	CCDS14676.1																																																																																				0.478	MAGEC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058606.1	NM_138702		28	108	0	0	0	0.007291	0	28	108				
MAGEC1	9947	broad.mit.edu	37	X	140994985	140994985	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chrX:140994985C>A	ENST00000285879.4	+	4	2081	c.1795C>A	c.(1795-1797)Cct>Act	p.P599T	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	599								p.P599T(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TCCTCAGAGCCCTCCTCAGGG	0.582										HNSCC(15;0.026)																													uc004fbt.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4						c.(1795-1797)CCT>ACT		melanoma antigen family C, 1							216.0	230.0	225.0					X																	140994985		2203	4300	6503	SO:0001583	missense	9947						protein binding	g.chrX:140994985C>A	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 1"""	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.1795C>A	X.37:g.140994985C>A	ENSP00000285879:p.Pro599Thr	HNSCC(15;0.026)				MAGEC1_uc010nsl.1_Intron	p.P599T	NM_005462	NP_005453	O60732	MAGC1_HUMAN			4	2081	+	Acute lymphoblastic leukemia(192;6.56e-05)		599					A0PK03|O75451|Q8TCV4	Missense_Mutation	SNP	ENST00000285879.4	37	c.1795C>A	CCDS35417.1	.	.	.	.	.	.	.	.	.	.	c	10.85	1.466574	0.26335	.	.	ENSG00000155495	ENST00000285879	T	0.02369	4.32	0.96	-0.242	0.13039	.	.	.	.	.	T	0.03434	0.0099	N	0.08118	0	0.58432	D	0.999999	D	0.64830	0.994	D	0.73708	0.981	T	0.60203	-0.7309	9	0.87932	D	0	.	1.4094	0.02287	0.3501:0.3349:0.0:0.315	.	599	O60732	MAGC1_HUMAN	T	599	ENSP00000285879:P599T	ENSP00000285879:P599T	P	+	1	0	MAGEC1	140822651	0.000000	0.05858	0.012000	0.15200	0.012000	0.07955	0.024000	0.13555	0.187000	0.20147	0.190000	0.17370	CCT		0.582	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		89	477	1	0	1.50328e-30	0.00361	2.79336e-30	89	477				
MAGEC1	9947	broad.mit.edu	37	X	140996472	140996472	+	Silent	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chrX:140996472C>A	ENST00000285879.4	+	4	3568	c.3282C>A	c.(3280-3282)acC>acA	p.T1094T	MAGEC1_ENST00000406005.2_Silent_p.T161T	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	1094	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.							p.T1094T(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TAAAGAATACCGTCCCTATTA	0.453										HNSCC(15;0.026)																													uc004fbt.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4						c.(3280-3282)ACC>ACA		melanoma antigen family C, 1							146.0	133.0	137.0					X																	140996472		2203	4300	6503	SO:0001819	synonymous_variant	9947						protein binding	g.chrX:140996472C>A	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 1"""	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.3282C>A	X.37:g.140996472C>A		HNSCC(15;0.026)				MAGEC1_uc010nsl.1_Silent_p.T161T	p.T1094T	NM_005462	NP_005453	O60732	MAGC1_HUMAN			4	3568	+	Acute lymphoblastic leukemia(192;6.56e-05)		1094			MAGE.		A0PK03|O75451|Q8TCV4	Silent	SNP	ENST00000285879.4	37	c.3282C>A	CCDS35417.1																																																																																				0.453	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		28	209	1	0	8.16721e-17	0.002096	1.36387e-16	28	209				
FMR1	2332	broad.mit.edu	37	X	147011477	147011477	+	Nonsense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chrX:147011477G>T	ENST00000370475.4	+	6	558	c.430G>T	c.(430-432)Gag>Tag	p.E144*	FMR1_ENST00000334557.6_Nonsense_Mutation_p.E144*|FMR1_ENST00000370471.3_Nonsense_Mutation_p.E144*|FMR1_ENST00000370470.1_Nonsense_Mutation_p.E144*|FMR1_ENST00000439526.2_Nonsense_Mutation_p.E144*|FMR1_ENST00000218200.8_Nonsense_Mutation_p.E144*|FMR1_ENST00000440235.2_5'Flank|FMR1_ENST00000370477.1_Nonsense_Mutation_p.E144*	NM_002024.5	NP_002015.1	Q06787	FMR1_HUMAN	fragile X mental retardation 1	144					central nervous system development (GO:0007417)|mRNA transport (GO:0051028)|negative regulation of translational initiation (GO:0045947)	cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|membrane (GO:0016020)|mRNA cap binding complex (GO:0005845)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|synapse (GO:0045202)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.E144*(1)		NS(1)|breast(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	35	Acute lymphoblastic leukemia(192;6.56e-05)					GTGTGCCAAAGAGGCGGCACA	0.328									Fragile X syndrome																														uc010nst.2		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(430-432)GAG>TAG		fragile X mental retardation 1							60.0	54.0	56.0					X																	147011477		2203	4300	6503	SO:0001587	stop_gained	2332	Fragile_X_syndrome	Familial Cancer Database	Martin-Bell syndrome, FRAXA syndrome	mRNA transport|negative regulation of translational initiation	cytoplasm|mRNA cap binding complex|nucleolus|nucleoplasm|soluble fraction	mRNA binding|protein binding	g.chrX:147011477G>T	X69962	CCDS14682.1, CCDS55518.1, CCDS55519.1, CCDS76039.1	Xq27.3	2014-09-17			ENSG00000102081	ENSG00000102081			3775	protein-coding gene	gene with protein product		309550	"""premature ovarian failure 1"""	POF1, POF		1572655	Standard	NM_002024		Approved	FMRP, FRAXA, MGC87458	uc010nst.3	Q06787	OTTHUMG00000022606	ENST00000370475.4:c.430G>T	X.37:g.147011477G>T	ENSP00000359506:p.Glu144*					FMR1_uc011mwz.1_Nonsense_Mutation_p.E144*|FMR1_uc004fcj.2_Nonsense_Mutation_p.E144*|FMR1_uc004fck.3_Nonsense_Mutation_p.E144*|FMR1_uc004fcl.3_Nonsense_Mutation_p.E5*|FMR1_uc011mxa.1_5'Flank	p.E144*	NM_002024	NP_002015	Q06787	FMR1_HUMAN			6	619	+	Acute lymphoblastic leukemia(192;6.56e-05)		144					A6NNH4|D3DWT0|D3DWT1|D3DWT2|G8JL90|Q16578|Q5PQZ6|Q99054	Nonsense_Mutation	SNP	ENST00000370475.4	37	c.430G>T	CCDS14682.1	.	.	.	.	.	.	.	.	.	.	G	37	6.572507	0.97676	.	.	ENSG00000102081	ENST00000218200;ENST00000370471;ENST00000370477;ENST00000370475;ENST00000334557;ENST00000439526;ENST00000370470	.	.	.	5.26	5.26	0.73747	.	0.088940	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-5.602	17.0099	0.86403	0.0:0.0:1.0:0.0	.	.	.	.	X	144	.	ENSP00000218200:E144X	E	+	1	0	FMR1	146819169	1.000000	0.71417	1.000000	0.80357	0.641000	0.38312	9.735000	0.98825	2.312000	0.78011	0.600000	0.82982	GAG		0.328	FMR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058655.1	NM_002024		6	39	1	0	0.00198382	0.001984	0.00213417	6	39				
MAGEA11	4110	broad.mit.edu	37	X	148798268	148798268	+	Silent	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chrX:148798268G>T	ENST00000355220.5	+	5	1224	c.1122G>T	c.(1120-1122)gtG>gtT	p.V374V	MAGEA11_ENST00000333104.4_Silent_p.V345V	NM_005366.4	NP_005357.2	P43364	MAGAB_HUMAN	melanoma antigen family A, 11	374	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.V374V(1)		cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	9	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					ACCGGCAGGTGCCCGGCACTG	0.552																																							uc004fdq.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(1120-1122)GTG>GTT		melanoma antigen family A, 11 isoform a							114.0	111.0	112.0					X																	148798268		2203	4300	6503	SO:0001819	synonymous_variant	4110					cytoplasm|nucleus	protein binding	g.chrX:148798268G>T		CCDS48180.1	Xq28	2009-03-13			ENSG00000185247	ENSG00000185247			6798	protein-coding gene	gene with protein product	"""MAGE-11 antigen"", ""melanoma-associated antigen 11"", ""cancer/testis antigen family 1, member 11"""	300344		MAGE11		8575766	Standard	NM_001011544		Approved	MAGE-11, MAGEA-11, MGC10511, CT1.11	uc004fdq.3	P43364	OTTHUMG00000022633	ENST00000355220.5:c.1122G>T	X.37:g.148798268G>T						HSFX2_uc004fdl.2_Intron|HSFX1_uc004fdm.2_Intron|MAGEA11_uc004fdr.2_Silent_p.V345V	p.V374V	NM_005366	NP_005357	P43364	MAGAB_HUMAN			5	1224	+	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)		374			MAGE.		Q5ETU4|Q6ZRZ5	Silent	SNP	ENST00000355220.5	37	c.1122G>T	CCDS48180.1																																																																																				0.552	MAGEA11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058725.4	NM_005366		139	118	1	0	4.74804e-72	0.00361	9.19034e-72	139	118				
PASD1	139135	broad.mit.edu	37	X	150832785	150832785	+	Missense_Mutation	SNP	T	T	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chrX:150832785T>A	ENST00000370357.4	+	11	1281	c.1036T>A	c.(1036-1038)Tca>Aca	p.S346T		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	346						nucleus (GO:0005634)	signal transducer activity (GO:0004871)	p.S346T(2)		breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					TCCAGAGGACTCAGTGGACCT	0.587																																							uc004fev.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)	3						c.(1036-1038)TCA>ACA		PAS domain containing 1							55.0	52.0	53.0					X																	150832785		2203	4300	6503	SO:0001583	missense	139135					nucleus	signal transducer activity	g.chrX:150832785T>A	AY270020	CCDS35431.1	Xq28	2009-08-06			ENSG00000166049	ENSG00000166049			20686	protein-coding gene	gene with protein product	"""cancer/testis antigen 63"""					15122589, 15162151	Standard	NM_173493		Approved	CT63	uc004fev.4	Q8IV76	OTTHUMG00000024169	ENST00000370357.4:c.1036T>A	X.37:g.150832785T>A	ENSP00000359382:p.Ser346Thr						p.S346T	NM_173493	NP_775764	Q8IV76	PASD1_HUMAN			11	1368	+	Acute lymphoblastic leukemia(192;6.56e-05)		346					Q3MNE0|Q69HD7|Q8N7X9	Missense_Mutation	SNP	ENST00000370357.4	37	c.1036T>A	CCDS35431.1	.	.	.	.	.	.	.	.	.	.	T	9.992	1.231059	0.22626	.	.	ENSG00000166049	ENST00000370357	T	0.37235	1.21	2.18	-2.23	0.06930	.	.	.	.	.	T	0.21347	0.0514	N	0.24115	0.695	0.09310	N	1	P	0.34977	0.478	B	0.38020	0.263	T	0.19031	-1.0318	9	0.45353	T	0.12	.	3.7426	0.08536	0.0:0.2957:0.4794:0.2249	.	346	Q8IV76	PASD1_HUMAN	T	346	ENSP00000359382:S346T	ENSP00000359382:S346T	S	+	1	0	PASD1	150583441	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.947000	0.03901	-0.647000	0.05444	-0.438000	0.05819	TCA		0.587	PASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060879.2	NM_173493		7	63	0	0	0	0.004482	0	7	63				
MAGEA4	4103	broad.mit.edu	37	X	151092781	151092781	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chrX:151092781C>A	ENST00000360243.2	+	3	912	c.645C>A	c.(643-645)gaC>gaA	p.D215E	MAGEA4_ENST00000370337.4_Missense_Mutation_p.D215E|MAGEA4_ENST00000370340.3_Missense_Mutation_p.D215E|MAGEA4_ENST00000370335.1_Missense_Mutation_p.D215E|MAGEA4_ENST00000393920.1_Missense_Mutation_p.D215E|MAGEA4_ENST00000276344.2_Missense_Mutation_p.D215E|MAGEA4_ENST00000393921.1_Missense_Mutation_p.D215E	NM_001011550.1	NP_001011550.1	P43358	MAGA4_HUMAN	melanoma antigen family A, 4	215	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.							p.D215E(1)		breast(2)|central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)	27	Acute lymphoblastic leukemia(192;6.56e-05)					TGGAGGGCGACAGCGCCTCTG	0.562																																							uc004fez.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)|central_nervous_system(1)	3						c.(643-645)GAC>GAA		melanoma antigen family A, 4							105.0	108.0	107.0					X																	151092781		2203	4300	6503	SO:0001583	missense	4103						protein binding	g.chrX:151092781C>A		CCDS14702.1	Xq28	2009-03-13			ENSG00000147381	ENSG00000147381			6802	protein-coding gene	gene with protein product	"""melanoma-associated antigen 4"", ""cancer/testis antigen family 1, member 4"""	300175		MAGE4		8575766	Standard	XM_005274677		Approved	MAGE4A, MAGE4B, MAGE-41, MAGE-X2, MGC21336, CT1.4	uc004ffa.3	P43358	OTTHUMG00000024174	ENST00000360243.2:c.645C>A	X.37:g.151092781C>A	ENSP00000353379:p.Asp215Glu					MAGEA4_uc004ffa.2_Missense_Mutation_p.D215E|MAGEA4_uc004ffb.2_Missense_Mutation_p.D215E|MAGEA4_uc004ffc.2_Missense_Mutation_p.D215E|MAGEA4_uc004ffd.2_Missense_Mutation_p.D215E	p.D215E	NM_002362	NP_002353	P43358	MAGA4_HUMAN			3	801	+	Acute lymphoblastic leukemia(192;6.56e-05)		215			MAGE.		Q14798	Missense_Mutation	SNP	ENST00000360243.2	37	c.645C>A	CCDS14702.1	.	.	.	.	.	.	.	.	.	.	C	10.43	1.348854	0.24426	.	.	ENSG00000147381	ENST00000276344;ENST00000448295;ENST00000393921;ENST00000430273;ENST00000370337;ENST00000441865;ENST00000393920;ENST00000370340;ENST00000416020;ENST00000425182;ENST00000457310;ENST00000370335;ENST00000360243;ENST00000431971	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.04454	3.62;3.62;3.62;3.62;3.62;3.62;3.62;3.62;3.62;3.62;3.62;3.62;3.62;3.62	2.37	2.37	0.29283	.	0.499344	0.24474	N	0.038204	T	0.05547	0.0146	L	0.60455	1.87	0.09310	N	1	B	0.23937	0.094	B	0.22880	0.042	T	0.27157	-1.0082	9	.	.	.	.	7.4975	0.27498	0.0:1.0:0.0:0.0	.	215	P43358	MAGA4_HUMAN	E	215	ENSP00000276344:D215E;ENSP00000391904:D215E;ENSP00000377498:D215E;ENSP00000394149:D215E;ENSP00000359362:D215E;ENSP00000402624:D215E;ENSP00000377497:D215E;ENSP00000359365:D215E;ENSP00000394073:D215E;ENSP00000400900:D215E;ENSP00000402186:D215E;ENSP00000359360:D215E;ENSP00000353379:D215E;ENSP00000390096:D215E	.	D	+	3	2	MAGEA4	150843437	0.000000	0.05858	0.001000	0.08648	0.020000	0.10135	-0.524000	0.06222	1.467000	0.48044	0.292000	0.19580	GAC		0.562	MAGEA4-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060898.1	NM_002362		13	121	1	0	7.93312e-07	0.00245	9.7214e-07	13	121				
ATP2B3	492	broad.mit.edu	37	X	152818574	152818574	+	Silent	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chrX:152818574C>A	ENST00000349466.2	+	12	2231	c.1905C>A	c.(1903-1905)atC>atA	p.I635I	ATP2B3_ENST00000370181.2_Silent_p.I621I|ATP2B3_ENST00000263519.4_Silent_p.I635I|ATP2B3_ENST00000393842.1_Silent_p.I621I|ATP2B3_ENST00000359149.3_Silent_p.I635I|ATP2B3_ENST00000370186.1_Silent_p.I621I			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	635					blood coagulation (GO:0007596)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)	p.I635I(3)|p.I621I(1)		NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGAAGATCATCGAGCCGATGG	0.627																																							uc004fht.1		NA																	4	Substitution - coding silent(4)		lung(4)	pancreas(1)	1						c.(1903-1905)ATC>ATA		plasma membrane calcium ATPase 3 isoform 3b							74.0	59.0	64.0					X																	152818574		2203	4300	6503	SO:0001819	synonymous_variant	492				ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding	g.chrX:152818574C>A	U60414	CCDS14722.1, CCDS35440.1	Xq28	2014-07-18			ENSG00000067842	ENSG00000067842	3.6.3.8	"""ATPases / P-type"""	816	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 3"", ""cilia and flagella associated protein 39"""	300014	"""spinocerebellar ataxia, X-linked 1"", ""cerebellar ataxia 2 (X-linked)"""	SCAX1, CLA2		8187550, 22912398	Standard	NM_021949		Approved	PMCA3, CFAP39	uc004fht.1	Q16720	OTTHUMG00000024202	ENST00000349466.2:c.1905C>A	X.37:g.152818574C>A						ATP2B3_uc004fhs.1_Silent_p.I635I	p.I635I	NM_001001344	NP_001001344	Q16720	AT2B3_HUMAN			11	2031	+	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		635			Cytoplasmic (Potential).		B7WNR8|B7WNY5|Q12995|Q16858	Silent	SNP	ENST00000349466.2	37	c.1905C>A	CCDS35440.1																																																																																				0.627	ATP2B3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060957.1	NM_021949		8	37	1	0	5.18039e-06	0.00308	6.17778e-06	8	37				
L1CAM	3897	broad.mit.edu	37	X	153137773	153137773	+	Silent	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chrX:153137773G>T	ENST00000370060.1	-	5	423	c.234C>A	c.(232-234)ccC>ccA	p.P78P	L1CAM_ENST00000361699.4_Silent_p.P78P|L1CAM_ENST00000370057.3_Silent_p.P78P|L1CAM_ENST00000370055.1_Silent_p.P73P|L1CAM_ENST00000361981.3_Silent_p.P73P|L1CAM_ENST00000538883.1_Silent_p.P80P|L1CAM_ENST00000543994.1_Silent_p.P80P	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	78	Ig-like C2-type 1.				axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cell-cell adhesion mediated by integrin (GO:0033631)|chemotaxis (GO:0006935)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|homotypic cell-cell adhesion (GO:0034109)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|nervous system development (GO:0007399)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	sialic acid binding (GO:0033691)	p.P78P(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCTCTTCCTTGGGTTTGAAGT	0.607																																							uc004fjb.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(8)|central_nervous_system(1)	9						c.(232-234)CCC>CCA		L1 cell adhesion molecule isoform 1 precursor							102.0	83.0	90.0					X																	153137773		2203	4300	6503	SO:0001819	synonymous_variant	3897				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane		g.chrX:153137773G>T	M74387	CCDS14733.1, CCDS14734.1, CCDS48192.1	Xq28	2014-09-17	2003-04-07		ENSG00000198910	ENSG00000198910		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	6470	protein-coding gene	gene with protein product		308840	"""antigen identified by monoclonal antibody R1"""	HSAS1, SPG1, HSAS, MASA, MIC5, S10			Standard	NM_001278116		Approved	CD171	uc031tks.1	P32004	OTTHUMG00000024221	ENST00000370060.1:c.234C>A	X.37:g.153137773G>T						L1CAM_uc004fjc.2_Silent_p.P78P|L1CAM_uc010nuo.2_Silent_p.P73P|L1CAM_uc004fjd.1_5'Flank|L1CAM_uc004fje.1_Silent_p.P73P	p.P78P	NM_000425	NP_000416	P32004	L1CAM_HUMAN			4	342	-	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		78			Extracellular (Potential).|Ig-like C2-type 1.		A0AV65|A4ZYW4|B2RMU7|G3XAF4|Q8TA87	Silent	SNP	ENST00000370060.1	37	c.234C>A	CCDS14733.1																																																																																				0.607	L1CAM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061094.2	NM_024003		32	20	1	0	2.48696e-23	0.003271	4.49058e-23	32	20				
HCFC1	3054	broad.mit.edu	37	X	153220719	153220719	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chrX:153220719G>T	ENST00000310441.7	-	17	4097	c.3131C>A	c.(3130-3132)aCc>aAc	p.T1044N	HCFC1_ENST00000369984.4_Missense_Mutation_p.T1044N|HCFC1_ENST00000354233.3_Missense_Mutation_p.T975N	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1	1044					cell cycle (GO:0007049)|chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell cycle (GO:0045787)|positive regulation of gene expression (GO:0010628)|protein stabilization (GO:0050821)|regulation of protein complex assembly (GO:0043254)|regulation of transcription, DNA-templated (GO:0006355)|release from viral latency (GO:0019046)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|membrane (GO:0016020)|mitochondrion (GO:0005739)|MLL1 complex (GO:0071339)|MLL5-L complex (GO:0070688)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)	p.T947N(1)|p.T1044N(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTGCACTTGGGTGGGCTGGGG	0.597																																							uc004fjp.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(3130-3132)ACC>AAC		host cell factor 1							76.0	82.0	80.0					X																	153220719		2170	4245	6415	SO:0001583	missense	3054				cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chrX:153220719G>T		CCDS44020.1	Xq28	2014-06-12	2014-06-09		ENSG00000172534	ENSG00000172534			4839	protein-coding gene	gene with protein product	"""VP16-accessory protein"", ""protein phosphatase 1, regulatory subunit 89"""	300019	"""mental retardation, X-linked 3"", ""host cell factor C1 (VP16-accessory protein)"""	HFC1, MRX3		8392914, 23000143	Standard	XM_005274664		Approved	HCF-1, HCF1, CFF, VCAF, MGC70925, PPP1R89	uc004fjp.3	P51610	OTTHUMG00000024222	ENST00000310441.7:c.3131C>A	X.37:g.153220719G>T	ENSP00000309555:p.Thr1044Asn						p.T1044N	NM_005334	NP_005325	P51610	HCFC1_HUMAN			17	3659	-	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		1044					Q6P4G5	Missense_Mutation	SNP	ENST00000310441.7	37	c.3131C>A	CCDS44020.1	.	.	.	.	.	.	.	.	.	.	g	9.967	1.224518	0.22457	.	.	ENSG00000172534	ENST00000310441;ENST00000369984;ENST00000354233	T;T;T	0.03496	3.93;3.93;3.91	5.18	4.31	0.51392	.	0.686902	0.14115	N	0.340402	T	0.02494	0.0076	N	0.08118	0	0.25498	N	0.987581	B	0.02656	0.0	B	0.01281	0.0	T	0.46317	-0.9200	10	0.27082	T	0.32	.	11.237	0.48946	0.0:0.0:0.6686:0.3313	.	1044	P51610	HCFC1_HUMAN	N	1044;1044;975	ENSP00000309555:T1044N;ENSP00000359001:T1044N;ENSP00000346174:T975N	ENSP00000309555:T1044N	T	-	2	0	HCFC1	152873913	0.995000	0.38212	0.827000	0.32855	0.461000	0.32589	2.313000	0.43735	0.953000	0.37825	0.525000	0.51046	ACC		0.597	HCFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061099.4	NM_005334		15	135	1	0	4.7546e-09	0.004007	6.3519e-09	15	135				
TKTL1	8277	broad.mit.edu	37	X	153539266	153539266	+	Missense_Mutation	SNP	T	T	G			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chrX:153539266T>G	ENST00000369915.3	+	4	619	c.430T>G	c.(430-432)Tac>Gac	p.Y144D	TKTL1_ENST00000217905.7_Intron|TKTL1_ENST00000369912.2_Missense_Mutation_p.Y88D	NM_001145933.1|NM_012253.3	NP_001139405.1|NP_036385.3	P51854	TKTL1_HUMAN	transketolase-like 1	144					glucose catabolic process (GO:0006007)|thiamine metabolic process (GO:0006772)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|transketolase activity (GO:0004802)	p.Y144D(1)		NS(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(5)|prostate(1)|skin(1)|urinary_tract(2)	34	all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TGCTTCCTACTACAGTCTGGA	0.542																																							uc004fkg.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(430-432)TAC>GAC		transketolase-like 1 isoform a							153.0	116.0	129.0					X																	153539266		2203	4300	6503	SO:0001583	missense	8277				glucose catabolic process|thiamine metabolic process	cytoplasm|nucleus	metal ion binding|transketolase activity	g.chrX:153539266T>G	X91817	CCDS35448.1, CCDS55541.1	Xq28	2008-02-05			ENSG00000007350	ENSG00000007350			11835	protein-coding gene	gene with protein product		300044				8838793	Standard	NM_012253		Approved	TKR, TKT2	uc004fkg.3	P51854	OTTHUMG00000022707	ENST00000369915.3:c.430T>G	X.37:g.153539266T>G	ENSP00000358931:p.Tyr144Asp					TKTL1_uc011mzl.1_Missense_Mutation_p.Y138D|TKTL1_uc011mzm.1_Intron|TKTL1_uc004fkh.2_Missense_Mutation_p.Y88D	p.Y144D	NM_012253	NP_036385	P51854	TKTL1_HUMAN			4	616	+	all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		144					A8K896|Q5TYJ8|Q5TYJ9|Q8TC75	Missense_Mutation	SNP	ENST00000369915.3	37	c.430T>G	CCDS35448.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.65|16.65	3.181327|3.181327	0.57800|0.57800	.|.	.|.	ENSG00000007350|ENSG00000007350	ENST00000426203|ENST00000369915;ENST00000441970;ENST00000426989;ENST00000369912	.|T;T;T	.|0.23552	.|1.9;1.9;1.9	4.28|4.28	1.84|1.84	0.25277|0.25277	.|Transketolase, N-terminal (1);	.|0.061993	.|0.64402	.|D	.|0.000002	T|T	0.57184|0.57184	0.2036|0.2036	H|H	0.95187|0.95187	3.635|3.635	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.97110	.|1.0;1.0	T|T	0.58440|0.58440	-0.7636|-0.7636	5|10	.|0.72032	.|D	.|0.01	-19.4997|-19.4997	7.435|7.435	0.27150|0.27150	0.0:0.1924:0.0:0.8076|0.0:0.1924:0.0:0.8076	.|.	.|138;144	.|B7Z7I0;P51854	.|.;TKTL1_HUMAN	R|D	126|144;88;144;88	.|ENSP00000358931:Y144D;ENSP00000401111:Y144D;ENSP00000358928:Y88D	.|ENSP00000358928:Y88D	L|Y	+|+	2|1	0|0	TKTL1|TKTL1	153192460|153192460	1.000000|1.000000	0.71417|0.71417	0.812000|0.812000	0.32479|0.32479	0.816000|0.816000	0.46133|0.46133	4.754000|4.754000	0.62191|0.62191	0.157000|0.157000	0.19338|0.19338	-0.434000|-0.434000	0.05882|0.05882	CTA|TAC		0.542	TKTL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058923.1	NM_012253		3	106	0	0	0	0.004672	0	3	106				
MTCP1	4515	broad.mit.edu	37	X	154293943	154293943	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chrX:154293943C>A	ENST00000369476.3	-	3	806	c.227G>T	c.(226-228)cGc>cTc	p.R76L	CMC4_ENST00000369484.3_Intron|MTCP1_ENST00000362018.2_Missense_Mutation_p.R76L|CMC4_ENST00000369479.1_5'Flank|MTCP1_ENST00000482244.1_5'UTR	NM_001018025.3	NP_001018025.1	P56278	MTCP1_HUMAN	mature T-cell proliferation 1	76					cell proliferation (GO:0008283)	mitochondrion (GO:0005739)		p.R76L(2)		large_intestine(1)|lung(2)|prostate(1)|urinary_tract(1)	5	all_cancers(53;3.51e-17)|all_epithelial(53;5.13e-11)|all_lung(58;3.84e-07)|Lung NSC(58;1.2e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					ATCCATGTAGCGCTCCTCCGG	0.478			T	TRA@	T cell prolymphocytic leukemia																																		uc004fmz.2		NA		Dom	yes		X	Xq28	4515	T	mature T-cell proliferation 1			L	TRA@		T cell prolymphocytic leukemia		2	Substitution - Missense(2)		lung(2)	lung(1)	1						c.(226-228)CGC>CTC		mature T-cell proliferation 1							114.0	111.0	112.0					X																	154293943		2048	4190	6238	SO:0001583	missense	4515				cell proliferation			g.chrX:154293943C>A		CCDS44027.1	Xq28	2011-10-10			ENSG00000214827	ENSG00000214827			7423	protein-coding gene	gene with protein product		300116				8361760, 8634440, 9691281	Standard	NM_001018025		Approved	P13MTCP1, p8MTCP1	uc004fmz.2	P56278	OTTHUMG00000156241	ENST00000369476.3:c.227G>T	X.37:g.154293943C>A	ENSP00000358488:p.Arg76Leu					MTCP1NB_uc004fmy.2_Intron	p.R76L	NM_001018025	NP_001018025	P56278	MTCP1_HUMAN			3	853	-	all_cancers(53;3.51e-17)|all_epithelial(53;5.13e-11)|all_lung(58;3.84e-07)|Lung NSC(58;1.2e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		76					Q5HYP2	Missense_Mutation	SNP	ENST00000369476.3	37	c.227G>T	CCDS44027.1	.	.	.	.	.	.	.	.	.	.	C	12.93	2.084590	0.36758	.	.	ENSG00000214827	ENST00000369476;ENST00000362018	T;T	0.33216	1.42;1.42	5.29	4.2	0.49525	.	0.182972	0.39020	N	0.001497	T	0.25717	0.0626	L	0.52905	1.665	0.39537	D	0.968763	B	0.26041	0.14	B	0.24701	0.055	T	0.27536	-1.0071	10	0.72032	D	0.01	-5.8371	4.7185	0.12906	0.0:0.755:0.0:0.245	.	76	P56278	MTCP1_HUMAN	L	76	ENSP00000358488:R76L;ENSP00000355058:R76L	ENSP00000355058:R76L	R	-	2	0	MTCP1	153947137	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.714000	0.37961	2.350000	0.79820	0.513000	0.50165	CGC		0.478	MTCP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058776.1	NM_001018025		18	161	1	0	8.10497e-08	0.010504	1.03412e-07	18	161				
CLIC2	1193	broad.mit.edu	37	X	154507270	154507270	+	Silent	SNP	A	A	G			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chrX:154507270A>G	ENST00000369449.2	-	6	884	c.666T>C	c.(664-666)cgT>cgC	p.R222R	CLIC2_ENST00000465553.1_5'UTR	NM_001289.4	NP_001280.3	O15247	CLIC2_HUMAN	chloride intracellular channel 2	222	C-terminal.|GST C-terminal.				chloride transmembrane transport (GO:1902476)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|oxidation-reduction process (GO:0055114)|positive regulation of binding (GO:0051099)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|signal transduction (GO:0007165)|transport (GO:0006810)	chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	chloride channel activity (GO:0005254)|glutathione peroxidase activity (GO:0004602)|voltage-gated chloride channel activity (GO:0005247)	p.R222R(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)	18	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TAAATTCTTCACGGGCATAGG	0.413																																					Melanoma(108;581 1592 2289 21669 28822)	Melanoma(108;581 1592 2289 21669 28822)	uc004fnf.2		NA																	1	Substitution - coding silent(1)	p.R222H(1)	lung(1)	large_intestine(1)|ovary(1)|skin(1)	3						c.(664-666)CGT>CGC		chloride intracellular channel 2							119.0	107.0	111.0					X																	154507270		2203	4300	6503	SO:0001819	synonymous_variant	1193				signal transduction	chloride channel complex|cytoplasm|nucleus	voltage-gated chloride channel activity	g.chrX:154507270A>G	AJ000217	CCDS14767.1	Xq28	2012-09-26			ENSG00000155962	ENSG00000155962		"""Ion channels / Chloride channels : Intracellular"""	2063	protein-coding gene	gene with protein product		300138				9339381	Standard	NM_001289		Approved	XAP121	uc004fnf.3	O15247	OTTHUMG00000022660	ENST00000369449.2:c.666T>C	X.37:g.154507270A>G							p.R222R	NM_001289	NP_001280	O15247	CLIC2_HUMAN			6	916	-	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		222			GST C-terminal.|C-terminal.		A8K9S0|O15174|Q5JT80|Q8TCE3	Silent	SNP	ENST00000369449.2	37	c.666T>C	CCDS14767.1																																																																																				0.413	CLIC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058793.1	NM_001289		15	136	0	0	0	0.00499	0	15	136				
PLA2G4A	5321	broad.mit.edu	37	1	186862291	186862291	+	Splice_Site	DEL	G	G	-			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr1:186862291delG	ENST00000367466.3	+	4	416	c.264delG	c.(262-264)gag>ga	p.E88fs	PLA2G4A_ENST00000442353.2_Splice_Site_p.E88fs|PLA2G4A_ENST00000466600.1_3'UTR	NM_024420.2	NP_077734	P47712	PA24A_HUMAN	phospholipase A2, group IVA (cytosolic, calcium-dependent)	88	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.|Phospholipid binding. {ECO:0000305}.				arachidonic acid metabolic process (GO:0019369)|arachidonic acid secretion (GO:0050482)|blood coagulation (GO:0007596)|cardiolipin acyl-chain remodeling (GO:0035965)|cellular response to antibiotic (GO:0071236)|glycerophospholipid biosynthetic process (GO:0046474)|icosanoid biosynthetic process (GO:0046456)|icosanoid metabolic process (GO:0006690)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|platelet activating factor biosynthetic process (GO:0006663)|platelet activation (GO:0030168)|regulation of cell proliferation (GO:0042127)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)|calcium-dependent phospholipid binding (GO:0005544)|lysophospholipase activity (GO:0004622)|phospholipase A2 activity (GO:0004623)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53					Aldesleukin(DB00041)|Carbachol(DB00411)|Carbenicillin(DB00578)|Epirubicin(DB00445)|Fluocinolone Acetonide(DB00591)|Fluticasone Propionate(DB00588)|Niflumic Acid(DB04552)|Orlistat(DB01083)|Quinacrine(DB01103)|Streptokinase(DB00086)|Suramin(DB04786)	ATGTTTTGGAGGTAAGTGAAC	0.373																																							uc001gsc.2		NA																	0				lung(2)|breast(1)	3						c.(262-264)GAGfs		cytosolic phospholipase A2, group IVA	Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103)						160.0	164.0	163.0					1																	186862291		2203	4300	6503	SO:0001630	splice_region_variant	5321				phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation	cytosol|endoplasmic reticulum membrane	calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity	g.chr1:186862291delG	M72393	CCDS1372.1	1q25	2014-09-17			ENSG00000116711	ENSG00000116711	3.1.1.4, 3.1.1.5		9035	protein-coding gene	gene with protein product		600522		PLA2G4		8175726	Standard	NM_024420		Approved	cPLA2-alpha	uc001gsc.3	P47712	OTTHUMG00000035512	ENST00000367466.3:c.264+1G>-	1.37:g.186862291delG						PLA2G4A_uc010pos.1_Frame_Shift_Del_p.E88fs	p.E88fs	NM_024420	NP_077734	P47712	PA24A_HUMAN			4	469	+			88			C2.|Phospholipid binding (Probable).		B1AKG4|Q29R80	Frame_Shift_Del	DEL	ENST00000367466.3	37	c.264delG	CCDS1372.1																																																																																				0.373	PLA2G4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086236.1	NM_024420	Frame_Shift_Del	46	241	NA	NA	NA	NA	NA	46	241	---	---	---	---
KIF26B	55083	broad.mit.edu	37	1	245851437	245851437	+	Frame_Shift_Del	DEL	C	C	-	rs373108388		TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr1:245851437delC	ENST00000407071.2	+	12	5592	c.5152delC	c.(5152-5154)cccfs	p.P1719fs	KIF26B_ENST00000366518.4_Frame_Shift_Del_p.P1338fs	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	1719	Ser-rich.				establishment of cell polarity (GO:0030010)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|ureteric bud invasion (GO:0072092)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			CGGGACCTCGCCCCCCAGCTC	0.771																																							uc001ibf.1		NA																	0				ovary(3)	3						c.(5152-5154)CCCfs		kinesin family member 26B							4.0	6.0	5.0					1																	245851437		1651	3678	5329	SO:0001589	frameshift_variant	55083				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr1:245851437delC	AK001019	CCDS44342.1	1q44	2008-02-05			ENSG00000162849	ENSG00000162849		"""Kinesins"""	25484	protein-coding gene	gene with protein product		614026					Standard	NM_018012		Approved	FLJ10157	uc001ibf.1	Q2KJY2	OTTHUMG00000040079	ENST00000407071.2:c.5152delC	1.37:g.245851437delC	ENSP00000385545:p.Pro1719fs					KIF26B_uc001ibg.1_Frame_Shift_Del_p.P1336fs|KIF26B_uc001ibh.1_Frame_Shift_Del_p.P960fs	p.P1718fs	NM_018012	NP_060482	Q2KJY2	KI26B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.022)		12	5592	+	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		1718			Ser-rich.		Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	Frame_Shift_Del	DEL	ENST00000407071.2	37	c.5152delC	CCDS44342.1																																																																																				0.771	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381037.1	XM_371354		4	7	NA	NA	NA	NA	NA	4	7	---	---	---	---
OR2T6	254879	broad.mit.edu	37	1	248551620	248551621	+	Frame_Shift_Ins	INS	-	-	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr1:248551620_248551621insT	ENST00000355728.2	+	1	711_712	c.711_712insT	c.(712-714)tttfs	p.F238fs		NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T, member 6	238						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GGAAGAAGGCCTTTGCCACCTG	0.505																																							uc001iei.1		NA																	0				ovary(2)|skin(1)	3						c.(709-714)GCCTTTfs		olfactory receptor, family 2, subfamily T,																																				SO:0001589	frameshift_variant	254879				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248551620_248551621insT	AF399481	CCDS31114.1	1q44	2012-08-09		2004-03-10	ENSG00000198104	ENSG00000198104		"""GPCR / Class A : Olfactory receptors"""	15018	protein-coding gene	gene with protein product				OR2T6P, OR2T9			Standard	NM_001005471		Approved	OST703	uc001iei.1	Q8NHC8	OTTHUMG00000040448	ENST00000355728.2:c.714dupT	1.37:g.248551623_248551623dupT	ENSP00000347965:p.Phe238fs						p.A237fs	NM_001005471	NP_001005471	Q8NHC8	OR2T6_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	711_712	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		237_238			Helical; Name=6; (Potential).		A6NE36	Frame_Shift_Ins	INS	ENST00000355728.2	37	c.711_712insT	CCDS31114.1																																																																																				0.505	OR2T6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097344.1	NM_001005471		19	110	NA	NA	NA	NA	NA	19	110	---	---	---	---
OR56B1	387748	broad.mit.edu	37	11	5757967	5757967	+	Frame_Shift_Del	DEL	T	T	-			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr11:5757967delT	ENST00000317121.3	+	1	287	c.221delT	c.(220-222)atcfs	p.I74fs	TRIM5_ENST00000380027.1_Intron	NM_001005180.2	NP_001005180.1	Q8NGI3	O56B1_HUMAN	olfactory receptor, family 56, subfamily B, member 1	74						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	13		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.086)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.184)		TTCCTTGGCATCCTCTGTATG	0.478																																							uc001mbt.1		NA																	0				central_nervous_system(1)|skin(1)	2						c.(220-222)ATCfs		olfactory receptor, family 56, subfamily B,							198.0	174.0	182.0					11																	5757967		2201	4297	6498	SO:0001589	frameshift_variant	387748				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5757967delT	BK004386	CCDS31395.1	11p15.4	2012-08-09		2004-03-10	ENSG00000181023	ENSG00000181023		"""GPCR / Class A : Olfactory receptors"""	15245	protein-coding gene	gene with protein product				OR56B1P			Standard	NM_001005180		Approved		uc001mbt.2	Q8NGI3	OTTHUMG00000066891	ENST00000317121.3:c.221delT	11.37:g.5757967delT	ENSP00000322939:p.Ile74fs					TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron|OR56B1_uc001mbs.1_Frame_Shift_Del_p.I74fs|OR56B1_uc009yev.1_Frame_Shift_Del_p.I74fs	p.I74fs	NM_001005180	NP_001005180	Q8NGI3	O56B1_HUMAN		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.184)	1	221	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.086)	74			Helical; Name=2; (Potential).		B2RNY6|B3KV42|Q6IF76	Frame_Shift_Del	DEL	ENST00000317121.3	37	c.221delT	CCDS31395.1																																																																																				0.478	OR56B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143354.1	NM_001005180		15	52	NA	NA	NA	NA	NA	15	52	---	---	---	---
CHST1	8534	broad.mit.edu	37	11	45672154	45672154	+	Frame_Shift_Del	DEL	C	C	-			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr11:45672154delC	ENST00000308064.2	-	4	990	c.320delG	c.(319-321)ggcfs	p.G107fs	CHST1_ENST00000533673.1_5'Flank|RP11-495O11.1_ENST00000525563.1_RNA	NM_003654.5	NP_003645.1	O43916	CHST1_HUMAN	carbohydrate (keratan sulfate Gal-6) sulfotransferase 1	107					carbohydrate metabolic process (GO:0005975)|galactose metabolic process (GO:0006012)|glycosaminoglycan metabolic process (GO:0030203)|inflammatory response (GO:0006954)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|polysaccharide metabolic process (GO:0005976)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	keratan sulfotransferase activity (GO:0045130)|sulfotransferase activity (GO:0008146)			breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		CGGGCTCTTGCCCTGGGTGAA	0.627																																							uc001mys.1		NA																	0				skin(4)|pancreas(1)	5						c.(319-321)GGCfs		carbohydrate (keratan sulfate Gal-6)							42.0	51.0	48.0					11																	45672154		2203	4299	6502	SO:0001589	frameshift_variant	8534				galactose metabolic process|inflammatory response|keratan sulfate metabolic process	Golgi membrane|integral to membrane	keratan sulfotransferase activity	g.chr11:45672154delC	U65637	CCDS7913.1	11p11.2	2010-04-29			ENSG00000175264	ENSG00000175264		"""Sulfotransferases, membrane-bound"""	1969	protein-coding gene	gene with protein product		603797				9405439, 9639683	Standard	NM_003654		Approved	C6ST, KSGal6ST	uc001mys.2	O43916		ENST00000308064.2:c.320delG	11.37:g.45672154delC	ENSP00000309270:p.Gly107fs						p.G107fs	NM_003654	NP_003645	O43916	CHST1_HUMAN		GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)	4	991	-			107			Lumenal (Potential).		D3DQP2	Frame_Shift_Del	DEL	ENST00000308064.2	37	c.320delG	CCDS7913.1																																																																																				0.627	CHST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390127.1	NM_003654		20	163	NA	NA	NA	NA	NA	20	163	---	---	---	---
TESPA1	9840	broad.mit.edu	37	12	55357547	55357547	+	Frame_Shift_Del	DEL	C	C	-			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr12:55357547delC	ENST00000449076.1	-	8	766	c.634delG	c.(634-636)gacfs	p.D212fs	TESPA1_ENST00000524622.1_Frame_Shift_Del_p.D74fs|TESPA1_ENST00000532804.1_Frame_Shift_Del_p.D74fs|TESPA1_ENST00000316577.8_Frame_Shift_Del_p.D212fs|TESPA1_ENST00000524959.1_5'UTR|TESPA1_ENST00000531122.1_Frame_Shift_Del_p.D74fs	NM_001136030.2	NP_001129502.1	A2RU30	TESP1_HUMAN	thymocyte expressed, positive selection associated 1	212					COP9 signalosome assembly (GO:0010387)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of T cell receptor signaling pathway (GO:0050862)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)											AGGCAGGGGTCTTCCATTTCA	0.547																																							uc001sgn.3		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(634-636)GACfs		hypothetical protein LOC9840							45.0	50.0	48.0					12																	55357547		1921	4121	6042	SO:0001589	frameshift_variant	9840							g.chr12:55357547delC	AB018291	CCDS44913.1, CCDS58240.1	12q13.2	2012-03-21	2012-03-21	2012-03-21	ENSG00000135426	ENSG00000135426			29109	protein-coding gene	gene with protein product		615664	"""KIAA0748"""	KIAA0748		9872452	Standard	NM_001136030		Approved		uc001sgn.4	A2RU30	OTTHUMG00000165407	ENST00000449076.1:c.634delG	12.37:g.55357547delC	ENSP00000400892:p.Asp212fs					KIAA0748_uc001sgl.3_Frame_Shift_Del_p.D74fs|KIAA0748_uc001sgm.3_5'UTR|KIAA0748_uc010spb.1_Intron|KIAA0748_uc010spc.1_Frame_Shift_Del_p.D74fs|KIAA0748_uc010spd.1_Frame_Shift_Del_p.D212fs|KIAA0748_uc001sgo.3_Intron	p.D212fs	NM_001098815	NP_001092285	A2RU30	K0748_HUMAN			8	744	-			212					B4DPM3|B4E048|B7Z9K7|O94849|Q4G0P2|Q9P0C4	Frame_Shift_Del	DEL	ENST00000449076.1	37	c.634delG	CCDS44913.1																																																																																				0.547	TESPA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000383822.1	NM_001098815		17	16	NA	NA	NA	NA	NA	17	16	---	---	---	---
KL	9365	broad.mit.edu	37	13	33591005	33591005	+	Frame_Shift_Del	DEL	G	G	-			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr13:33591005delG	ENST00000380099.3	+	1	435	c.427delG	c.(427-429)gggfs	p.G143fs	KL_ENST00000426690.2_Intron|KL_ENST00000487852.1_3'UTR	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	143	Glycosyl hydrolase-1 1.				acute inflammatory response (GO:0002526)|aging (GO:0007568)|calcium ion homeostasis (GO:0055074)|carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of bone mineralization (GO:0030501)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-glucosidase activity (GO:0008422)|beta-glucuronidase activity (GO:0004566)|fibroblast growth factor binding (GO:0017134)|signal transducer activity (GO:0004871)|vitamin D binding (GO:0005499)			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		GCGCGAGCTCGGGGTCACTCA	0.716																																							uc001uus.2		NA																	0				large_intestine(1)|ovary(1)|skin(1)	3						c.(427-429)GGGfs		klotho precursor							24.0	23.0	24.0					13																	33591005		2184	4273	6457	SO:0001589	frameshift_variant	9365				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding	g.chr13:33591005delG	AB005142	CCDS9347.1	13q12	2008-02-05			ENSG00000133116	ENSG00000133116			6344	protein-coding gene	gene with protein product		604824				9464267	Standard	NM_004795		Approved		uc001uus.3	Q9UEF7	OTTHUMG00000017408	ENST00000380099.3:c.427delG	13.37:g.33591005delG	ENSP00000369442:p.Gly143fs					KL_uc001uur.1_Intron	p.G143fs	NM_004795	NP_004786	Q9UEF7	KLOT_HUMAN		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)	1	435	+	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)	143			Glycosyl hydrolase-1 1.|Extracellular (Potential).		Q5VZ95|Q96KV5|Q96KW5|Q9UEI9|Q9Y4F0	Frame_Shift_Del	DEL	ENST00000380099.3	37	c.427delG	CCDS9347.1																																																																																				0.716	KL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045987.1			25	32	NA	NA	NA	NA	NA	25	32	---	---	---	---
NOVA1	4857	broad.mit.edu	37	14	26918152	26918152	+	Frame_Shift_Del	DEL	G	G	-			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr14:26918152delG	ENST00000539517.2	-	5	854	c.537delC	c.(535-537)cccfs	p.P179fs	NOVA1_ENST00000267422.7_Frame_Shift_Del_p.P57fs|NOVA1_ENST00000465357.2_Frame_Shift_Del_p.P155fs	NM_002515.2	NP_002506.2	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1	182	KH 2. {ECO:0000255|PROSITE- ProRule:PRU00117}.				locomotory behavior (GO:0007626)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA metabolic process (GO:0051252)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|synaptic transmission (GO:0007268)	intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		CTGTGCTGTTGGGAACTATAA	0.383																																							uc001wpy.2		NA																	0				skin(2)|upper_aerodigestive_tract(1)|breast(1)|liver(1)	5						c.(535-537)CCCfs		neuro-oncological ventral antigen 1 isoform 1							85.0	87.0	86.0					14																	26918152		2203	4300	6503	SO:0001589	frameshift_variant	4857				locomotory behavior|RNA splicing|synaptic transmission	nucleus	RNA binding	g.chr14:26918152delG	U04840	CCDS9635.1, CCDS32060.1, CCDS32061.1	14q12	2006-06-09			ENSG00000139910	ENSG00000139910			7886	protein-coding gene	gene with protein product		602157				8558240	Standard	NM_006489		Approved		uc001wpy.3	P51513	OTTHUMG00000029385	ENST00000539517.2:c.537delC	14.37:g.26918152delG	ENSP00000438875:p.Pro179fs					NOVA1_uc001wpz.2_Frame_Shift_Del_p.P155fs|NOVA1_uc001wqa.2_Frame_Shift_Del_p.P57fs	p.P179fs	NM_002515	NP_002506	P51513	NOVA1_HUMAN		GBM - Glioblastoma multiforme(265;0.0135)	5	855	-			182			KH 2.		A8K0S4|A8K4Q7|D3DS81|D3DS82|Q6B004	Frame_Shift_Del	DEL	ENST00000539517.2	37	c.537delC	CCDS32061.1																																																																																				0.383	NOVA1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000073261.3	NM_006491		15	126	NA	NA	NA	NA	NA	15	126	---	---	---	---
RPL10L	140801	broad.mit.edu	37	14	47120870	47120870	+	Frame_Shift_Del	DEL	G	G	-	rs141953926	byFrequency	TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr14:47120870delG	ENST00000298283.3	-	1	158	c.70delC	c.(70-72)cgafs	p.R24fs		NM_080746.2	NP_542784.1	Q96L21	RL10L_HUMAN	ribosomal protein L10-like	24					spermatogenesis (GO:0007283)|translation (GO:0006412)	cytosolic large ribosomal subunit (GO:0022625)|membrane (GO:0016020)|nucleus (GO:0005634)|polysome (GO:0005844)	structural constituent of ribosome (GO:0003735)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(20)|ovary(1)	27						GGAACCCCTCGGCAGAAACGA	0.542																																							uc001wwg.2		NA																	0				ovary(1)	1						c.(70-72)CGAfs		ribosomal protein L10-like protein							98.0	103.0	101.0					14																	47120870		2203	4300	6503	SO:0001589	frameshift_variant	140801				spermatogenesis|translation	cytosolic large ribosomal subunit|nucleus	structural constituent of ribosome	g.chr14:47120870delG	AB063608	CCDS32071.1	14q21.2	2011-09-15			ENSG00000165496	ENSG00000165496		"""L ribosomal proteins"""	17976	protein-coding gene	gene with protein product						19123937	Standard	NM_080746		Approved		uc001wwg.3	Q96L21	OTTHUMG00000157869	ENST00000298283.3:c.70delC	14.37:g.47120870delG	ENSP00000298283:p.Arg24fs						p.R24fs	NM_080746	NP_542784	Q96L21	RL10L_HUMAN			1	159	-			24					Q8IUD1	Frame_Shift_Del	DEL	ENST00000298283.3	37	c.70delC	CCDS32071.1																																																																																				0.542	RPL10L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349819.1			18	83	NA	NA	NA	NA	NA	18	83	---	---	---	---
TMEM62	80021	broad.mit.edu	37	15	43430790	43430790	+	Frame_Shift_Del	DEL	G	G	-			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr15:43430790delG	ENST00000260403.2	+	4	728	c.449delG	c.(448-450)agtfs	p.S150fs		NM_024956.3	NP_079232.3	Q0P6H9	TMM62_HUMAN	transmembrane protein 62	150						integral component of membrane (GO:0016021)				breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18		all_cancers(109;1.16e-10)|all_epithelial(112;2.01e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;4.23e-07)		AATATTCCAAGTCTGGACAGC	0.308																																							uc001zqr.2		NA																	0				ovary(1)|breast(1)	2						c.(448-450)AGTfs		transmembrane protein 62							78.0	80.0	79.0					15																	43430790		2203	4299	6502	SO:0001589	frameshift_variant	80021					integral to membrane		g.chr15:43430790delG	BC009981	CCDS32210.1	15q15.2	2014-09-11			ENSG00000137842	ENSG00000137842			26269	protein-coding gene	gene with protein product							Standard	NM_024956		Approved	FLJ23375	uc001zqr.3	Q0P6H9	OTTHUMG00000176485	ENST00000260403.2:c.449delG	15.37:g.43430790delG	ENSP00000260403:p.Ser150fs					TMEM62_uc010bda.2_Frame_Shift_Del_p.S20fs	p.S150fs	NM_024956	NP_079232	Q0P6H9	TMM62_HUMAN		GBM - Glioblastoma multiforme(94;4.23e-07)	4	728	+		all_cancers(109;1.16e-10)|all_epithelial(112;2.01e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728)	150					Q6I9Y5|Q9H5J6	Frame_Shift_Del	DEL	ENST00000260403.2	37	c.449delG	CCDS32210.1																																																																																				0.308	TMEM62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432227.1	NM_024956		21	33	NA	NA	NA	NA	NA	21	33	---	---	---	---
SH3GL3	6457	broad.mit.edu	37	15	84237419	84237419	+	Frame_Shift_Del	DEL	C	C	-			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr15:84237419delC	ENST00000427482.2	+	4	632	c.326delC	c.(325-327)accfs	p.T109fs	SH3GL3_ENST00000535412.1_Frame_Shift_Del_p.T109fs|SH3GL3_ENST00000434347.1_Frame_Shift_Del_p.T117fs|SH3GL3_ENST00000324537.5_Frame_Shift_Del_p.T117fs	NM_003027.3	NP_003018.3	Q99963	SH3G3_HUMAN	SH3-domain GRB2-like 3	109	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				central nervous system development (GO:0007417)|endocytosis (GO:0006897)|signal transduction (GO:0007165)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)			central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30						GAAGACTCCACCTTTGGTGAG	0.502																																							uc002bjw.2		NA																	0				pancreas(1)|central_nervous_system(1)|skin(1)	3						c.(325-327)ACCfs		SH3-domain GRB2-like 3							64.0	69.0	67.0					15																	84237419		2203	4300	6503	SO:0001589	frameshift_variant	6457				central nervous system development|endocytosis|signal transduction	early endosome membrane	identical protein binding|lipid binding	g.chr15:84237419delC	AF036271	CCDS10325.2, CCDS73772.1	15q24	2006-11-24			ENSG00000140600	ENSG00000140600			10832	protein-coding gene	gene with protein product		603362				9169142	Standard	NR_026799		Approved	SH3D2C, SH3P13, CNSA3, EEN-B2, HsT19371	uc002bjw.3	Q99963	OTTHUMG00000147361	ENST00000427482.2:c.326delC	15.37:g.84237419delC	ENSP00000391372:p.Thr109fs					SH3GL3_uc010uot.1_Frame_Shift_Del_p.T109fs|SH3GL3_uc002bjx.2_Frame_Shift_Del_p.T40fs|SH3GL3_uc002bju.2_Frame_Shift_Del_p.T117fs|SH3GL3_uc002bjv.2_RNA	p.T109fs	NM_003027	NP_003018	Q99963	SH3G3_HUMAN			4	521	+			109			BAR.		O43553|O43554	Frame_Shift_Del	DEL	ENST00000427482.2	37	c.326delC	CCDS10325.2																																																																																				0.502	SH3GL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347797.1	NM_003027		25	43	NA	NA	NA	NA	NA	25	43	---	---	---	---
AGBL1	123624	broad.mit.edu	37	15	86801251	86801251	+	Frame_Shift_Del	DEL	G	G	-			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr15:86801251delG	ENST00000441037.2	+	8	915	c.820delG	c.(820-822)gggfs	p.G274fs	AGBL1_ENST00000421325.2_Frame_Shift_Del_p.G274fs	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	274	Asp-rich.				C-terminal protein deglutamylation (GO:0035609)|protein side chain deglutamylation (GO:0035610)	cytoplasm (GO:0005737)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						TACTGAAGATGGGAAAGTGGA	0.433																																							uc002blz.1		NA																	0					0						c.(820-822)GGGfs		ATP/GTP binding protein-like 1							179.0	182.0	181.0					15																	86801251		2073	4208	6281	SO:0001589	frameshift_variant	123624				C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	g.chr15:86801251delG	AK056872	CCDS58398.1	15q25.3	2014-06-23			ENSG00000166748	ENSG00000166748			26504	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 4"""	615496				21074048, 24094747	Standard	NM_152336		Approved	FLJ32310, CCP4	uc002blz.1	Q96MI9	OTTHUMG00000149978	ENST00000441037.2:c.820delG	15.37:g.86801251delG	ENSP00000413001:p.Gly274fs						p.G274fs	NM_152336	NP_689549	Q96MI9	CBPC4_HUMAN			8	900	+			274			Asp-rich.		A1A4X5|A6NJH6|C9JHL5	Frame_Shift_Del	DEL	ENST00000441037.2	37	c.820delG	CCDS58398.1																																																																																				0.433	AGBL1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000314929.5	NM_152336		35	134	NA	NA	NA	NA	NA	35	134	---	---	---	---
IL21R	50615	broad.mit.edu	37	16	27455957	27455957	+	Frame_Shift_Del	DEL	G	G	-	rs397514685		TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr16:27455957delG	ENST00000337929.3	+	6	1075	c.602delG	c.(601-603)cggfs	p.R201fs	IL21R_ENST00000564583.1_3'UTR|IL21R_ENST00000395754.4_Frame_Shift_Del_p.R201fs|IL21R_ENST00000395755.1_Frame_Shift_Del_p.R201fs|IL21R_ENST00000564089.1_Frame_Shift_Del_p.R201fs	NM_181078.2	NP_851564.1	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor	201	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.		R -> L (in IL21RID; loss of function mutation; the mutation results in defective trafficking of the protein, with misfolding, impaired processing and abnormal subcellular distribution rather than proper expression at the plasma membrane). {ECO:0000269|PubMed:23440042}.		interleukin-21-mediated signaling pathway (GO:0038114)|natural killer cell activation (GO:0030101)	integral component of membrane (GO:0016021)	interleukin-21 receptor activity (GO:0001532)			breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						CTGCAGGTGCGGGCAGGGCCC	0.597			T	BCL6	NHL																																		uc002doq.1		NA		Dom	yes		16	16p11	50615	T	interleukin 21 receptor			L	BCL6		NHL		0				ovary(2)|lung(1)|breast(1)	4						c.(601-603)CGGfs		interleukin 21 receptor precursor							84.0	81.0	82.0					16																	27455957		2197	4300	6497	SO:0001589	frameshift_variant	50615				natural killer cell activation	integral to membrane	interleukin-21 receptor activity	g.chr16:27455957delG	AF254067	CCDS10630.1	16p11	2014-09-17			ENSG00000103522	ENSG00000103522		"""Interleukins and interleukin receptors"", ""CD molecules"""	6006	protein-coding gene	gene with protein product		605383				11081504	Standard	NM_181078		Approved	CD360	uc002dos.2	Q9HBE5	OTTHUMG00000131675	ENST00000337929.3:c.602delG	16.37:g.27455957delG	ENSP00000338010:p.Arg201fs					IL21R_uc002dor.1_Frame_Shift_Del_p.R201fs|IL21R_uc002dos.1_Frame_Shift_Del_p.R201fs	p.R201fs	NM_181078	NP_851564	Q9HBE5	IL21R_HUMAN			6	835	+			201			Extracellular (Potential).|Fibronectin type-III.		A8K9E8|D3DWF7|Q96HZ1|Q9HB91	Frame_Shift_Del	DEL	ENST00000337929.3	37	c.602delG	CCDS10630.1																																																																																				0.597	IL21R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254578.2	NM_181078		38	89	NA	NA	NA	NA	NA	38	89	---	---	---	---
NKD1	85407	broad.mit.edu	37	16	50667134	50667135	+	Frame_Shift_Ins	INS	-	-	C			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr16:50667134_50667135insC	ENST00000268459.3	+	10	1079_1080	c.855_856insC	c.(856-858)cccfs	p.P286fs		NM_033119.4	NP_149110.1	Q969G9	NKD1_HUMAN	naked cuticle homolog 1 (Drosophila)	286					eye photoreceptor cell differentiation (GO:0001754)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of convergent extension involved in axis elongation (GO:1901233)|positive regulation of non-canonical Wnt signaling pathway via JNK cascade (GO:1901231)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of cell motility involved in somitogenic axis elongation (GO:0090249)|somatic muscle development (GO:0007525)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2)	23		all_cancers(37;0.229)		GBM - Glioblastoma multiforme(240;0.243)		AGTCAGAACTGCCCCCCCGCAC	0.599																																							uc002egg.1		NA																	0					0						c.(853-858)CTGCCCfs		naked cuticle homolog 1																																				SO:0001589	frameshift_variant	85407				Wnt receptor signaling pathway	cytoplasm|plasma membrane	calcium ion binding|protein binding	g.chr16:50667134_50667135insC	AF358135	CCDS10743.1	16q12.1	2013-01-10			ENSG00000140807	ENSG00000140807		"""EF-hand domain containing"""	17045	protein-coding gene	gene with protein product		607851				11356022	Standard	NM_033119		Approved		uc002egg.2	Q969G9	OTTHUMG00000133169	ENST00000268459.3:c.862dupC	16.37:g.50667141_50667141dupC	ENSP00000268459:p.Pro286fs						p.L285fs	NM_033119	NP_149110	Q969G9	NKD1_HUMAN		GBM - Glioblastoma multiforme(240;0.243)	10	1079_1080	+		all_cancers(37;0.229)	285_286					B2RC39|Q8WZ08	Frame_Shift_Ins	INS	ENST00000268459.3	37	c.855_856insC	CCDS10743.1																																																																																				0.599	NKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256873.1			7	68	NA	NA	NA	NA	NA	7	68	---	---	---	---
COG1	9382	broad.mit.edu	37	17	71204463	71204464	+	Frame_Shift_Ins	INS	-	-	G			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr17:71204463_71204464insG	ENST00000299886.4	+	14	2896_2897	c.2816_2817insG	c.(2815-2820)ccggcafs	p.A940fs	FAM104A_ENST00000403627.3_3'UTR|FAM104A_ENST00000583178.1_5'Flank|FAM104A_ENST00000405159.3_3'UTR	NM_018714.2	NP_061184.1	Q8WTW3	COG1_HUMAN	component of oligomeric golgi complex 1	940					Golgi organization (GO:0007030)|intra-Golgi vesicle-mediated transport (GO:0006891)|protein transport (GO:0015031)	Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)		p.P939L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18			LUSC - Lung squamous cell carcinoma(166;0.197)			GTTGTCCCCCCGGCACGCTCCA	0.574																																							uc002jjg.2		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)	ovary(1)	1						c.(2815-2817)CCGfs		component of oligomeric golgi complex 1																																				SO:0001589	frameshift_variant	9382				Golgi organization|intra-Golgi vesicle-mediated transport|protein transport	Golgi membrane|Golgi transport complex	protein binding	g.chr17:71204463_71204464insG		CCDS11692.1	17q25.1	2008-05-14	2002-05-28	2002-05-31		ENSG00000166685		"""Components of oligomeric golgi complex"""	6545	protein-coding gene	gene with protein product		606973	"""low density lipoprotein receptor defect B complementing"""	LDLB		9927668	Standard	NM_018714		Approved	KIAA1381	uc002jjg.3	Q8WTW3		ENST00000299886.4:c.2818dupG	17.37:g.71204465_71204465dupG	ENSP00000299886:p.Ala940fs					COG1_uc002jjh.2_3'UTR|COG1_uc002jjf.1_3'UTR|FAM104A_uc002jjj.3_3'UTR|FAM104A_uc002jji.3_3'UTR	p.P939fs	NM_018714	NP_061184	Q8WTW3	COG1_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.197)		14	2852_2853	+			939					Q9NPV9|Q9P2G6	Frame_Shift_Ins	INS	ENST00000299886.4	37	c.2816_2817insG	CCDS11692.1																																																																																				0.574	COG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441638.1			34	47	NA	NA	NA	NA	NA	34	47	---	---	---	---
GRIN2D	2906	broad.mit.edu	37	19	48919404	48919404	+	Frame_Shift_Del	DEL	C	C	-			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr19:48919404delC	ENST00000263269.3	+	7	1815	c.1727delC	c.(1726-1728)gccfs	p.A576fs		NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2D	576					adult locomotory behavior (GO:0008344)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|regulation of sensory perception of pain (GO:0051930)|signal transduction (GO:0007165)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)			autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	TCCCCCTCGGCCTTCCTCGGT	0.647																																							uc002pjc.3		NA																	0				ovary(3)|breast(3)	6						c.(1726-1728)GCCfs		N-methyl-D-aspartate receptor subunit 2D	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)						59.0	50.0	53.0					19																	48919404		2203	4300	6503	SO:0001589	frameshift_variant	2906					cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding	g.chr19:48919404delC	U77783	CCDS12719.1	19q13.33	2012-08-29			ENSG00000105464	ENSG00000105464		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4588	protein-coding gene	gene with protein product	"""N-methyl-d-aspartate receptor subunit 2D"""	602717		NMDAR2D		9480759, 9418891	Standard	NM_000836		Approved	GluN2D, EB11, NR2D	uc002pjc.4	O15399		ENST00000263269.3:c.1727delC	19.37:g.48919404delC	ENSP00000263269:p.Ala576fs						p.A576fs	NM_000836	NP_000827	O15399	NMDE4_HUMAN		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	7	1815	+		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)	576			Extracellular (Potential).			Frame_Shift_Del	DEL	ENST00000263269.3	37	c.1727delC	CCDS12719.1																																																																																				0.647	GRIN2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466121.1			12	41	NA	NA	NA	NA	NA	12	41	---	---	---	---
GALM	130589	broad.mit.edu	37	2	38908485	38908487	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	GAA	GAA	-	-	GAA	GAA	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr2:38908485_38908487delGAA	ENST00000272252.5	+	3	661_663	c.409_411delGAA	c.(409-411)gaadel	p.E138del	GALM_ENST00000410063.1_Intron	NM_138801.2	NP_620156.1	Q96C23	GALM_HUMAN	galactose mutarotase (aldose 1-epimerase)	138					galactose metabolic process (GO:0006012)|glucose metabolic process (GO:0006006)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	aldose 1-epimerase activity (GO:0004034)|carbohydrate binding (GO:0030246)			NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	14		all_hematologic(82;0.248)				TCCAGATGGTGAAGAAGGCTACC	0.532																																							uc002rqy.2		NA																	0					0						c.(409-411)GAAdel		galactose mutarotase																																				SO:0001651	inframe_deletion	130589				hexose metabolic process	cytoplasm	aldose 1-epimerase activity|carbohydrate binding	g.chr2:38908485_38908487delGAA		CCDS1797.1	2p22.3	2008-02-05			ENSG00000143891	ENSG00000143891			24063	protein-coding gene	gene with protein product	"""aldose 1 epimerase"""	608883				12753898	Standard	NM_138801		Approved		uc002rqy.3	Q96C23	OTTHUMG00000102077	ENST00000272252.5:c.409_411delGAA	2.37:g.38908488_38908490delGAA	ENSP00000272252:p.Glu138del						p.E138del	NM_138801	NP_620156	Q96C23	GALM_HUMAN			3	661_663	+		all_hematologic(82;0.248)	138					Q53RY1|Q8NIA2|V9HWA8	In_Frame_Del	DEL	ENST00000272252.5	37	c.409_411delGAA	CCDS1797.1																																																																																				0.532	GALM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219891.2	NM_138801		8	199	NA	NA	NA	NA	NA	8	199	---	---	---	---
LRRTM4	80059	broad.mit.edu	37	2	77745528	77745528	+	Frame_Shift_Del	DEL	C	C	-			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr2:77745528delC	ENST00000409093.1	-	3	1803	c.1467delG	c.(1465-1467)aagfs	p.K489fs	LRRTM4_ENST00000409088.3_Frame_Shift_Del_p.K489fs|LRRTM4_ENST00000409911.1_Frame_Shift_Del_p.K490fs|LRRTM4_ENST00000409884.1_Frame_Shift_Del_p.K489fs|LRRTM4_ENST00000409282.1_Frame_Shift_Del_p.K490fs			Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	489					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|regulation of presynaptic membrane organization (GO:1901629)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		AGTTTGTAGGCTTGTAGTCCA	0.463																																							uc002snr.2		NA																	0				pancreas(3)|ovary(1)	4						c.(1465-1467)AAGfs		leucine rich repeat transmembrane neuronal 4							91.0	90.0	90.0					2																	77745528		1880	4111	5991	SO:0001589	frameshift_variant	80059					integral to membrane		g.chr2:77745528delC	AK122612	CCDS46346.1, CCDS46347.1, CCDS74530.1	2p12	2008-02-05			ENSG00000176204	ENSG00000176204			19411	protein-coding gene	gene with protein product		610870				12676565	Standard	NM_024993		Approved	FLJ12568	uc002snr.3	Q86VH4	OTTHUMG00000152842	ENST00000409093.1:c.1467delG	2.37:g.77745528delC	ENSP00000386357:p.Lys489fs					LRRTM4_uc002snq.2_Frame_Shift_Del_p.K489fs|LRRTM4_uc002sns.2_Frame_Shift_Del_p.K489fs|LRRTM4_uc002snt.2_Frame_Shift_Del_p.K490fs	p.K489fs	NM_001134745	NP_001128217	Q86VH4	LRRT4_HUMAN		Colorectal(11;0.059)	3	1882	-			489			Cytoplasmic (Potential).		Q4FZ98|Q6UXJ7	Frame_Shift_Del	DEL	ENST00000409093.1	37	c.1467delG	CCDS46346.1																																																																																				0.463	LRRTM4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328225.1	NM_024993		17	26	NA	NA	NA	NA	NA	17	26	---	---	---	---
THSD7B	80731	broad.mit.edu	37	2	138169367	138169367	+	Frame_Shift_Del	DEL	G	G	-			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr2:138169367delG	ENST00000409968.1	+	14	3062	c.2884delG	c.(2884-2886)ggcfs	p.G962fs	THSD7B_ENST00000272643.3_Frame_Shift_Del_p.G962fs|THSD7B_ENST00000413152.2_Frame_Shift_Del_p.G931fs|THSD7B_ENST00000543459.1_Intron			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	962	TSP type-1 12. {ECO:0000255|PROSITE- ProRule:PRU00210}.					integral component of membrane (GO:0016021)				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		ATGTGGAGAAGGCCTGCGCTT	0.512																																							uc002tva.1		NA																	0				ovary(4)|central_nervous_system(2)|pancreas(1)	7						c.(2791-2793)GGCfs		thrombospondin, type I, domain containing 7B							90.0	91.0	91.0					2																	138169367		1972	4154	6126	SO:0001589	frameshift_variant	80731							g.chr2:138169367delG			2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.2884delG	2.37:g.138169367delG	ENSP00000387145:p.Gly962fs					THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.2_Frame_Shift_Del_p.G821fs	p.G931fs	NM_001080427	NP_001073896				BRCA - Breast invasive adenocarcinoma(221;0.19)	13	2791	+									Frame_Shift_Del	DEL	ENST00000409968.1	37	c.2791delG																																																																																					0.512	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331769.2	XM_046570.9		17	51	NA	NA	NA	NA	NA	17	51	---	---	---	---
HJURP	55355	broad.mit.edu	37	2	234746241	234746242	+	Frame_Shift_Ins	INS	-	-	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr2:234746241_234746242insA	ENST00000411486.2	-	9	2293_2294	c.2228_2229insT	c.(2227-2229)ttgfs	p.L743fs	HJURP_ENST00000432087.1_Frame_Shift_Ins_p.L689fs|HJURP_ENST00000441687.1_Frame_Shift_Ins_p.L658fs	NM_018410.3	NP_060880.3	Q8NCD3	HJURP_HUMAN	Holliday junction recognition protein	743					cell cycle (GO:0007049)|CENP-A containing nucleosome assembly (GO:0034080)|chromosome segregation (GO:0007059)|nucleosome assembly (GO:0006334)|regulation of DNA binding (GO:0051101)|regulation of protein complex assembly (GO:0043254)	chromosome, centromeric region (GO:0000775)|condensed chromosome kinetochore (GO:0000777)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|identical protein binding (GO:0042802)			NS(2)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128)		Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829)		TTTTAGTTTCCAATTTTTCTAG	0.332																																							uc002vvg.2		NA																	0				ovary(1)	1						c.(2227-2229)TTGfs		Holliday junction recognition protein																																				SO:0001589	frameshift_variant	55355				cell cycle|CenH3-containing nucleosome assembly at centromere|centromeric core chromatin assembly|chromosome segregation|regulation of DNA binding|regulation of protein complex assembly	condensed chromosome kinetochore|cytoplasm|nucleolus|nucleoplasm	DNA binding|histone binding	g.chr2:234746241_234746242insA		CCDS33406.1, CCDS63166.1, CCDS63167.1	2q37.1	2007-12-06			ENSG00000123485	ENSG00000123485			25444	protein-coding gene	gene with protein product		612667				17823411	Standard	NM_001282962		Approved	DKFZp762E1312, URLC9, hFLEG1, FAKTS	uc002vvg.3	Q8NCD3	OTTHUMG00000059125	ENST00000411486.2:c.2229dupT	2.37:g.234746243_234746243dupA	ENSP00000414109:p.Leu743fs					HJURP_uc010znd.1_Frame_Shift_Ins_p.L682fs|HJURP_uc010zne.1_Frame_Shift_Ins_p.L651fs	p.L743fs	NM_018410	NP_060880	Q8NCD3	HJURP_HUMAN		Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829)	9	2294_2295	-		Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128)	743					A8IRH5|B4DWR0|B4DZV4|Q9BUT2|Q9NSL8	Frame_Shift_Ins	INS	ENST00000411486.2	37	c.2228_2229insT	CCDS33406.1																																																																																				0.332	HJURP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000130996.6	NM_018410		11	64	NA	NA	NA	NA	NA	11	64	---	---	---	---
MN1	4330	broad.mit.edu	37	22	28192956	28192956	+	Frame_Shift_Del	DEL	C	C	-			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr22:28192956delC	ENST00000302326.4	-	1	4530	c.3576delG	c.(3574-3576)gcgfs	p.A1192fs		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	1192					intramembranous ossification (GO:0001957)					NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						CGCCATTCTGCGCCCCTGAGG	0.647			T	ETV6	"""AML, meningioma"""																																		uc003adj.2		NA		Dom	yes		22	22q13	4330	T	meningioma (disrupted in balanced translocation) 1			"""L, O"""	ETV6		AML|meningioma		0				central_nervous_system(3)|lung(3)|large_intestine(1)|breast(1)|skin(1)|ovary(1)	10						c.(3574-3576)GCGfs		meningioma  1							23.0	25.0	24.0					22																	28192956		2116	4236	6352	SO:0001589	frameshift_variant	4330						binding	g.chr22:28192956delC	X82209	CCDS42998.1	22q12.1	2010-09-29			ENSG00000169184	ENSG00000169184			7180	protein-coding gene	gene with protein product	"""probable tumor suppressor protein MN1"""	156100	"""meningioma chromosome region"""	MGCR		7731706, 12569362	Standard	NM_002430		Approved	MGCR1-PEN, MGCR1	uc003adj.3	Q10571	OTTHUMG00000150975	ENST00000302326.4:c.3576delG	22.37:g.28192956delC	ENSP00000304956:p.Ala1192fs						p.A1192fs	NM_002430	NP_002421	Q10571	MN1_HUMAN			1	4531	-			1192					A9Z1V9	Frame_Shift_Del	DEL	ENST00000302326.4	37	c.3576delG	CCDS42998.1																																																																																				0.647	MN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320737.1	NM_002430		10	13	NA	NA	NA	NA	NA	10	13	---	---	---	---
OR5H1	26341	broad.mit.edu	37	3	97852271	97852272	+	Frame_Shift_Ins	INS	-	-	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr3:97852271_97852272insA	ENST00000354565.2	+	1	730_731	c.730_731insA	c.(730-732)catfs	p.H244fs	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005338.1	NP_001005338.1	A6NKK0	OR5H1_HUMAN	olfactory receptor, family 5, subfamily H, member 1	244						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						CTGTGGAGCCCATCTCTTCTCT	0.411																																							uc011bgt.1		NA																	0				ovary(1)|breast(1)	2						c.(730-732)CATfs		olfactory receptor, family 5, subfamily H,																																				SO:0001589	frameshift_variant	26341				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:97852271_97852272insA	X64988	CCDS33797.1	3q12.1	2012-08-09			ENSG00000231192	ENSG00000231192		"""GPCR / Class A : Olfactory receptors"""	8346	protein-coding gene	gene with protein product						1370859	Standard	NM_001005338		Approved	HTPCRX14, HSHTPCRX14	uc011bgt.2	A6NKK0	OTTHUMG00000160070	ENST00000354565.2:c.731dupA	3.37:g.97852272_97852272dupA	ENSP00000346575:p.His244fs						p.H244fs	NM_001005338	NP_001005338	A6NKK0	OR5H1_HUMAN			1	730_731	+			244			Helical; Name=6; (Potential).			Frame_Shift_Ins	INS	ENST00000354565.2	37	c.730_731insA	CCDS33797.1																																																																																				0.411	OR5H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359100.2	NM_001005338		26	42	NA	NA	NA	NA	NA	26	42	---	---	---	---
ABI3BP	25890	broad.mit.edu	37	3	100645145	100645145	+	Splice_Site	DEL	C	C	-			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr3:100645145delC	ENST00000284322.5	-	2	390		c.e2+1		ABI3BP_ENST00000495063.1_Splice_Site|ABI3BP_ENST00000471714.1_Splice_Site|ABI3BP_ENST00000532144.1_Splice_Site	NM_015429.3	NP_056244.2	Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein						extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular space (GO:0005615)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)			central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						AAACACCTTACCAACTATAGC	0.453																																							uc003dun.2		NA																	0				ovary(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)	4						c.e2+1		ABI gene family, member 3 (NESH) binding protein							87.0	82.0	83.0					3																	100645145		1863	4098	5961	SO:0001630	splice_region_variant	25890					extracellular space		g.chr3:100645145delC	AB056106	CCDS46880.1	3q12.2	2013-02-11	2008-09-12		ENSG00000154175	ENSG00000154175		"""Fibronectin type III domain containing"""	17265	protein-coding gene	gene with protein product	"""target of Nesh-SH3"""	606279				11501947	Standard	NM_015429		Approved	NESHBP, DKFZP586L2024, TARSH	uc003dun.3	Q7Z7G0	OTTHUMG00000159094	ENST00000284322.5:c.280+1G>-	3.37:g.100645145delC						ABI3BP_uc003duo.2_Splice_Site_p.D87_splice|ABI3BP_uc003dup.3_Splice_Site_p.D87_splice	p.D94_splice	NM_015429	NP_056244	Q7Z7G0	TARSH_HUMAN			2	365	-								B3KSL4|Q6ZW20|Q6ZW22|Q9C082|Q9UFI6	Splice_Site	DEL	ENST00000284322.5	37	c.280_splice	CCDS46880.1																																																																																				0.453	ABI3BP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353260.1		Intron	20	37	NA	NA	NA	NA	NA	20	37	---	---	---	---
MEGF10	84466	broad.mit.edu	37	5	126732373	126732373	+	Frame_Shift_Del	DEL	G	G	-			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr5:126732373delG	ENST00000274473.6	+	7	829	c.562delG	c.(562-564)ggtfs	p.G188fs	MEGF10_ENST00000418761.2_Frame_Shift_Del_p.G188fs|MEGF10_ENST00000508365.1_Frame_Shift_Del_p.G188fs|MEGF10_ENST00000503335.2_Frame_Shift_Del_p.G188fs	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	188	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				homotypic cell-cell adhesion (GO:0034109)|muscle cell development (GO:0055001)|recognition of apoptotic cell (GO:0043654)|regulation of muscle cell differentiation (GO:0051147)|regulation of skeletal muscle tissue development (GO:0048641)|skeletal muscle satellite cell activation (GO:0014719)|skeletal muscle satellite cell differentiation (GO:0014816)|skeletal muscle satellite cell proliferation (GO:0014841)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		GGGCACCTATGGTAACGACTG	0.632																																							uc003kuh.3		NA																	0				ovary(4)	4						c.(562-564)GGTfs		multiple EGF-like-domains 10 precursor							51.0	53.0	53.0					5																	126732373		2203	4300	6503	SO:0001589	frameshift_variant	84466				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup		g.chr5:126732373delG	AK021631	CCDS4142.1	5q33	2008-02-05			ENSG00000145794	ENSG00000145794			29634	protein-coding gene	gene with protein product		612453				11347906	Standard	NM_032446		Approved	KIAA1780	uc003kui.4	Q96KG7	OTTHUMG00000128984	ENST00000274473.6:c.562delG	5.37:g.126732373delG	ENSP00000274473:p.Gly188fs					MEGF10_uc010jdc.1_Frame_Shift_Del_p.G188fs|MEGF10_uc010jdd.1_Frame_Shift_Del_p.G188fs|MEGF10_uc003kui.3_Frame_Shift_Del_p.G188fs	p.G188fs	NM_032446	NP_115822	Q96KG7	MEG10_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)	7	924	+		Prostate(80;0.165)	188			Extracellular (Potential).|EGF-like 3.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.		Q68DE5|Q8WUL3	Frame_Shift_Del	DEL	ENST00000274473.6	37	c.562delG	CCDS4142.1																																																																																				0.632	MEGF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250973.2	NM_032446		28	35	NA	NA	NA	NA	NA	28	35	---	---	---	---
SEMA3E	9723	broad.mit.edu	37	7	83029344	83029345	+	Splice_Site	INS	-	-	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr7:83029344_83029345insT	ENST00000307792.3	-	11	1832_1833	c.1365_1366insA	c.(1363-1368)acagat>acaAgat	p.D456fs	SEMA3E_ENST00000427262.1_Splice_Site_p.D396fs	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	456	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell-matrix adhesion (GO:0001953)|patterning of blood vessels (GO:0001569)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of cell shape (GO:0008360)|semaphorin-plexin signaling pathway (GO:0071526)|sprouting angiogenesis (GO:0002040)|synapse organization (GO:0050808)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				GTCTCTTTACCTGTCCCAATAA	0.337																																							uc003uhy.1		NA																	0				ovary(3)	3						c.(1363-1368)ACAGATfs		semaphorin 3E precursor																																				SO:0001630	splice_region_variant	9723				axon guidance	extracellular space|membrane	receptor activity	g.chr7:83029344_83029345insT	AB002329	CCDS34674.1, CCDS55121.1	7q21.11	2013-01-11			ENSG00000170381	ENSG00000170381		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10727	protein-coding gene	gene with protein product	"""M-sema H"""	608166		SEMAH		9205841, 9515811	Standard	NM_012431		Approved	M-SemaK, KIAA0331, coll-5	uc003uhy.2	O15041	OTTHUMG00000154693	ENST00000307792.3:c.1366+1->A	7.37:g.83029345_83029345dupT							p.T455fs	NM_012431	NP_036563	O15041	SEM3E_HUMAN			11	1831_1832	-		Medulloblastoma(109;0.109)	455_456			Sema.		B4E1P1|Q75M94|Q75M97	Frame_Shift_Ins	INS	ENST00000307792.3	37	c.1365_1366insA	CCDS34674.1																																																																																				0.337	SEMA3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336606.1	NM_012431	Frame_Shift_Ins	48	119	NA	NA	NA	NA	NA	48	119	---	---	---	---
RBBP7	5931	broad.mit.edu	37	X	16870709	16870709	+	Frame_Shift_Del	DEL	G	G	-			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chrX:16870709delG	ENST00000380087.2	-	8	1288	c.928delC	c.(928-930)catfs	p.H310fs	RBBP7_ENST00000380084.4_Frame_Shift_Del_p.H354fs|RBBP7_ENST00000404022.1_Frame_Shift_Del_p.H301fs			Q16576	RBBP7_HUMAN	retinoblastoma binding protein 7	310					cell proliferation (GO:0008283)|cellular heat acclimation (GO:0070370)|CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of cell growth (GO:0030308)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleosome assembly (GO:0006334)|transcription, DNA-templated (GO:0006351)	ESC/E(Z) complex (GO:0035098)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	RNA binding (GO:0003723)			biliary_tract(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	25	Hepatocellular(33;0.0997)					TCGAAGGTATGGAGTTTTAAT	0.328																																							uc004cxt.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(928-930)CATfs		retinoblastoma binding protein 7							62.0	57.0	59.0					X																	16870709		2203	4300	6503	SO:0001589	frameshift_variant	5931				cell proliferation|cellular heat acclimation|CenH3-containing nucleosome assembly at centromere|DNA replication|multicellular organismal development|negative regulation of cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex|NuRD complex	protein binding	g.chrX:16870709delG	U35143	CCDS14179.1, CCDS56598.1	Xp22.22	2013-01-10	2001-11-28		ENSG00000102054	ENSG00000102054		"""WD repeat domain containing"""	9890	protein-coding gene	gene with protein product	"""G1/S transition control protein-binding protein RbAp46"", ""retinoblastoma-binding protein 7"", ""retinoblastoma-binding protein RbAp46"", ""histone acetyltransferase type B subunit 2"", ""retinoblastoma-binding protein p46"""	300825	"""retinoblastoma-binding protein 7"""			7503932	Standard	NM_002893		Approved	RbAp46	uc004cxs.2	Q16576	OTTHUMG00000021198	ENST00000380087.2:c.928delC	X.37:g.16870709delG	ENSP00000369427:p.His310fs					RBBP7_uc004cxs.1_Frame_Shift_Del_p.H354fs|RBBP7_uc004cxu.2_Frame_Shift_Del_p.H301fs|RBBP7_uc010nez.2_3'UTR	p.H310fs	NM_002893	NP_002884	Q16576	RBBP7_HUMAN			8	1286	-	Hepatocellular(33;0.0997)		310			WD 5.		Q5JP00	Frame_Shift_Del	DEL	ENST00000380087.2	37	c.928delC	CCDS14179.1																																																																																				0.328	RBBP7-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055920.2	NM_002893		21	111	NA	NA	NA	NA	NA	21	111	---	---	---	---
SUPT20HL1	100130302	broad.mit.edu	37	X	24381860	24381860	+	IGR	DEL	G	G	-			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chrX:24381860delG								AC004552.1 (14837 upstream) : PDK3 (101477 downstream)																							CTCCCAGTCTGGCCAGCCCAG	0.552																																							uc011mjx.1		NA																	0				kidney(1)	1						c.(982-984)TGGfs		hypothetical protein LOC100130302							123.0	108.0	112.0					X																	24381860		1568	3582	5150	SO:0001628	intergenic_variant	100130302							g.chrX:24381860delG																													X.37:g.24381860delG							p.W328fs	NM_001136234	NP_001129706					1	983	+									Frame_Shift_Del	DEL		37	c.983delG																																																																																				0	0.552									47	141	NA	NA	NA	NA	NA	47	141	---	---	---	---
